Variant report

Variant	rs7964492
Chromosome Location	chr12:57823585-57823586
allele	A/C
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	NR2F2	chr12:57823499-57824378	K562	blood:	n/a	n/a
2	MYC	chr12:57823421-57825630	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
3	TBL1XR1	chr12:57823569-57824159	K562	blood:	n/a	n/a
4	MXI1	chr12:57823539-57824114	K562	blood:	n/a	chr12:57823711-57823720
5	POLR2A	chr12:57823478-57825510	HL-60	blood:	n/a	n/a
6	MXI1	chr12:57823573-57823903	H1-hESC	embryonic stem cell:	n/a	chr12:57823711-57823720
7	MYC	chr12:57823495-57825210	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
8	POLR2A	chr12:57823517-57825363	K562	blood:	n/a	n/a
9	MAX	chr12:57823367-57825494	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
10	MAX	chr12:57823553-57825205	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
11	MXI1	chr12:57823020-57825888	SK-N-SH	brain:	n/a	chr12:57823711-57823720
12	MXI1	chr12:57823564-57825385	IMR90	lung:	n/a	chr12:57823711-57823720
13	GATA1	chr12:57823553-57824041	PBDE	blood:	n/a	n/a
14	TEAD4	chr12:57823521-57824284	K562	blood:	n/a	n/a
15	POLR2A	chr12:57823523-57825405	K562	blood:	n/a	n/a
16	HCFC1	chr12:57823353-57825885	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:57823106-57824642	GM12892	blood:	n/a	n/a
18	MAX	chr12:57823562-57823888	H1-hESC	embryonic stem cell:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
19	POLR2A	chr12:57823554-57823860	K562	blood:	n/a	n/a
20	MAX	chr12:57823509-57825250	MCF-7	breast:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
21	MAX	chr12:57823563-57824457	NB4	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
22	MAX	chr12:57823559-57825197	Hela-S3	cervix:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
23	MAX	chr12:57823562-57823908	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
24	MXI1	chr12:57823562-57824191	Hela-S3	cervix:	n/a	chr12:57823711-57823720
25	IRF1	chr12:57823505-57823967	K562	blood:	n/a	chr12:57823542-57823556 chr12:57823678-57823695
26	POLR2A	chr12:57823486-57825257	K562	blood:	n/a	n/a
27	POLR2A	chr12:57823563-57825675	MCF10A-Er-Src	breast:	n/a	n/a
28	CBX3	chr12:57823495-57824263	K562	blood:	n/a	n/a
29	SIN3A	chr12:57823560-57824108	H1-hESC	embryonic stem cell:	n/a	chr12:57823711-57823720
30	POLR2A	chr12:57823119-57824547	PFSK-1	brain:	n/a	n/a
31	MYC	chr12:57823502-57825143	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
32	MXI1	chr12:57823564-57825100	HepG2	liver:	n/a	chr12:57823711-57823720
33	POLR2A	chr12:57821228-57824428	SK-N-MC	brain:	n/a	n/a
34	MXI1	chr12:57823582-57824122	GM12878	blood:	n/a	chr12:57823711-57823720
35	MYC	chr12:57823503-57825224	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
36	MAX	chr12:57823449-57825369	A549	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
37	TAL1	chr12:57823569-57824101	K562	blood:	n/a	n/a
38	MAX	chr12:57823197-57825165	K562	blood:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
39	MYC	chr12:57823524-57824099	MCF10A-Er-Src	breast:	n/a	chr12:57823713-57823721 chr12:57823710-57823720
40	MAZ	chr12:57823301-57825302	IMR90	lung:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
41	MYC	chr12:57823527-57825201	MCF10A-Er-Src	breast:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
42	TEAD4	chr12:57823480-57824146	K562	blood:	n/a	n/a
43	USF1	chr12:57823545-57823909	K562	blood:	n/a	n/a
44	MAX	chr12:57823453-57825256	HepG2	liver:	n/a	chr12:57823713-57823721 chr12:57823710-57823720 chr12:57824528-57824537
45	MTA3	chr12:57823224-57824341	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
2	chr12:57808026..57810781-chr12:57822669..57824932,3	MCF-7	breast:
3	chr12:57675498..57678307-chr12:57822743..57825602,2	MCF-7	breast:
4	chr12:57664699..57666780-chr12:57821580..57823850,2	K562	blood:
5	chr12:57823258..57825830-chr12:58164419..58166506,2	MCF-7	breast:
6	chr12:57822828..57827240-chr12:57828141..57836129,12	MCF-7	breast:
7	chr12:57672368..57674775-chr12:57822497..57825097,2	K562	blood:
8	chr12:57821945..57826454-chr12:57843844..57847049,4	K562	blood:
9	chr12:57685797..57688003-chr12:57821497..57823959,2	K562	blood:
10	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
11	chr12:57822102..57825804-chr12:57846903..57851131,6	MCF-7	breast:
12	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
13	chr12:57734038..57735691-chr12:57822012..57824605,2	MCF-7	breast:
14	chr12:57823516..57824494-chr13:103497987..103498911,2	NB4	blood:
15	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
16	chr12:57654294..57656088-chr12:57822678..57824554,2	MCF-7	breast:
17	chr12:57673763..57676749-chr12:57823251..57825200,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258001	TF binding region
INHBC	TF binding region
ENSG00000134899	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000268367	Chromatin interaction
ENSG00000179912	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000201198	Chromatin interaction
ENSG00000111087	Chromatin interaction
ENSG00000175189	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1106766	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11172134	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap]
rs11172147	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11172181	0.90[EUR][1000 genomes]
rs11609805	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11613352	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11614506	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12313306	0.84[EUR][1000 genomes]
rs12315434	0.87[EUR][1000 genomes]
rs2122982	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2229357	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3741414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760254	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760278	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4760355	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs540730	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs56152729	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs61352607	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73119306	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7397189	0.81[EUR][1000 genomes]
rs7971133	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7974833	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv3446927	chr12:57823485-57825733	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57770800-57824000	Weak transcription	Gastric	stomach
3	chr12:57795400-57823600	Weak transcription	Aorta	Aorta
4	chr12:57822000-57823600	Enhancers	Fetal Heart	heart
5	chr12:57822000-57823600	Enhancers	Placenta	Placenta
6	chr12:57822400-57823600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:57822600-57823600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:57822600-57823600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr12:57822600-57823600	Enhancers	Liver	Liver
10	chr12:57822800-57823600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:57822800-57823600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:57822800-57823600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:57822800-57823600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:57822800-57823600	Active TSS	Fetal Brain Female	brain
15	chr12:57822800-57823800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:57822800-57823800	Enhancers	Small Intestine	intestine
17	chr12:57823000-57823600	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:57823000-57823600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:57823000-57823600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:57823000-57823600	Enhancers	Brain Angular Gyrus	brain
21	chr12:57823000-57823600	Enhancers	Brain Substantia Nigra	brain
22	chr12:57823000-57824000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:57823000-57824000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:57823000-57824000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:57823000-57824200	Flanking Active TSS	K562	blood
26	chr12:57823000-57825200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:57823200-57823600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:57823200-57823600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:57823200-57823600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:57823200-57823600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:57823200-57823600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:57823200-57823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:57823200-57823600	Enhancers	Primary B cells from cord blood	blood
34	chr12:57823200-57823600	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:57823200-57823600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:57823200-57823600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:57823200-57823600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:57823200-57823600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:57823200-57823600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:57823200-57823600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:57823200-57823600	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:57823200-57823600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr12:57823200-57823600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:57823200-57823600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr12:57823200-57823600	Enhancers	Fetal Brain Male	brain
46	chr12:57823200-57823600	Flanking Active TSS	Left Ventricle	heart
47	chr12:57823200-57823600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:57823200-57823600	Flanking Active TSS	NHEK	skin
49	chr12:57823200-57823800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:57823200-57823800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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