Variant report

Variant	rs12334798
Chromosome Location	chr8:49285399-49285400
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	chr8:49282537..49285515-chr8:49321779..49323714,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10504063	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989429	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12334582	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334834	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707987	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13259359	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13268799	0.84[EUR][1000 genomes]
rs34639799	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6990833	0.90[TSI][hapmap]
rs7002733	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7012665	0.88[TSI][hapmap]
rs7013259	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7818323	0.95[TSI][hapmap]
rs871920	0.80[ASN][1000 genomes]
rs955467	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs955819	0.80[ASN][1000 genomes]
rs9792273	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9792381	0.88[EUR][1000 genomes];0.83[ASN][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49282600-49286600	Enhancers	Stomach Mucosa	stomach
2	chr8:49282800-49285400	Enhancers	Fetal Muscle Trunk	muscle
3	chr8:49282800-49285600	Enhancers	Fetal Muscle Leg	muscle
4	chr8:49282800-49286800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:49282800-49286800	Enhancers	Placenta	Placenta
6	chr8:49282800-49287000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:49283400-49286200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:49283400-49288600	Weak transcription	NH-A	brain
9	chr8:49283800-49285600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:49283800-49285800	Enhancers	HSMMtube	muscle
11	chr8:49284000-49285400	Enhancers	Esophagus	oesophagus
12	chr8:49284000-49285600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:49284000-49285800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:49284000-49286400	Enhancers	Gastric	stomach
15	chr8:49284200-49291000	Weak transcription	Fetal Intestine Small	intestine
16	chr8:49284200-49291400	Weak transcription	Fetal Kidney	kidney
17	chr8:49284400-49285600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:49284400-49285600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:49284400-49285600	Weak transcription	NHDF-Ad	bronchial
20	chr8:49284400-49285600	Weak transcription	Osteobl	bone
21	chr8:49284400-49285800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:49284400-49289200	Weak transcription	Fetal Stomach	stomach
23	chr8:49284800-49286000	Weak transcription	Lung	lung
24	chr8:49284800-49288000	Weak transcription	NHLF	lung
25	chr8:49284800-49288600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:49284800-49289000	Weak transcription	HSMM	muscle
27	chr8:49285000-49285600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:49285000-49286000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:49285000-49286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:49285000-49289800	Weak transcription	Fetal Lung	lung

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