Variant report

Variant	rs7965316
Chromosome Location	chr12:64322133-64322134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64321248..64323629-chr12:64327689..64329232,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10437967	0.91[ASN][1000 genomes]
rs10784373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10784374	0.92[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10878094	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10878096	0.84[ASW][hapmap];0.86[YRI][hapmap]
rs10878097	0.86[YRI][hapmap]
rs11175208	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11175209	0.83[ASW][hapmap];1.00[LWK][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs12230334	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3911399	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3911400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7973936	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9668434	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:64312200-64324200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:64312400-64331600	Weak transcription	Right Atrium	heart
4	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
5	chr12:64312800-64324200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:64312800-64324600	Weak transcription	Fetal Lung	lung
7	chr12:64312800-64331200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:64312800-64331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:64313000-64334400	Weak transcription	Psoas Muscle	Psoas
10	chr12:64313200-64330600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:64313200-64331600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:64313200-64331600	Weak transcription	Left Ventricle	heart
13	chr12:64313200-64334400	Weak transcription	Pancreas	Pancrea
14	chr12:64314200-64331200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:64316600-64322200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:64316600-64338400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:64316800-64322200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:64316800-64322600	Weak transcription	HSMM	muscle
19	chr12:64316800-64322800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:64316800-64322800	Weak transcription	NHLF	lung
21	chr12:64317000-64322600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:64317000-64322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:64317000-64322800	Weak transcription	HMEC	breast
24	chr12:64317000-64324600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:64317000-64324800	Weak transcription	HSMMtube	muscle
26	chr12:64317200-64322600	Weak transcription	NHEK	skin
27	chr12:64317200-64327800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:64318800-64322800	Weak transcription	Osteobl	bone
29	chr12:64319000-64322200	Weak transcription	NHDF-Ad	bronchial
30	chr12:64319000-64323400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:64319000-64331200	Weak transcription	Brain Anterior Caudate	brain
32	chr12:64319800-64324000	Weak transcription	Fetal Brain Female	brain
33	chr12:64319800-64331600	Weak transcription	Right Ventricle	heart
34	chr12:64321200-64322400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:64321200-64324200	Weak transcription	Fetal Brain Male	brain
36	chr12:64321400-64322200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:64321600-64322200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:64321600-64322800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:64321600-64322800	Weak transcription	A549	lung
40	chr12:64321800-64322600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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