Variant report

Variant	rs2271862
Chromosome Location	chr9:139906359-139906360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139906314-139906364	HAEpiC	amniotic membrane:	n/a
2	chr9:139906314-139906364	Hela-S3	cervix:	n/a
3	chr9:139906314-139906364	SK-N-SH	brain:	n/a
4	chr9:139906314-139906364	U87	brain:	n/a
5	chr9:139906314-139906364	SK-N-SH_RA	brain:	n/a
6	chr9:139906314-139906364	NB4	blood:	n/a
7	chr9:139906314-139906364	HL-60	blood:	n/a
8	chr9:139906314-139906364	BE2_C	brain:	n/a
9	chr9:139906314-139906364	HRCEpiC	kidney:	n/a
10	chr9:139906314-139906364	SK-N-MC	brain:	n/a
11	chr9:139906314-139906364	NT2-D1	testis:	n/a
12	chr9:139906314-139906364	NHBE	bronchial:	n/a
13	chr9:139906314-139906364	SKMC	muscle:	n/a
14	chr9:139906314-139906364	AoSMC	blood vessel:	n/a
15	chr9:139906314-139906364	GM06990	blood:	n/a
16	chr9:139906314-139906364	AG04450	lung:	fetal
17	chr9:139906314-139906364	HIPEpiC	eye:	n/a
18	chr9:139906314-139906364	HRE	kidney:	n/a
19	chr9:139906314-139906364	PrEC	prostate:	n/a
20	chr9:139906314-139906364	HCM	heart:	n/a
21	chr9:139906314-139906364	HCT-116	colon:	n/a
22	chr9:139906314-139906364	AG09309	skin:	n/a
23	chr9:139906314-139906364	T-47D	breast:	n/a
24	chr9:139906314-139906364	AG09319	gingival:	n/a
25	chr9:139906314-139906364	A549	lung:	n/a
26	chr9:139906314-139906364	HCF	heart:	n/a
27	chr9:139906314-139906364	CMK	blood:	n/a
28	chr9:139906314-139906364	NHDF-neo	bronchial:	n/a
29	chr9:139906314-139906364	HNPCEpiC	eye:	n/a
30	chr9:139906314-139906364	MCF-7	breast:	n/a
31	chr9:139906314-139906364	PANC-1	pancreas:	n/a
32	chr9:139906314-139906364	HUVEC	blood vessel:	n/a
33	chr9:139906314-139906364	HEEpiC	esophagus:	n/a
34	chr9:139906314-139906364	HCPEpiC	choroid plexus:	n/a
35	chr9:139906314-139906364	ovcar-3	ovarian:	n/a
36	chr9:139906314-139906364	HPAEpiC	pulmonary alveolar:	n/a
37	chr9:139906314-139906364	Caco-2	colon:	n/a
38	chr9:139906314-139906364	H1-hESC	embryonic stem cell:	embryo
39	chr9:139906314-139906364	Jurkat	blood:	n/a
40	chr9:139906314-139906364	AG04449	skin:	fetal
41	chr9:139906314-139906364	BJ	skin:	n/a
42	chr9:139906314-139906364	GM12891	blood:	n/a
43	chr9:139906314-139906364	ECC-1	luminal epithelium:	n/a
44	chr9:139906314-139906364	LNCaP	prostate:	n/a
45	chr9:139906314-139906364	HRPEpiC	eye:	n/a
46	chr9:139906314-139906364	HEK293	kidney:	embryo
47	chr9:139906314-139906364	IMR90	lung:	fetal
48	chr9:139906314-139906364	K562	blood:	n/a
49	chr9:139906314-139906364	PFSK-1	brain:	n/a
50	chr9:139906314-139906364	ProgFib	skin:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:139900984..139909604-chr9:139912261..139920506,13	MCF-7	breast:
2	chr9:139886372..139889256-chr9:139905188..139908496,3	K562	blood:
3	chr9:139905615..139907751-chr9:139919690..139922282,2	K562	blood:
4	chr9:139886598..139890745-chr9:139905210..139907728,3	K562	blood:
5	chr9:139906068..139907647-chr9:139920874..139923043,2	MCF-7	breast:
6	chr9:139901105..139903453-chr9:139904431..139906639,3	MCF-7	breast:
7	chr9:139728920..139732126-chr9:139903923..139907401,3	K562	blood:
8	chr9:139836818..139839181-chr9:139906279..139908196,2	K562	blood:
9	chr9:139885878..139888824-chr9:139906118..139907790,3	MCF-7	breast:
10	chr9:139889634..139894449-chr9:139905288..139908460,7	MCF-7	breast:
11	chr9:139906289..139908125-chr9:139939263..139942072,2	MCF-7	breast:
12	chr9:139890924..139892723-chr9:139904458..139907431,2	K562	blood:
13	chr9:139905546..139907065-chr9:139909444..139912332,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCA2	CpG island
ENSG00000107331	Chromatin interaction
ENSG00000159069	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000148362	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000169583	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10114463	0.87[ASN][1000 genomes]
rs10114487	0.84[MEX][hapmap]
rs10781529	0.86[EUR][1000 genomes]
rs10781530	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs10870157	0.89[EUR][1000 genomes]
rs10870158	1.00[ASW][hapmap];0.91[CEU][hapmap];0.86[CHD][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.89[EUR][1000 genomes]
rs10870159	0.85[EUR][1000 genomes]
rs10870162	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11999781	0.82[ASN][1000 genomes]
rs12340777	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17578859	0.80[MEX][hapmap]
rs2049040	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2049041	0.82[CEU][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs2049043	0.94[ASW][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.81[EUR][1000 genomes]
rs2271863	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3814499	0.94[ASW][hapmap];0.82[CEU][hapmap];0.96[MEX][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes]
rs3814500	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs3814501	0.82[CEU][hapmap];0.85[YRI][hapmap]
rs3829902	0.84[ASN][1000 genomes]
rs41306732	0.88[ASN][1000 genomes]
rs4355883	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4880082	0.94[ASW][hapmap];0.82[CEU][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.81[EUR][1000 genomes]
rs4880180	0.82[CEU][hapmap];0.96[MEX][hapmap];0.81[EUR][1000 genomes]
rs4880182	0.81[EUR][1000 genomes]
rs4880188	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62585806	0.87[ASN][1000 genomes]
rs6560653	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6926	0.82[CEU][hapmap];0.96[MEX][hapmap]
rs7029565	0.94[ASW][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.80[EUR][1000 genomes]
rs7048567	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72763205	0.86[ASN][1000 genomes]
rs7388671	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7470867	1.00[ASW][hapmap];0.87[CEU][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7849705	0.82[CEU][hapmap];0.82[YRI][hapmap]
rs7854838	0.85[EUR][1000 genomes]
rs7860430	0.89[EUR][1000 genomes]
rs867251	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:72 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	nsv894506	chr9:139841512-140143801	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
37	nsv894507	chr9:139860264-139995065	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
38	nsv894514	chr9:139860631-139943112	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	79 gene(s)	inside rSNPs	diseases
39	nsv894515	chr9:139860631-139963091	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
40	nsv894517	chr9:139860631-139977351	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
41	nsv894516	chr9:139860631-139979276	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
42	nsv894518	chr9:139860631-139995065	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
43	nsv466690	chr9:139860631-140042320	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	117 gene(s)	inside rSNPs	diseases
44	nsv615989	chr9:139860631-140042320	Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription 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	117 gene(s)	inside rSNPs	diseases
45	nsv615990	chr9:139860631-140068342	Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	118 gene(s)	inside rSNPs	diseases
46	nsv894519	chr9:139860631-140123584	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
47	nsv894520	chr9:139860631-140135118	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	185 gene(s)	inside rSNPs	diseases
48	nsv894521	chr9:139860631-140228092	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
49	nsv894522	chr9:139860631-140411547	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
50	nsv894523	chr9:139860631-140462099	Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2271862	MAMDC4	cis	cerebellum	SCAN
rs2271862	MAN1B1	cis	cerebellum	SCAN
rs2271862	RP11-229P13.19	cis	Whole Blood	GTEx
rs2271862	LCNL1	cis	parietal	SCAN
rs2271862	PHPT1	cis	cerebellum	SCAN
rs2271862	LCN8	cis	cerebellum	SCAN
rs2271862	C9orf142	cis	parietal	SCAN
rs2271862	C9orf142	cis	cerebellum	SCAN
rs2271862	SNORD36C	cis	parietal	SCAN
rs2271862	COL5A1	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139891600-139911800	Weak transcription	HSMMtube	muscle
2	chr9:139892000-139921400	Weak transcription	Right Atrium	heart
3	chr9:139892800-139906800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:139895000-139906400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:139895000-139909800	Weak transcription	Primary T cells from cord blood	blood
6	chr9:139895000-139921400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:139895200-139909600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:139895400-139910600	Weak transcription	Thymus	Thymus
9	chr9:139895400-139921000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr9:139895400-139921600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:139896800-139909000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr9:139899400-139918400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:139900600-139907000	Weak transcription	Psoas Muscle	Psoas
14	chr9:139900800-139910000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:139901000-139918400	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:139901000-139919000	Strong transcription	Fetal Brain Female	brain
17	chr9:139901000-139922400	Weak transcription	Small Intestine	intestine
18	chr9:139901200-139916200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:139901200-139919800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr9:139901200-139921600	Weak transcription	Osteobl	bone
21	chr9:139901400-139915600	Strong transcription	Fetal Intestine Small	intestine
22	chr9:139901400-139920800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr9:139901600-139907200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:139901800-139914400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:139901800-139915800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:139901800-139917800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:139901800-139918800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:139902000-139908600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:139902000-139916800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:139902000-139917200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:139902200-139906400	Strong transcription	Gastric	stomach
32	chr9:139902200-139907200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:139902200-139907200	Strong transcription	Aorta	Aorta
34	chr9:139902200-139909200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:139902200-139911600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:139902200-139911600	Strong transcription	Spleen	Spleen
37	chr9:139902200-139913200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:139902200-139913600	Strong transcription	Adipose Nuclei	Adipose
39	chr9:139902200-139915000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr9:139902400-139908400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr9:139902400-139910000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr9:139902400-139913400	Strong transcription	Colonic Mucosa	Colon
43	chr9:139902400-139917200	Strong transcription	Right Ventricle	heart
44	chr9:139902400-139917600	Strong transcription	Brain Germinal Matrix	brain
45	chr9:139902400-139921000	Weak transcription	Dnd41	blood
46	chr9:139902600-139913800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:139902600-139916200	Strong transcription	Brain Angular Gyrus	brain
48	chr9:139902600-139916400	Strong transcription	Lung	lung
49	chr9:139902600-139918400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr9:139902800-139908200	Strong transcription	Fetal Stomach	stomach

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