Variant report

Variant	rs10947954
Chromosome Location	chr6:12343961-12343962
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12288501..12289080-chr6:12343666..12344460,2	MCF-7	breast:
2	chr6:12341804..12346306-chr6:12347487..12351106,5	MCF-7	breast:
3	chr6:12343799..12344581-chr6:12371956..12372456,2	MCF-7	breast:
4	chr6:12288259..12289080-chr6:12343666..12344329,3	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10947946	0.83[MEX][hapmap]
rs1317584	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4714429	0.91[GIH][hapmap];0.89[MEX][hapmap]
rs57906680	0.92[AMR][1000 genomes];0.89[EUR][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	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv528681	chr6:12340034-12362219	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12332200-12344000	Weak transcription	Aorta	Aorta
2	chr6:12337200-12348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:12338200-12345800	Enhancers	Fetal Intestine Small	intestine
4	chr6:12338800-12345800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:12339000-12346200	Enhancers	Fetal Intestine Large	intestine
6	chr6:12340800-12344000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:12340800-12348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:12341000-12348000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:12341400-12344000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:12341600-12344800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:12341600-12345800	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:12341600-12346800	Enhancers	Stomach Mucosa	stomach
13	chr6:12341800-12344400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:12342000-12344200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:12342000-12344200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr6:12342000-12344400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:12342000-12344600	Enhancers	Hela-S3	cervix
18	chr6:12342000-12347000	Enhancers	Pancreas	Pancrea
19	chr6:12342400-12344200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:12342600-12344200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:12342600-12344200	Flanking Active TSS	A549	lung
22	chr6:12342600-12346600	Weak transcription	Gastric	stomach
23	chr6:12343000-12344000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:12343000-12344000	Enhancers	Osteobl	bone
25	chr6:12343000-12344800	Flanking Active TSS	Liver	Liver
26	chr6:12343200-12344000	Enhancers	GM12878-XiMat	blood
27	chr6:12343200-12348800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:12343200-12348800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:12343200-12351400	Weak transcription	Colonic Mucosa	Colon
30	chr6:12343400-12344400	Enhancers	NHEK	skin
31	chr6:12343400-12344800	Enhancers	Fetal Kidney	kidney
32	chr6:12343400-12344800	Enhancers	HUVEC	blood vessel
33	chr6:12343600-12344200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr6:12343600-12344400	Flanking Active TSS	HepG2	liver
35	chr6:12343600-12344600	Enhancers	Lung	lung
36	chr6:12343600-12344600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr6:12343600-12345400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:12343800-12344000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:12343800-12344200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:12343800-12344200	Enhancers	Primary B cells from peripheral blood	blood
41	chr6:12343800-12344400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr6:12343800-12344400	Enhancers	NH-A	brain
43	chr6:12343800-12345000	Enhancers	Placenta	Placenta
44	chr6:12343800-12345200	Enhancers	Small Intestine	intestine
45	chr6:12343800-12345400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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