Variant report

Variant	rs12334641
Chromosome Location	chr8:49283283-49283284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49282537..49285515-chr8:49321779..49323714,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10089957	0.86[EUR][1000 genomes]
rs10090055	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10093331	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10094488	0.86[EUR][1000 genomes]
rs10094661	1.00[CHB][hapmap]
rs10103603	0.82[EUR][1000 genomes]
rs10107550	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10111777	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10111784	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10441555	0.84[EUR][1000 genomes]
rs11779066	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11780976	0.84[EUR][1000 genomes]
rs11783234	0.84[EUR][1000 genomes]
rs16935766	0.82[EUR][1000 genomes]
rs16935801	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16936586	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28425774	0.84[EUR][1000 genomes]
rs28650140	0.84[EUR][1000 genomes]
rs28690717	0.84[EUR][1000 genomes]
rs28759715	0.84[EUR][1000 genomes]
rs4873278	0.95[EUR][1000 genomes]
rs4873279	0.95[EUR][1000 genomes]
rs7017698	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7833910	0.84[EUR][1000 genomes]
rs7838754	0.84[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	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49281600-49284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:49281800-49284000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:49281800-49284400	Enhancers	NHDF-Ad	bronchial
4	chr8:49282000-49283800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49282000-49284000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:49282000-49284800	Enhancers	Fetal Heart	heart
7	chr8:49282200-49283400	Enhancers	NH-A	brain
8	chr8:49282200-49283600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:49282200-49283600	Enhancers	HUVEC	blood vessel
10	chr8:49282200-49284200	Enhancers	Fetal Intestine Small	intestine
11	chr8:49282200-49284400	Enhancers	Osteobl	bone
12	chr8:49282200-49284800	Enhancers	HSMM	muscle
13	chr8:49282200-49284800	Enhancers	NHLF	lung
14	chr8:49282200-49285000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:49282600-49283400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:49282600-49283400	Enhancers	NHEK	skin
17	chr8:49282600-49284200	Enhancers	Fetal Intestine Large	intestine
18	chr8:49282600-49284400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:49282600-49285000	Enhancers	Fetal Lung	lung
20	chr8:49282600-49286600	Enhancers	Stomach Mucosa	stomach
21	chr8:49282800-49283400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:49282800-49284000	Enhancers	Lung	lung
23	chr8:49282800-49284400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:49282800-49284400	Enhancers	Fetal Stomach	stomach
25	chr8:49282800-49284800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:49282800-49284800	Enhancers	Pancreas	Pancrea
27	chr8:49282800-49285000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:49282800-49285400	Enhancers	Fetal Muscle Trunk	muscle
29	chr8:49282800-49285600	Enhancers	Fetal Muscle Leg	muscle
30	chr8:49282800-49286800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:49282800-49286800	Enhancers	Placenta	Placenta
32	chr8:49282800-49287000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr8:49283000-49283400	Weak transcription	Fetal Kidney	kidney
34	chr8:49283000-49284000	Weak transcription	Colonic Mucosa	Colon
35	chr8:49283000-49284000	Weak transcription	Esophagus	oesophagus
36	chr8:49283000-49284000	Weak transcription	Gastric	stomach
37	chr8:49283000-49284400	Enhancers	A549	lung
38	chr8:49283200-49283600	Weak transcription	Aorta	Aorta
39	chr8:49283200-49283600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:49283200-49283600	Enhancers	HSMMtube	muscle
41	chr8:49283200-49284400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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