Variant report

Variant	rs6003587
Chromosome Location	chr22:23589740-23589741
allele	A/G
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	FOXA2	chr22:23589300-23589761	HepG2	liver:	n/a	chr22:23589496-23589508
2	EP300	chr22:23589267-23589750	HepG2	liver:	n/a	chr22:23589525-23589535
3	TBP	chr22:23589656-23589823	K562	blood:	n/a	n/a
4	ZNF263	chr22:23589184-23589798	HEK293-T-REx	kidney:	n/a	chr22:23589384-23589393
5	FOXA1	chr22:23589182-23589834	HepG2	liver:	n/a	chr22:23589496-23589508 chr22:23589524-23589539
6	FOXA1	chr22:23589169-23589796	HepG2	liver:	n/a	chr22:23589496-23589508 chr22:23589524-23589539
7	CHD2	chr22:23589633-23589951	K562	blood:	n/a	n/a
8	FOXA2	chr22:23589042-23590365	HepG2	liver:	n/a	chr22:23589496-23589508
9	ZBTB7A	chr22:23589452-23589809	HepG2	liver:	n/a	n/a
10	STAT5A	chr22:23589643-23590354	K562	blood:	n/a	chr22:23589775-23589784 chr22:23589772-23589786 chr22:23589774-23589783
11	SP1	chr22:23589243-23589785	HepG2	liver:	n/a	chr22:23589766-23589775 chr22:23589611-23589618
12	ZNF263	chr22:23589025-23589926	K562	blood:	n/a	chr22:23589384-23589393
13	POLR2A	chr22:23588951-23589958	K562	blood:	n/a	n/a
14	NFIC	chr22:23589235-23589762	HepG2	liver:	n/a	n/a
15	FOXA2	chr22:23589388-23589795	A549	lung:	n/a	chr22:23589496-23589508
16	MYBL2	chr22:23589217-23589742	HepG2	liver:	n/a	n/a
17	POLR2A	chr22:23586176-23591229	K562	blood:	n/a	n/a
18	FOXA1	chr22:23589078-23589835	HepG2	liver:	n/a	chr22:23589496-23589508 chr22:23589524-23589539

No.	Distal block	Cell Line	Cell type
1	chr22:23522061..23524722-chr22:23589297..23592350,3	MCF-7	breast:
2	chr22:23522033..23525900-chr22:23589634..23593895,5	MCF-7	breast:
3	chr22:23583747..23587100-chr22:23587236..23592263,6	MCF-7	breast:
4	chr22:23583033..23586852-chr22:23588137..23592281,4	MCF-7	breast:
5	chr22:23519543..23521281-chr22:23587399..23590262,2	MCF-7	breast:

Variant related genes	Relation type
BCR	TF binding region
ENSG00000186716	Chromatin interaction
ENSG00000236794	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11704376	0.87[EUR][1000 genomes]
rs11704598	0.86[EUR][1000 genomes]
rs11704766	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11912632	0.86[EUR][1000 genomes]
rs11912657	0.86[EUR][1000 genomes]
rs11912682	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11913665	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13054277	0.86[EUR][1000 genomes]
rs13054840	0.87[EUR][1000 genomes]
rs17611266	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35837404	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5759665	0.84[AFR][1000 genomes]
rs5759666	0.84[AFR][1000 genomes]
rs5996507	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5996511	1.00[ASN][1000 genomes]
rs6003584	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003586	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003591	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6003594	1.00[ASN][1000 genomes]
rs6003595	1.00[ASN][1000 genomes]
rs62219795	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7289192	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7291469	0.86[EUR][1000 genomes]
rs743584	0.88[EUR][1000 genomes]
rs8139664	0.86[EUR][1000 genomes]
rs8141608	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8141706	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs928780	0.83[AFR][1000 genomes]
rs9608091	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608094	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9608095	0.86[EUR][1000 genomes]
rs9608097	0.86[EUR][1000 genomes]
rs9608101	0.84[EUR][1000 genomes]
rs9612266	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9612267	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9612268	0.88[EUR][1000 genomes]
rs9612270	0.87[EUR][1000 genomes]
rs9612272	0.87[EUR][1000 genomes]
rs9612273	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9612275	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9612276	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9612277	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9612281	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
26	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
27	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23570000-23589800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr22:23573800-23593400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:23583400-23590800	Weak transcription	Adipose Nuclei	Adipose
4	chr22:23583800-23596000	Weak transcription	Colonic Mucosa	Colon
5	chr22:23585200-23590000	Weak transcription	Fetal Kidney	kidney
6	chr22:23585200-23595000	Weak transcription	Dnd41	blood
7	chr22:23585200-23595800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:23585400-23590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:23585400-23593800	Weak transcription	Fetal Heart	heart
10	chr22:23585600-23590000	Enhancers	Fetal Thymus	thymus
11	chr22:23585600-23590000	Weak transcription	Small Intestine	intestine
12	chr22:23585600-23590800	Weak transcription	Right Atrium	heart
13	chr22:23585600-23595800	Weak transcription	Fetal Brain Female	brain
14	chr22:23585800-23589800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:23585800-23591800	Weak transcription	Placenta	Placenta
16	chr22:23585800-23592800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr22:23585800-23592800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr22:23585800-23593400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr22:23585800-23594200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr22:23585800-23594400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr22:23585800-23594400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr22:23585800-23594600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr22:23585800-23596000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:23585800-23605600	Weak transcription	Fetal Lung	lung
25	chr22:23586200-23590000	Enhancers	Pancreas	Pancrea
26	chr22:23586400-23589800	Strong transcription	K562	blood
27	chr22:23586400-23590000	Weak transcription	GM12878-XiMat	blood
28	chr22:23586400-23590200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:23586600-23589800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:23586800-23590000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr22:23586800-23590200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:23587000-23590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr22:23587000-23593600	Weak transcription	A549	lung
34	chr22:23587200-23590000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr22:23587200-23591800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:23587400-23590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:23587400-23590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:23587400-23592800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr22:23587400-23597400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:23587600-23590000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:23587600-23590000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr22:23587600-23590000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr22:23587600-23590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:23587600-23590400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:23587600-23590400	Weak transcription	HUVEC	blood vessel
46	chr22:23587600-23590600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr22:23587600-23590600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:23587600-23593000	Weak transcription	Esophagus	oesophagus
49	chr22:23587600-23593800	Weak transcription	NHLF	lung
50	chr22:23587600-23596000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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