Variant report

Variant	rs7311952
Chromosome Location	chr12:62953773-62953774
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62953650..62956031-chr12:62956662..62959616,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061987	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10444576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10877856	1.00[JPT][hapmap]
rs10877864	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11174487	1.00[JPT][hapmap]
rs11174504	1.00[JPT][hapmap]
rs11174514	1.00[JPT][hapmap]
rs11174517	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11174518	1.00[JPT][hapmap]
rs11174557	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11174571	1.00[JPT][hapmap]
rs11174575	1.00[JPT][hapmap]
rs11520127	1.00[JPT][hapmap]
rs11613132	1.00[JPT][hapmap]
rs11614022	1.00[JPT][hapmap]
rs12367878	1.00[JPT][hapmap]
rs12369751	1.00[JPT][hapmap]
rs12369961	1.00[JPT][hapmap]
rs17731893	1.00[JPT][hapmap]
rs17732089	1.00[JPT][hapmap]
rs17732182	1.00[JPT][hapmap]
rs2270732	1.00[JPT][hapmap]
rs7296573	1.00[JPT][hapmap]
rs7297093	1.00[JPT][hapmap]
rs7301016	1.00[JPT][hapmap]
rs7302094	1.00[JPT][hapmap]
rs7303825	1.00[JPT][hapmap]
rs7975109	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
4	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:62926200-62955800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:62927400-62967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:62928000-62963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:62932000-62957200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:62934800-62955400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:62935000-62955200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:62935400-62956400	Strong transcription	Placenta	Placenta
16	chr12:62935600-62955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:62936000-62955200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:62936600-62956000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:62936800-62954600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach
21	chr12:62944600-62989000	Weak transcription	Colonic Mucosa	Colon
22	chr12:62945000-62966000	Weak transcription	Esophagus	oesophagus
23	chr12:62945800-62954800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:62946600-62955000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:62947400-62955000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:62948000-62956200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:62948200-62958600	Weak transcription	K562	blood
28	chr12:62949600-62955200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr12:62950200-62960800	Weak transcription	Brain Germinal Matrix	brain
30	chr12:62950200-62966800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:62950400-62995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:62950600-62958400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:62950600-62975000	Weak transcription	Right Ventricle	heart
34	chr12:62950600-62982600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:62950600-62991200	Weak transcription	Gastric	stomach
36	chr12:62950600-62996200	Weak transcription	Small Intestine	intestine
37	chr12:62950800-62968200	Weak transcription	Aorta	Aorta
38	chr12:62950800-62987600	Weak transcription	Pancreas	Pancrea
39	chr12:62950800-62995000	Weak transcription	NHEK	skin
40	chr12:62951000-62954000	Weak transcription	HUVEC	blood vessel
41	chr12:62951000-62954200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:62951000-62954200	Weak transcription	Brain Anterior Caudate	brain
43	chr12:62951000-62966000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:62951000-62987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:62951000-62995600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:62951200-62954000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:62951200-62954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:62951200-62954200	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:62951200-62954200	Weak transcription	Dnd41	blood
50	chr12:62951200-62954200	Weak transcription	NH-A	brain

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