Variant report

Variant	rs4714473
Chromosome Location	chr6:12371711-12371712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12369736..12372267-chr6:12382843..12384665,2	MCF-7	breast:
2	chr6:12371513..12373095-chr6:12381448..12383362,2	MCF-7	breast:
3	chr6:12369315..12371948-chr6:12375261..12377006,2	K562	blood:
4	chr6:12370448..12374214-chr6:12374821..12377575,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10478735	1.00[EUR][1000 genomes]
rs56771990	1.00[EUR][1000 genomes]
rs57291999	1.00[EUR][1000 genomes]
rs60330346	1.00[EUR][1000 genomes]
rs6917941	1.00[EUR][1000 genomes]
rs6921807	1.00[EUR][1000 genomes]
rs6941575	1.00[EUR][1000 genomes]
rs73367570	1.00[EUR][1000 genomes]
rs7738298	1.00[EUR][1000 genomes]
rs7758081	1.00[EUR][1000 genomes]
rs7758251	1.00[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	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12356200-12372000	Weak transcription	Aorta	Aorta
2	chr6:12368200-12372200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:12369000-12374400	Enhancers	Fetal Intestine Small	intestine
4	chr6:12369200-12372200	Enhancers	GM12878-XiMat	blood
5	chr6:12369600-12373800	Enhancers	Fetal Intestine Large	intestine
6	chr6:12370400-12372000	Weak transcription	Spleen	Spleen
7	chr6:12370400-12372000	Enhancers	HepG2	liver
8	chr6:12370400-12372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:12370400-12372800	Enhancers	Liver	Liver
10	chr6:12370600-12372000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:12370800-12372600	Enhancers	Small Intestine	intestine
12	chr6:12370800-12375200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:12371200-12372200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:12371200-12372200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:12371200-12372400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:12371200-12372400	Enhancers	HMEC	breast
17	chr6:12371200-12372400	Enhancers	NHEK	skin
18	chr6:12371200-12372600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:12371200-12372600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:12371200-12372800	Enhancers	Stomach Mucosa	stomach
21	chr6:12371400-12371800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:12371400-12372200	Weak transcription	Pancreas	Pancrea
23	chr6:12371400-12372600	Enhancers	Hela-S3	cervix
24	chr6:12371600-12371800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:12371600-12372400	Flanking Active TSS	A549	lung
26	chr6:12371600-12372600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:12371600-12372600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:12371600-12376200	Weak transcription	Placenta Amnion	Placenta Amnion

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