Variant report

Variant	rs12680862
Chromosome Location	chr8:119923931-119923932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119837387..119840047-chr8:119922845..119924713,2	K562	blood:
2	chr8:119914374..119916588-chr8:119923602..119925267,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10505350	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs10955917	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs11573819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11573828	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11573849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11573870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11573897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11573905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11985044	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs11986345	0.86[EUR][1000 genomes]
rs11987514	0.86[EUR][1000 genomes]
rs11987528	0.86[EUR][1000 genomes]
rs11990877	0.86[EUR][1000 genomes]
rs11992045	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs11992070	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs11992072	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes]
rs11992370	0.86[EUR][1000 genomes]
rs11992916	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap]
rs11994357	0.86[EUR][1000 genomes]
rs12056490	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12056908	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12675217	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes]
rs12676636	0.86[EUR][1000 genomes]
rs12677975	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs12678216	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs16891911	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs16891913	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs17684050	1.00[YRI][hapmap]
rs17758108	0.86[EUR][1000 genomes]
rs17758126	0.86[EUR][1000 genomes]
rs17758162	0.86[EUR][1000 genomes]
rs17758186	0.86[EUR][1000 genomes]
rs17758222	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs17758258	0.86[EUR][1000 genomes]
rs17831135	0.86[EUR][1000 genomes]
rs17831147	0.86[EUR][1000 genomes]
rs17831171	0.86[EUR][1000 genomes]
rs17831322	0.86[EUR][1000 genomes]
rs56655201	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56764969	0.86[EUR][1000 genomes]
rs58729255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469791	0.86[EUR][1000 genomes]
rs6996974	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs73709519	0.86[EUR][1000 genomes]
rs73711408	0.86[EUR][1000 genomes]
rs73711412	0.86[EUR][1000 genomes]
rs7823809	0.91[EUR][1000 genomes]
rs7829123	0.86[EUR][1000 genomes]
rs7835846	0.86[EUR][1000 genomes]
rs7837123	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs9642843	0.86[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119918600-119926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:119920600-119929200	Enhancers	HSMM	muscle
3	chr8:119921000-119927000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:119921200-119927200	Enhancers	NHDF-Ad	bronchial
5	chr8:119921200-119929000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:119921400-119927000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:119921600-119926800	Enhancers	HSMMtube	muscle
8	chr8:119921800-119927000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:119921800-119927000	Enhancers	Osteobl	bone
10	chr8:119922000-119926800	Enhancers	NHLF	lung
11	chr8:119922200-119924600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:119922200-119926000	Enhancers	NH-A	brain
13	chr8:119922400-119927000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:119922800-119924800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:119923000-119925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:119923000-119925200	Weak transcription	Hela-S3	cervix
17	chr8:119923200-119924800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:119923200-119925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:119923200-119925800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:119923200-119926400	Weak transcription	NHEK	skin
21	chr8:119923600-119925000	Weak transcription	HMEC	breast
22	chr8:119923600-119928200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:119923800-119924000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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