Variant report

Variant	rs4763719
Chromosome Location	chr12:11877420-11877421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11866545..11868091-chr12:11875142..11877760,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1009951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1009953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1009954	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743967	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845407	0.94[EUR][1000 genomes]
rs10845408	0.81[CHD][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs11054421	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs11054423	0.82[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs11054424	0.83[EUR][1000 genomes]
rs11054429	0.84[EUR][1000 genomes]
rs11054433	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11054439	0.84[EUR][1000 genomes]
rs12228191	0.94[EUR][1000 genomes]
rs12369491	0.92[CEU][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs17818461	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17818498	0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs17818624	0.82[CEU][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs2051525	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2187641	0.96[CEU][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes]
rs2187642	0.81[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2416882	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs2416883	0.92[CEU][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs2724588	0.82[CEU][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs2724599	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2724600	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2724616	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs2724618	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2724633	0.82[EUR][1000 genomes]
rs2724635	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2724645	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724648	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs2856321	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs2856322	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2856324	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2856338	0.89[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2856344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2860431	0.96[CEU][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs2900208	0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs2954980	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs4763720	0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs4763721	0.94[EUR][1000 genomes]
rs7488701	0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs762717	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs972798	0.89[CEU][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]

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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11827400-11879800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:11848800-11879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:11865200-11879400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:11865800-11879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:11870200-11885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:11870400-11879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:11870800-11879800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:11870800-11879800	Weak transcription	Fetal Kidney	kidney
9	chr12:11872200-11880200	Weak transcription	Fetal Brain Male	brain
10	chr12:11872800-11878000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:11872800-11879400	Weak transcription	Primary T cells from cord blood	blood
12	chr12:11872800-11880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:11873000-11879000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:11873000-11882000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:11873000-11882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:11873200-11877800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:11873200-11881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:11873200-11881000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:11873200-11902400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:11873200-11909400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:11873400-11877800	Weak transcription	NHEK	skin
22	chr12:11873400-11878800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:11873400-11880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:11873400-11894200	Weak transcription	NHLF	lung
25	chr12:11873600-11881000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:11873800-11878800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:11873800-11881200	Weak transcription	Osteobl	bone
28	chr12:11874000-11877800	Weak transcription	HMEC	breast
29	chr12:11874200-11885400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:11874400-11878800	Enhancers	Small Intestine	intestine
31	chr12:11874600-11878400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:11875000-11888600	Enhancers	Primary B cells from peripheral blood	blood
33	chr12:11875200-11878400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:11875400-11879200	Genic enhancers	Fetal Thymus	thymus
35	chr12:11875600-11879400	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:11875600-11883400	Enhancers	Stomach Mucosa	stomach
37	chr12:11875800-11879200	Weak transcription	HepG2	liver
38	chr12:11876000-11878600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:11876200-11878000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:11876400-11878400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:11876400-11878600	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:11876400-11879000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:11876400-11879600	Enhancers	Fetal Muscle Leg	muscle
44	chr12:11876400-11880600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr12:11876600-11877800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:11876600-11877800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr12:11876600-11878000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:11876600-11878000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:11876600-11878000	Enhancers	Brain Hippocampus Middle	brain
50	chr12:11876600-11878000	Enhancers	Sigmoid Colon	Sigmoid Colon

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