Variant report

Variant	rs7965326
Chromosome Location	chr12:62660483-62660484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62652133..62655871-chr12:62655983..62662487,11	MCF-7	breast:
2	chr12:62658927..62663716-chr12:62665926..62669269,6	K562	blood:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10431509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10431510	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10431565	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10747958	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10877820	0.82[ASN][1000 genomes]
rs10877824	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877829	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877831	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11174401	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174404	1.00[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174408	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174409	0.82[ASN][1000 genomes]
rs11174410	0.82[ASN][1000 genomes]
rs11174411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174412	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174416	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174417	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174418	0.82[ASN][1000 genomes]
rs11174420	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174423	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174424	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174433	0.91[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174435	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174438	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11174449	1.00[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs11504121	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11561463	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11830242	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228015	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.84[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12231778	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12299072	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12306066	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12307900	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12310318	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12310616	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12311279	0.82[ASN][1000 genomes]
rs12424732	0.85[LWK][hapmap];0.93[MKK][hapmap]
rs1376342	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1496859	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1901239	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2131434	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2131435	0.82[ASN][1000 genomes]
rs2132651	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2242032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs35634758	0.82[ASN][1000 genomes]
rs3803106	0.82[ASN][1000 genomes]
rs6581444	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67044039	0.82[ASN][1000 genomes]
rs67853252	0.82[ASN][1000 genomes]
rs7132814	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7133294	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7137068	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7295013	0.82[ASN][1000 genomes]
rs7298827	0.82[ASN][1000 genomes]
rs7300928	0.82[ASN][1000 genomes]
rs7302033	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7302617	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7953967	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7976058	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs902971	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62654800-62660600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:62655000-62663400	Weak transcription	Lung	lung
3	chr12:62655400-62660800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:62655400-62685600	Weak transcription	HSMM	muscle
5	chr12:62655600-62661400	Weak transcription	NH-A	brain
6	chr12:62655800-62661200	Weak transcription	Osteobl	bone
7	chr12:62656000-62660800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:62656000-62661000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:62656000-62661200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:62656000-62661400	Weak transcription	Stomach Mucosa	stomach
11	chr12:62656000-62662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:62656000-62663200	Weak transcription	Placenta	Placenta
13	chr12:62656000-62664800	Weak transcription	Fetal Stomach	stomach
14	chr12:62656000-62665400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
16	chr12:62656200-62661000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:62656200-62661200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:62656400-62661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:62656400-62669600	Enhancers	Liver	Liver
20	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
21	chr12:62656600-62660800	Weak transcription	NHLF	lung
22	chr12:62656600-62661000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:62656600-62661000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:62656600-62661400	Weak transcription	HMEC	breast
25	chr12:62656600-62661400	Weak transcription	HUVEC	blood vessel
26	chr12:62656600-62662200	Weak transcription	Adipose Nuclei	Adipose
27	chr12:62656600-62663200	Weak transcription	Ovary	ovary
28	chr12:62656600-62664000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:62656600-62668400	Weak transcription	Fetal Brain Female	brain
30	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
31	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
32	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:62657400-62661000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:62657400-62666600	Weak transcription	HepG2	liver
35	chr12:62657800-62661000	Weak transcription	A549	lung
36	chr12:62658000-62661000	Weak transcription	Fetal Intestine Large	intestine
37	chr12:62658000-62663200	Weak transcription	Thymus	Thymus
38	chr12:62658200-62661000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:62658200-62661000	Weak transcription	Fetal Thymus	thymus
40	chr12:62658200-62661200	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:62658200-62661200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:62658200-62661200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:62658200-62661400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:62658400-62669400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:62658400-62671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:62658400-62671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:62658800-62662200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:62659000-62661200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:62659000-62662400	Enhancers	Dnd41	blood
50	chr12:62659000-62662800	Enhancers	Primary hematopoietic stem cells	blood

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