Variant report

Variant	rs1817526
Chromosome Location	chr12:31886971-31886972
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	POLR2A	chr12:31886928-31886980	K562	blood:	n/a	n/a
2	EP300	chr12:31886789-31887037	K562	blood:	n/a	n/a
3	RFX5	chr12:31886734-31886979	Hela-S3	cervix:	n/a	n/a
4	RUNX3	chr12:31886619-31887010	GM12878	blood:	n/a	n/a
5	EBF1	chr12:31886683-31887016	GM12878	blood:	n/a	n/a
6	ELF1	chr12:31886593-31887091	K562	blood:	n/a	chr12:31886838-31886851
7	JUND	chr12:31886729-31886973	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr12:31885705-31887060	MCF10A-Er-Src	breast:	n/a	chr12:31885991-31885999 chr12:31885991-31885999 chr12:31886005-31886016 chr12:31885984-31885995 chr12:31885923-31885932 chr12:31885989-31886000 chr12:31885992-31885999
9	NFYB	chr12:31886541-31886990	Hela-S3	cervix:	n/a	chr12:31886778-31886793
10	MYC	chr12:31886601-31887301	K562	blood:	n/a	n/a
11	TEAD4	chr12:31886617-31887172	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr12:31885489-31887228	A549	lung:	n/a	n/a
13	BACH1	chr12:31886753-31886971	K562	blood:	n/a	n/a
14	IRF1	chr12:31886717-31887477	K562	blood:	n/a	n/a
15	CEBPB	chr12:31886584-31887202	HCT-116	colon:	n/a	n/a
16	TBP	chr12:31886702-31886985	Hela-S3	cervix:	n/a	n/a
17	GATA2	chr12:31886699-31887048	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:31886591-31886996	K562	blood:	n/a	n/a
19	PBX3	chr12:31886635-31887217	SK-N-SH	brain:	n/a	n/a
20	SP1	chr12:31885681-31887145	A549	lung:	n/a	n/a
21	JUND	chr12:31886620-31887135	SK-N-SH	brain:	n/a	n/a
22	EP300	chr12:31885577-31887220	ECC-1	luminal epithelium:	n/a	chr12:31885990-31885999
23	STAT3	chr12:31886722-31886978	Hela-S3	cervix:	n/a	n/a
24	GATA3	chr12:31886596-31887289	SK-N-SH	brain:	n/a	n/a
25	NFYB	chr12:31886539-31887247	GM12878	blood:	n/a	chr12:31886778-31886793
26	FOS	chr12:31885776-31886984	MCF10A-Er-Src	breast:	n/a	chr12:31885991-31885999 chr12:31885991-31885999 chr12:31886005-31886016 chr12:31885984-31885995 chr12:31885923-31885932 chr12:31885989-31886000 chr12:31885992-31885999
27	PBX3	chr12:31886646-31886974	A549	lung:	n/a	n/a
28	EP300	chr12:31886583-31887400	K562	blood:	n/a	n/a
29	GATA3	chr12:31886594-31887251	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr12:31886668-31887155	Hela-S3	cervix:	n/a	n/a
31	FOSL2	chr12:31886619-31887004	A549	lung:	n/a	n/a
32	POLR2A	chr12:31880828-31887458	K562	blood:	n/a	n/a
33	HCFC1	chr12:31886781-31887077	K562	blood:	n/a	n/a
34	NR3C1	chr12:31886583-31887049	A549	lung:	n/a	n/a
35	GATA2	chr12:31886596-31887105	K562	blood:	n/a	n/a
36	FOS	chr12:31885726-31887003	HUVEC	blood vessel:	n/a	chr12:31885991-31885999 chr12:31885991-31885999 chr12:31886005-31886016 chr12:31885984-31885995 chr12:31885923-31885932 chr12:31885989-31886000 chr12:31885992-31885999
37	POLR2A	chr12:31886594-31887147	Hela-S3	cervix:	n/a	n/a
38	NFYA	chr12:31886539-31886989	Hela-S3	cervix:	n/a	chr12:31886772-31886790
39	NFIC	chr12:31886610-31887190	SK-N-SH	brain:	n/a	n/a
40	RUNX3	chr12:31886597-31887089	GM12878	blood:	n/a	n/a
41	MAX	chr12:31886693-31886992	Hela-S3	cervix:	n/a	n/a
42	JUN	chr12:31886542-31887603	K562	blood:	n/a	n/a
43	CEBPB	chr12:31886623-31887072	A549	lung:	n/a	n/a
44	PBX3	chr12:31886614-31887065	SK-N-SH	brain:	n/a	n/a
45	TCF12	chr12:31885725-31887144	ECC-1	luminal epithelium:	n/a	n/a
46	RAD21	chr12:31886787-31887086	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr12:31886652-31887019	SK-N-SH	brain:	n/a	n/a
48	JUND	chr12:31886612-31887188	HCT-116	colon:	n/a	n/a
49	CEBPB	chr12:31886667-31887062	K562	blood:	n/a	n/a
50	EP300	chr12:31886607-31887153	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31878269..31883010-chr12:31884108..31887220,4	MCF-7	breast:
2	chr12:31885987..31887663-chr12:31893396..31895350,2	K562	blood:
3	chr12:31885898..31889640-chr12:32111582..32115997,5	K562	blood:
4	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:
5	chr12:31885885..31887666-chr12:31889660..31891228,2	MCF-7	breast:
6	chr12:31885818..31888336-chr12:32049032..32051077,2	K562	blood:
7	chr12:31886667..31888400-chr12:31898421..31901414,2	K562	blood:
8	chr12:31885928..31888449-chr12:32111582..32113888,2	K562	blood:

Variant related genes	Relation type
AMN1	TF binding region
ENSG00000174718	Chromatin interaction
ENSG00000151743	Chromatin interaction
ENSG00000244436	Chromatin interaction
ENSG00000256843	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10771865	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483729	0.89[ASN][1000 genomes]
rs6488004	0.88[JPT][hapmap]
rs7968792	0.89[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription 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 target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
14	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31882800-31887000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:31883000-31887400	Enhancers	Placenta	Placenta
3	chr12:31883000-31896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:31883200-31887000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:31883200-31887400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:31883200-31887600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:31883200-31887600	Enhancers	Fetal Thymus	thymus
8	chr12:31883200-31889400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:31884000-31887400	Enhancers	Left Ventricle	heart
10	chr12:31884200-31888800	Enhancers	NHDF-Ad	bronchial
11	chr12:31884400-31887200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:31884400-31887400	Enhancers	Psoas Muscle	Psoas
13	chr12:31884600-31887200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:31884600-31887200	Enhancers	HSMM	muscle
15	chr12:31884600-31887400	Enhancers	Stomach Mucosa	stomach
16	chr12:31884600-31888000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:31884600-31889800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:31884800-31887200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:31884800-31887200	Enhancers	HUVEC	blood vessel
20	chr12:31884800-31887400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:31884800-31888600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:31885000-31887000	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:31885000-31887400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:31885000-31887400	Enhancers	HMEC	breast
25	chr12:31885000-31887600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:31885200-31887000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:31885200-31887400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:31885200-31887400	Enhancers	Osteobl	bone
29	chr12:31885200-31888600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:31885200-31889600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:31885400-31893800	Weak transcription	Primary B cells from cord blood	blood
32	chr12:31885800-31887400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:31885800-31888400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:31885800-31900200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:31886000-31887000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:31886000-31887000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:31886000-31887400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:31886000-31887400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:31886000-31887400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:31886000-31887400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:31886000-31887400	Enhancers	Lung	lung
42	chr12:31886000-31887600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:31886000-31890800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:31886200-31887200	Weak transcription	Adipose Nuclei	Adipose
45	chr12:31886200-31887400	Enhancers	NH-A	brain
46	chr12:31886200-31887600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr12:31886200-31889400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:31886200-31889400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:31886200-31889600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:31886200-31889600	Weak transcription	Placenta Amnion	Placenta Amnion

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