Variant report

Variant	rs2271870
Chromosome Location	chr9:139839297-139839298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr9:139838947-139839390	K562	blood:	n/a	n/a
2	NR2F2	chr9:139839076-139839737	K562	blood:	n/a	n/a
3	SRF	chr9:139838776-139839754	HCT-116	colon:	n/a	chr9:139839402-139839412
4	CTCF	chr9:139839220-139839370	GM12864	blood:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
5	SRF	chr9:139839060-139839397	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr9:139839003-139839404	HepG2	liver:	n/a	n/a
7	PML	chr9:139838853-139839657	K562	blood:	n/a	n/a
8	POLR2A	chr9:139837590-139839374	MCF-7	breast:	n/a	n/a
9	GTF2F1	chr9:139838919-139839546	K562	blood:	n/a	n/a
10	POLR2A	chr9:139838155-139839346	GM12878	blood:	n/a	n/a
11	CTCF	chr9:139839220-139839370	Caco-2	colon:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
12	CTCF	chr9:139838495-139839816	A549	lung:	n/a	chr9:139839320-139839333 chr9:139838896-139838909 chr9:139839317-139839335 chr9:139838774-139838787 chr9:139838771-139838789 chr9:139838774-139838787
13	YY1	chr9:139838383-139839879	HepG2	liver:	n/a	chr9:139839642-139839653
14	YY1	chr9:139838743-139839431	GM12891	blood:	n/a	n/a
15	CTCF	chr9:139839173-139839473	Gliobla	brain:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
16	RCOR1	chr9:139838688-139839928	K562	blood:	n/a	n/a
17	MAX	chr9:139838929-139839539	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:139839240-139839390	HA-sp	spinal cord:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
19	FOXM1	chr9:139838953-139839471	GM12878	blood:	n/a	n/a
20	SP1	chr9:139838950-139839568	H1-hESC	embryonic stem cell:	n/a	chr9:139839337-139839346 chr9:139839335-139839347 chr9:139839336-139839346 chr9:139839336-139839345 chr9:139839336-139839346 chr9:139839337-139839346 chr9:139839335-139839347
21	CTCF	chr9:139839200-139839350	GM12866	blood:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
22	CTCF	chr9:139839123-139839427	A549	lung:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
23	MAZ	chr9:139838275-139839575	Hela-S3	cervix:	n/a	chr9:139838757-139838767
24	POLR2A	chr9:139838386-139839487	K562	blood:	n/a	n/a
25	POLR2A	chr9:139837660-139839658	PANC-1	pancreas:	n/a	n/a
26	CTCF	chr9:139839240-139839390	HRE	kidney:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
27	EGR1	chr9:139838862-139839548	ECC-1	luminal epithelium:	n/a	chr9:139839230-139839239 chr9:139839275-139839284 chr9:139839065-139839079 chr9:139839121-139839135 chr9:139839331-139839344 chr9:139839047-139839061 chr9:139838995-139839005 chr9:139839097-139839111
28	TAF1	chr9:139838269-139839392	HepG2	liver:	n/a	n/a
29	POLR2A	chr9:139838787-139839451	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr9:139839220-139839370	NHEK	skin:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
31	CTCF	chr9:139839260-139839410	HPF	lung:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
32	POLR2A	chr9:139833343-139840280	K562	blood:	n/a	n/a
33	TFAP2C	chr9:139838535-139839710	Hela-S3	cervix:	n/a	chr9:139839166-139839181
34	NFE2	chr9:139839192-139839372	GM12878	blood:	n/a	n/a
35	CREB1	chr9:139838513-139839736	K562	blood:	n/a	n/a
36	CTCF	chr9:139839165-139839478	Pancreas_OC	pancreas:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
37	POLR2A	chr9:139838292-139839571	K562	blood:	n/a	n/a
38	CTCF	chr9:139839078-139839658	MCF-7	breast:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
39	TRIM28	chr9:139839060-139839687	K562	blood:	n/a	n/a
40	ATF3	chr9:139839047-139839690	A549	lung:	n/a	chr9:139839433-139839446
41	ARID3A	chr9:139839043-139839584	HepG2	liver:	n/a	n/a
42	CTCF	chr9:139839260-139839410	HRPEpiC	eye:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
43	YY1	chr9:139839012-139839422	H1-hESC	embryonic stem cell:	n/a	n/a
44	PAX5	chr9:139838992-139839447	GM12878	blood:	n/a	n/a
45	CTCF	chr9:139838616-139839558	K562	blood:	n/a	chr9:139839320-139839333 chr9:139838896-139838909 chr9:139839317-139839335 chr9:139838774-139838787 chr9:139838771-139838789 chr9:139838774-139838787
46	RAD21	chr9:139838958-139839440	K562	blood:	n/a	chr9:139839320-139839332 chr9:139839319-139839333
47	CTCF	chr9:139839220-139839370	BJ	skin:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
48	E2F6	chr9:139839079-139839647	A549	lung:	n/a	chr9:139839275-139839284 chr9:139839230-139839239
49	CTCF	chr9:139839240-139839390	GM12875	blood:	n/a	chr9:139839320-139839333 chr9:139839317-139839335
50	CTCF	chr9:139839160-139839310	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:139837721..139840687-chr9:139929807..139932623,3	K562	blood:
2	chr9:139741905..139745759-chr9:139836394..139841074,11	K562	blood:
3	chr9:139837707..139840249-chr9:139937905..139941207,3	MCF-7	breast:
4	chr9:139684892..139687578-chr9:139837356..139841601,5	MCF-7	breast:
5	chr9:139838060..139839792-chr9:139933494..139936101,2	K562	blood:
6	chr9:139759084..139762257-chr9:139836822..139839684,5	MCF-7	breast:
7	chr9:139837844..139839533-chr9:139872878..139875055,2	MCF-7	breast:
8	chr9:139836491..139840843-chr9:139920877..139924515,5	K562	blood:
9	chr9:139837344..139842228-chr9:139920048..139923537,8	MCF-7	breast:
10	chr9:139778379..139782493-chr9:139835538..139841683,7	K562	blood:
11	chr9:139775744..139785357-chr9:139834831..139843301,18	MCF-7	breast:
12	chr9:139791042..139798100-chr9:139837150..139840881,10	MCF-7	breast:
13	chr9:139837779..139839326-chr9:139906684..139908515,2	MCF-7	breast:
14	chr9:139836429..139841703-chr9:139845168..139848601,5	K562	blood:
15	chr9:139836105..139846821-chr9:139919094..139924819,24	MCF-7	breast:
16	chr9:139837395..139841047-chr9:139870338..139873414,3	MCF-7	breast:
17	chr9:139837701..139840548-chr9:140135499..140137086,2	K562	blood:
18	chr9:139790926..139800327-chr9:139835284..139840384,15	MCF-7	breast:
19	chr9:139836972..139840310-chr9:139885072..139887174,4	K562	blood:
20	chr9:139738593..139754524-chr9:139832961..139844322,29	MCF-7	breast:
21	chr9:139741905..139746962-chr9:139835280..139841074,9	K562	blood:
22	chr9:139834936..139840862-chr9:139842314..139844588,8	K562	blood:
23	chr9:139836188..139848313-chr9:139883522..139894647,40	MCF-7	breast:
24	chr9:139751242..139753857-chr9:139838389..139841093,3	MCF-7	breast:
25	chr9:139835281..139842012-chr9:139842308..139848601,13	K562	blood:
26	chr9:139700428..139703391-chr9:139838721..139840265,2	K562	blood:
27	chr9:139775623..139777641-chr9:139838183..139840803,2	MCF-7	breast:
28	chr9:139684319..139687155-chr9:139837681..139840267,3	K562	blood:
29	chr9:139693946..139696412-chr9:139837161..139840313,3	MCF-7	breast:
30	chr16:763650..766646-chr9:139838814..139840385,2	MCF-7	breast:
31	chr9:139838439..139841309-chr9:139947694..139949623,3	MCF-7	breast:
32	chr9:139750899..139754581-chr9:139837670..139840574,3	K562	blood:
33	chr9:139621075..139623507-chr9:139837293..139839645,2	K562	blood:
34	chr9:139837772..139841099-chr9:140061460..140064939,4	MCF-7	breast:
35	chr9:139777919..139780613-chr9:139837562..139839430,2	MCF-7	breast:
36	chr9:139758990..139764783-chr9:139834742..139840758,9	MCF-7	breast:
37	chr9:139760347..139763007-chr9:139836965..139839769,2	K562	blood:
38	chr9:139837737..139839600-chr9:139871681..139874373,2	K562	blood:
39	chr9:139656219..139658957-chr9:139838927..139840752,2	K562	blood:
40	chr9:139837304..139841351-chr9:139889068..139893319,4	K562	blood:
41	chr9:139795540..139797953-chr9:139837525..139839445,2	K562	blood:
42	chr9:139734155..139746957-chr9:139834710..139842618,30	MCF-7	breast:
43	chr9:139839168..139840906-chr9:139862731..139865227,2	MCF-7	breast:
44	chr9:139621075..139623829-chr9:139838145..139840956,4	K562	blood:
45	chr9:139837657..139841229-chr9:139875890..139877651,3	MCF-7	breast:
46	chr15:65588167..65588690-chr9:139838691..139839379,2	Hela-S3	cervix:
47	chr9:139835527..139839374-chr9:139921629..139923901,3	K562	blood:
48	chr9:139835507..139852162-chr9:139884980..139895056,54	MCF-7	breast:
49	chr9:139748081..139750685-chr9:139837672..139839306,2	MCF-7	breast:
50	chr9:139836453..139844148-chr9:139884945..139890988,15	K562	blood:

Variant related genes	Relation type
C8G	TF binding region
LCN12	TF binding region
FBXW5	TF binding region
ENSG00000054179	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000176884	Chromatin interaction
ENSG00000103260	Chromatin interaction
ENSG00000184709	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000107317	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000228544	Chromatin interaction
ENSG00000272679	Chromatin interaction
ENSG00000232434	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000266507	Chromatin interaction
ENSG00000244187	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000177943	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000214402	Chromatin interaction
ENSG00000127191	Chromatin interaction
ENSG00000198454	Chromatin interaction
ENSG00000272896	Chromatin interaction
ENSG00000184925	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000273066	Chromatin interaction
ENSG00000263697	Chromatin interaction
ENSG00000107223	Chromatin interaction
ENSG00000213213	Chromatin interaction
ENSG00000148362	Chromatin interaction
ENSG00000235117	Chromatin interaction
ENSG00000107331	Chromatin interaction
ENSG00000177984	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10118333	0.81[ASN][1000 genomes]
rs10870148	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4880172	0.88[ASN][1000 genomes]
rs4880175	0.84[EUR][1000 genomes]
rs7859131	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs884218	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs925936	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540342	chr9:139218422-139973312	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	317 gene(s)	inside rSNPs	diseases
2	nsv469918	chr9:139254317-140068342	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
3	nsv540346	chr9:139360142-140164011	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	471 gene(s)	inside rSNPs	diseases
4	nsv1039149	chr9:139376829-139991102	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	303 gene(s)	inside rSNPs	diseases
5	esv1803979	chr9:139395473-139979276	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
6	esv1831778	chr9:139395473-139979276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
7	esv1821575	chr9:139395473-140068342	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
8	esv2422220	chr9:139478587-140244550	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	454 gene(s)	inside rSNPs	diseases
9	nsv894409	chr9:139483954-139860264	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	209 gene(s)	inside rSNPs	diseases
10	nsv894432	chr9:139522101-139869914	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	205 gene(s)	inside rSNPs	diseases
11	nsv894440	chr9:139544437-139841512	Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
12	nsv894441	chr9:139544437-139860264	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
13	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
14	nsv894451	chr9:139598108-139995065	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
15	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
16	nsv894454	chr9:139607966-139904037	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	172 gene(s)	inside rSNPs	diseases
17	nsv894455	chr9:139607966-140411547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	417 gene(s)	inside rSNPs	diseases
18	nsv818738	chr9:139634495-139904037	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	126 gene(s)	inside rSNPs	diseases
19	nsv894461	chr9:139683224-139860264	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
20	nsv894462	chr9:139683224-140274164	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	353 gene(s)	inside rSNPs	diseases
21	nsv894463	chr9:139683224-140411547	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
22	esv1846327	chr9:139690144-139841512	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	86 gene(s)	inside rSNPs	diseases
23	nsv524322	chr9:139690144-140376668	Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	371 gene(s)	inside rSNPs	diseases
24	nsv894468	chr9:139693992-139860264	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
25	nsv894469	chr9:139693992-140118448	Bivalent Enhancer Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
26	nsv894470	chr9:139693992-140339091	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
27	nsv894474	chr9:139694521-140432318	Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
28	nsv540352	chr9:139695108-140351178	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
29	nsv894482	chr9:139709976-139860264	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	78 gene(s)	inside rSNPs	diseases
30	nsv894483	chr9:139709976-139963091	Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	119 gene(s)	inside rSNPs	diseases
31	nsv894484	chr9:139709976-140382705	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	360 gene(s)	inside rSNPs	diseases
32	nsv894485	chr9:139709976-140408904	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
33	nsv894486	chr9:139725120-140382705	Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	359 gene(s)	inside rSNPs	diseases
34	nsv894487	chr9:139725120-140449582	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
35	nsv1047479	chr9:139754184-139869440	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
36	nsv540353	chr9:139754184-139869440	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
37	esv1803771	chr9:139776400-140274255	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
38	nsv894498	chr9:139810595-140339091	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	324 gene(s)	inside rSNPs	diseases
39	nsv894499	chr9:139810595-140734161	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
40	esv1823828	chr9:139820363-140023694	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
41	esv1822764	chr9:139822266-140202692	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	313 gene(s)	inside rSNPs	diseases
42	nsv894500	chr9:139823670-139930945	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
43	nsv894501	chr9:139823670-140400275	Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
44	nsv894502	chr9:139823670-140487108	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
45	nsv894503	chr9:139830940-139987350	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
46	nsv894504	chr9:139831696-139844151	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
47	nsv894505	chr9:139831696-139848717	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
48	nsv615987	chr9:139834195-139842262	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
49	esv1834381	chr9:139834195-140031290	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	125 gene(s)	inside rSNPs	diseases
50	esv1823555	chr9:139834714-140362439	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2271870	PHPT1	Cis_1M	lymphoblastoid	RTeQTL
rs2271870	RP11-229P13.19	cis	Whole Blood	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139837400-139839400	Active TSS	HepG2	liver
2	chr9:139837600-139839400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:139837600-139839400	Active TSS	A549	lung
4	chr9:139837800-139839400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr9:139837800-139839400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:139837800-139839400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr9:139837800-139839400	Active TSS	GM12878-XiMat	blood
8	chr9:139838000-139839400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr9:139838000-139839400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr9:139838000-139839400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr9:139838000-139839400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr9:139838000-139839400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:139838000-139839400	Active TSS	Primary T cells from cord blood	blood
14	chr9:139838000-139839400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:139838000-139839400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:139838000-139839400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr9:139838000-139839400	Active TSS	Colon Smooth Muscle	Colon
18	chr9:139838000-139839400	Active TSS	Esophagus	oesophagus
19	chr9:139838000-139839400	Active TSS	Psoas Muscle	Psoas
20	chr9:139838000-139839400	Active TSS	NHDF-Ad	bronchial
21	chr9:139838000-139839800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:139838200-139839400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr9:139838200-139839400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:139838200-139839400	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr9:139838200-139839400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr9:139838200-139839400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr9:139838200-139839400	Active TSS	Brain Angular Gyrus	brain
28	chr9:139838200-139839400	Active TSS	Brain Anterior Caudate	brain
29	chr9:139838200-139839400	Active TSS	Brain Cingulate Gyrus	brain
30	chr9:139838200-139839400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr9:139838200-139839400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:139838200-139839400	Active TSS	Brain Substantia Nigra	brain
33	chr9:139838200-139839400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr9:139838200-139839400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr9:139838200-139839400	Active TSS	Dnd41	blood
36	chr9:139838200-139839400	Active TSS	Hela-S3	cervix
37	chr9:139838200-139839400	Active TSS	HMEC	breast
38	chr9:139838200-139839400	Active TSS	K562	blood
39	chr9:139838200-139839400	Active TSS	NHEK	skin
40	chr9:139838200-139839400	Active TSS	Osteobl	bone
41	chr9:139838200-139839600	Active TSS	Fetal Lung	lung
42	chr9:139838200-139839600	Active TSS	Ovary	ovary
43	chr9:139838400-139839400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:139838400-139839400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:139838400-139839400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr9:139838400-139839400	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr9:139838400-139839400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:139838400-139839400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr9:139838400-139839400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr9:139838400-139839400	Active TSS	Cortex derived primary cultured neurospheres	brain

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