Variant report

Variant	rs4442241
Chromosome Location	chr9:139694276-139694277
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	POLR2A	chr9:139693189-139695805	Hela-S3	cervix:	n/a	n/a
2	HDAC2	chr9:139694238-139694988	HepG2	liver:	n/a	n/a
3	MBD4	chr9:139694273-139694650	HepG2	liver:	n/a	n/a
4	CBX3	chr9:139694275-139694974	K562	blood:	n/a	n/a
5	POLR2A	chr9:139692561-139696180	HepG2	liver:	n/a	n/a
6	E2F6	chr9:139694261-139694709	K562	blood:	n/a	n/a
7	MAZ	chr9:139694270-139695787	K562	blood:	n/a	chr9:139694640-139694650
8	MAX	chr9:139694081-139694992	H1-hESC	embryonic stem cell:	n/a	chr9:139694640-139694650
9	REST	chr9:139694237-139695225	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr9:139693184-139694661	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:139694225-139694621	A549	lung:	n/a	n/a
12	E2F6	chr9:139693992-139694831	H1-hESC	embryonic stem cell:	n/a	n/a
13	GATA3	chr9:139694218-139695953	MCF-7	breast:	n/a	chr9:139695641-139695651
14	YY1	chr9:139694149-139694746	K562	blood:	n/a	n/a
15	POLR2A	chr9:139692995-139694671	ECC-1	luminal epithelium:	n/a	n/a
16	NFATC1	chr9:139694270-139694739	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:139692967-139697247	MCF10A-Er-Src	breast:	n/a	n/a
18	YY1	chr9:139694217-139694589	GM12892	blood:	n/a	n/a
19	POLR2A	chr9:139693049-139696183	MCF10A-Er-Src	breast:	n/a	n/a
20	MAZ	chr9:139694254-139695248	IMR90	lung:	n/a	chr9:139694640-139694650
21	POLR2A	chr9:139694257-139694641	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr9:139693841-139695961	A549	lung:	n/a	chr9:139694640-139694650
23	POLR2A	chr9:139694270-139694627	GM12892	blood:	n/a	n/a
24	POLR2A	chr9:139694098-139698588	K562	blood:	n/a	n/a
25	YY1	chr9:139694239-139694605	GM12878	blood:	n/a	n/a
26	MAX	chr9:139694274-139694853	K562	blood:	n/a	chr9:139694640-139694650
27	POLR2A	chr9:139694238-139694620	A549	lung:	n/a	n/a
28	POLR2A	chr9:139694243-139694614	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr9:139694003-139694895	MCF-7	breast:	n/a	chr9:139694640-139694650
30	MXI1	chr9:139694230-139695052	HepG2	liver:	n/a	n/a
31	POLR2A	chr9:139694254-139694686	K562	blood:	n/a	n/a
32	YY1	chr9:139694139-139694706	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr9:139694208-139695986	Hela-S3	cervix:	n/a	n/a
34	MAX	chr9:139694163-139695267	K562	blood:	n/a	chr9:139694640-139694650
35	POLR2A	chr9:139694202-139694649	PANC-1	pancreas:	n/a	n/a
36	MAX	chr9:139694116-139694859	H1-hESC	embryonic stem cell:	n/a	chr9:139694640-139694650
37	CEBPD	chr9:139693239-139695101	HepG2	liver:	n/a	n/a
38	POLR2A	chr9:139693250-139694533	PBDE	blood:	n/a	n/a
39	YY1	chr9:139694273-139694551	GM12891	blood:	n/a	n/a
40	TCF12	chr9:139693090-139694472	A549	lung:	n/a	chr9:139693339-139693346 chr9:139693495-139693503
41	EGR1	chr9:139694275-139694577	K562	blood:	n/a	n/a
42	POLR2A	chr9:139682141-139704512	HepG2	liver:	n/a	n/a
43	CTCF	chr9:139694220-139694370	GM12875	blood:	n/a	n/a
44	POLR2A	chr9:139693443-139694677	HL-60	blood:	n/a	n/a
45	CREB1	chr9:139694103-139694638	A549	lung:	n/a	n/a
46	E2F6	chr9:139694266-139694944	K562	blood:	n/a	n/a
47	HMGN3	chr9:139694262-139695093	K562	blood:	n/a	n/a
48	SP1	chr9:139694253-139695076	H1-hESC	embryonic stem cell:	n/a	chr9:139694677-139694688 chr9:139694693-139694705 chr9:139694735-139694744 chr9:139694625-139694637 chr9:139694640-139694650 chr9:139694678-139694688 chr9:139694695-139694704 chr9:139694679-139694688 chr9:139694644-139694656 chr9:139694677-139694689 chr9:139694734-139694744 chr9:139694693-139694705 chr9:139694735-139694744 chr9:139694622-139694636 chr9:139694694-139694703 chr9:139694641-139694650 chr9:139694730-139694744 chr9:139694625-139694636 chr9:139694677-139694689 chr9:139694678-139694687 chr9:139694640-139694649 chr9:139694693-139694704 chr9:139694679-139694688 chr9:139694674-139694688 chr9:139694639-139694651 chr9:139694734-139694744 chr9:139694733-139694745 chr9:139694636-139694650 chr9:139694733-139694745 chr9:139694690-139694704 chr9:139694639-139694650 chr9:139695012-139695021 chr9:139694627-139694636 chr9:139694734-139694743 chr9:139694678-139694688 chr9:139694639-139694651
49	POLR2A	chr9:139692955-139694661	HepG2	liver:	n/a	n/a
50	MAX	chr9:139694005-139694842	A549	lung:	n/a	chr9:139694640-139694650

No.	Distal block	Cell Line	Cell type
1	chr9:139257747..139259328-chr9:139692821..139695681,2	MCF-7	breast:
2	chr9:139691906..139694692-chr9:139746602..139748175,2	K562	blood:
3	chr9:139693022..139696090-chr9:139793195..139796394,4	MCF-7	breast:
4	chr9:139693981..139696739-chr9:139937484..139940403,2	K562	blood:
5	chr9:139619516..139624583-chr9:139694122..139697808,6	K562	blood:
6	chr9:139620788..139624093-chr9:139694172..139695988,3	MCF-7	breast:
7	chr9:139685740..139686255-chr9:139694252..139694980,2	MCF-7	breast:
8	chr9:139694015..139696316-chr9:139714280..139715826,2	MCF-7	breast:
9	chr9:139693062..139698077-chr9:139715739..139719346,4	K562	blood:
10	chr9:139692582..139697157-chr9:139741560..139746001,12	MCF-7	breast:
11	chr9:139692835..139695036-chr9:139735254..139738901,4	MCF-7	breast:
12	chr9:139619516..139623685-chr9:139693810..139697808,6	K562	blood:
13	chr9:139692613..139695427-chr9:139886563..139888609,3	MCF-7	breast:
14	chr9:139693946..139696412-chr9:139837161..139840313,3	MCF-7	breast:
15	chr9:139691318..139694320-chr9:139739366..139743319,3	K562	blood:
16	chr9:139693327..139695120-chr9:139920387..139922452,2	K562	blood:
17	chr9:139692738..139694720-chr9:139709911..139711843,2	K562	blood:
18	chr9:139691633..139694818-chr9:139759227..139762534,3	K562	blood:
19	chr9:139682195..139706361-chr9:139728316..139752024,110	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272679	TF binding region
CCDC183	TF binding region
ENSG00000107281	Chromatin interaction
ENSG00000244187	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000159069	Chromatin interaction
ENSG00000176919	Chromatin interaction
ENSG00000148362	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000196642	Chromatin interaction
ENSG00000232434	Chromatin interaction
ENSG00000107223	Chromatin interaction
ENSG00000272896	Chromatin interaction
ENSG00000213212	Chromatin interaction
ENSG00000177943	Chromatin interaction
ENSG00000213221	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000127191	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10123424	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11145887	0.82[EUR][1000 genomes]
rs3739950	0.83[EUR][1000 genomes]
rs4546744	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62581361	0.82[EUR][1000 genomes]
rs62581390	0.83[EUR][1000 genomes]
rs62581419	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6560648	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7048453	0.82[EUR][1000 genomes]
rs7846926	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7859194	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs945386	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849811	chr9:138939662-139755001	Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS 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	323 gene(s)	inside rSNPs	diseases
2	esv1822553	chr9:138967205-139755539	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription 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	323 gene(s)	inside rSNPs	diseases
3	esv1851120	chr9:139101947-139711758	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	275 gene(s)	inside rSNPs	diseases
4	nsv430118	chr9:139101947-139795504	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer 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	299 gene(s)	inside rSNPs	diseases
5	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
6	esv2758204	chr9:139252829-139826485	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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 miRNA target site	270 gene(s)	inside rSNPs	diseases
7	esv2759720	chr9:139252829-139826485	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	270 gene(s)	inside rSNPs	diseases
8	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
9	esv1799492	chr9:139341612-139711758	Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
10	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
11	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
12	esv1829857	chr9:139385438-139760041	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	esv1819204	chr9:139388365-139758238	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	212 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	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
19	nsv894422	chr9:139487092-139776400	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	nsv894450	chr9:139598108-139776400	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	130 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
28	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
29	nsv1051605	chr9:139620105-139728697	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
30	nsv540350	chr9:139620105-139728697	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription 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	108 gene(s)	inside rSNPs	diseases
31	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
32	nsv894457	chr9:139650448-139776400	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
33	nsv540351	chr9:139664948-139703627	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
34	nsv894458	chr9:139683224-139776400	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
35	nsv894459	chr9:139683224-139787453	Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
36	nsv894460	chr9:139683224-139810595	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
37	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
38	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
39	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
40	esv29973	chr9:139690144-139754110	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
41	nsv894464	chr9:139690144-139776400	Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
42	nsv894465	chr9:139690144-139795504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	76 gene(s)	inside rSNPs	diseases
43	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
44	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
45	nsv894466	chr9:139693992-139784683	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak 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 miRNA	74 gene(s)	inside rSNPs	diseases
46	nsv894467	chr9:139693992-139810595	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
47	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
48	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
49	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4442241	PHPT1	Cis_1M	lymphoblastoid	RTeQTL
rs4442241	LCN8	Cis_1M	lymphoblastoid	RTeQTL
rs4442241	LCN8	cis	Whole Blood	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139687200-139694400	Weak transcription	Brain Substantia Nigra	brain
2	chr9:139690400-139694400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr9:139693000-139695600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
4	chr9:139693200-139694400	Enhancers	Esophagus	oesophagus
5	chr9:139693200-139694400	Enhancers	Lung	lung
6	chr9:139693200-139694600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
7	chr9:139693200-139694600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
8	chr9:139693200-139694800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr9:139693200-139695800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:139693400-139694400	Bivalent Enhancer	Fetal Lung	lung
11	chr9:139693400-139694400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr9:139693400-139695000	Enhancers	Fetal Heart	heart
13	chr9:139693400-139695600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr9:139693400-139695800	Enhancers	Spleen	Spleen
15	chr9:139693600-139694400	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:139693600-139694400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:139693600-139694400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
18	chr9:139693600-139694600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:139693600-139694800	Bivalent/Poised TSS	Fetal Brain Female	brain
20	chr9:139693600-139695000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr9:139693800-139694400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr9:139693800-139694400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr9:139693800-139694400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr9:139693800-139694400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr9:139693800-139694400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr9:139693800-139694400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:139693800-139694400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr9:139693800-139694400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr9:139693800-139694400	Flanking Active TSS	Thymus	Thymus
30	chr9:139693800-139694600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:139693800-139694600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:139693800-139694600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr9:139693800-139694600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr9:139693800-139694600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr9:139693800-139694600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
36	chr9:139693800-139694600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:139693800-139694600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:139693800-139694600	Flanking Active TSS	Liver	Liver
39	chr9:139693800-139694600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr9:139693800-139694600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr9:139693800-139694600	Bivalent/Poised TSS	Small Intestine	intestine
42	chr9:139693800-139695000	Active TSS	Primary T cells from cord blood	blood
43	chr9:139693800-139695400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr9:139693800-139695800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr9:139693800-139696200	Flanking Active TSS	Hela-S3	cervix
46	chr9:139694000-139694400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:139694000-139694400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:139694000-139694400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:139694000-139694400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:139694000-139694400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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