Variant report

Variant	rs7963730
Chromosome Location	chr12:11865280-11865281
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	chr12:11802553..11805174-chr12:11862801..11866673,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10491985	1.00[CEU][hapmap]
rs10772496	1.00[CEU][hapmap]
rs12578238	1.00[CEU][hapmap]
rs205542	1.00[CEU][hapmap]
rs2277394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416881	1.00[CEU][hapmap]
rs2541122	1.00[CEU][hapmap]
rs2541129	1.00[CEU][hapmap]
rs2724649	1.00[CEU][hapmap]
rs2856308	1.00[CEU][hapmap]
rs2856309	1.00[CEU][hapmap]
rs2856310	1.00[CEU][hapmap]
rs2856311	1.00[CEU][hapmap]
rs2856316	1.00[CEU][hapmap]
rs2908839	1.00[CEU][hapmap]
rs3020922	1.00[CEU][hapmap]
rs34942088	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57589633	0.91[ASN][1000 genomes]
rs57640548	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57764798	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57857300	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7955206	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956753	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11838800-11872200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:11841800-11867400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:11848000-11872200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:11853000-11872000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:11853200-11870400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:11854800-11872600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:11855200-11871800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:11855400-11868200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:11857000-11876800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:11858600-11870400	Weak transcription	NHLF	lung
13	chr12:11859200-11872000	Weak transcription	HSMMtube	muscle
14	chr12:11860000-11867600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:11860000-11869800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:11860400-11871600	Weak transcription	Placenta	Placenta
17	chr12:11860600-11868400	Weak transcription	Fetal Intestine Large	intestine
18	chr12:11860600-11869400	Weak transcription	NH-A	brain
19	chr12:11860800-11865400	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:11860800-11869400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:11860800-11869400	Weak transcription	Esophagus	oesophagus
22	chr12:11860800-11869400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:11860800-11869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:11860800-11869800	Weak transcription	Colonic Mucosa	Colon
25	chr12:11860800-11869800	Weak transcription	Fetal Kidney	kidney
26	chr12:11860800-11869800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:11860800-11870600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:11860800-11870600	Weak transcription	NHEK	skin
29	chr12:11860800-11871000	Weak transcription	Fetal Brain Male	brain
30	chr12:11860800-11871200	Weak transcription	Lung	lung
31	chr12:11861000-11869800	Weak transcription	HMEC	breast
32	chr12:11861200-11866200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:11861200-11866800	Weak transcription	Small Intestine	intestine
34	chr12:11861200-11872400	Strong transcription	Dnd41	blood
35	chr12:11861400-11866800	Weak transcription	Right Atrium	heart
36	chr12:11861400-11869400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:11861400-11869800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:11861600-11865400	Weak transcription	Gastric	stomach
39	chr12:11861600-11866800	Weak transcription	Right Ventricle	heart
40	chr12:11861600-11866800	Weak transcription	Thymus	Thymus
41	chr12:11861600-11867600	Weak transcription	Fetal Intestine Small	intestine
42	chr12:11861600-11868400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:11861600-11869800	Weak transcription	Fetal Stomach	stomach
44	chr12:11861600-11869800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:11861800-11865800	Strong transcription	GM12878-XiMat	blood
46	chr12:11861800-11866600	Genic enhancers	Primary hematopoietic stem cells	blood
47	chr12:11861800-11867200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:11861800-11869800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:11861800-11876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:11862000-11872000	Weak transcription	HSMM	muscle

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