Variant report

Variant	rs7961738
Chromosome Location	chr12:120429075-120429076
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120419275..120421989-chr12:120429002..120431271,2	K562	blood:
2	chr12:120427745..120429727-chr12:120729725..120731576,2	MCF-7	breast:
3	chr12:120427086..120431307-chr12:120435070..120439124,5	MCF-7	breast:
4	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
5	chr12:120428276..120430346-chr12:120637372..120639264,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255857	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10744747	0.97[ASN][1000 genomes]
rs10849732	0.87[EUR][1000 genomes]
rs10849735	0.87[EUR][1000 genomes]
rs11064986	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11064998	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065004	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065014	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11065017	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11065018	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12310591	0.85[EUR][1000 genomes]
rs12311327	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12320072	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12422923	0.84[EUR][1000 genomes]
rs2240311	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2393570	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2893812	0.99[ASN][1000 genomes]
rs3742044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759399	0.81[ASN][1000 genomes]
rs3852586	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3852588	0.80[ASN][1000 genomes]
rs3886910	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3999575	0.81[ASN][1000 genomes]
rs4105713	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4351876	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767870	0.98[ASN][1000 genomes]
rs4767873	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767875	0.82[EUR][1000 genomes]
rs6490278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490280	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490281	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6490284	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7295717	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7298183	0.87[EUR][1000 genomes]
rs7302874	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305625	0.83[EUR][1000 genomes]
rs7306739	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7312811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312971	0.85[EUR][1000 genomes]
rs7314959	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956436	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960725	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7962812	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7971249	0.84[EUR][1000 genomes]
rs7977281	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978927	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
3	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1844134	chr12:120426469-120441443	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1845761	chr12:120426469-120441443	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3421881	chr12:120426594-120429142	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1797666	chr12:120426666-120449259	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv1807589	chr12:120426666-120449259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120426200-120429400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:120427800-120429400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr12:120427800-120431000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:120428000-120429400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr12:120428000-120429600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:120428000-120432200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr12:120428400-120429200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120428400-120429400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:120428400-120429400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:120428400-120435600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:120428600-120429200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:120428600-120429200	Active TSS	Brain Cingulate Gyrus	brain
13	chr12:120428600-120429200	Enhancers	Dnd41	blood
14	chr12:120428600-120429400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:120428600-120429600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr12:120428600-120430600	Enhancers	HepG2	liver
17	chr12:120428600-120445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:120428600-120449800	Weak transcription	Brain Anterior Caudate	brain
19	chr12:120428600-120453200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:120428800-120429200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:120428800-120429200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr12:120428800-120429200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr12:120428800-120429200	Active TSS	Thymus	Thymus
24	chr12:120428800-120429400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:120428800-120429600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr12:120428800-120430200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:120428800-120431800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:120428800-120432400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:120428800-120433200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:120428800-120435800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:120428800-120444000	Weak transcription	NHEK	skin
32	chr12:120428800-120444200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:120428800-120447800	Weak transcription	Gastric	stomach
34	chr12:120428800-120451400	Weak transcription	HMEC	breast
35	chr12:120428800-120451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:120429000-120429200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:120429000-120429200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr12:120429000-120429200	Enhancers	HSMMtube	muscle
39	chr12:120429000-120429400	Active TSS	GM12878-XiMat	blood
40	chr12:120429000-120429800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:120429000-120430400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:120429000-120431400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:120429000-120436200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:120429000-120440600	Weak transcription	Fetal Brain Female	brain
45	chr12:120429000-120443800	Weak transcription	Hela-S3	cervix
46	chr12:120429000-120450000	Weak transcription	Esophagus	oesophagus

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