Variant report

Variant	rs6996780
Chromosome Location	chr8:121231899-121231900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10808508	0.89[EUR][1000 genomes]
rs10955962	0.87[EUR][1000 genomes]
rs11773991	0.91[EUR][1000 genomes]
rs12542144	0.89[EUR][1000 genomes]
rs12543412	0.91[EUR][1000 genomes]
rs12547117	0.86[EUR][1000 genomes]
rs2034841	0.89[EUR][1000 genomes]
rs2034842	0.89[EUR][1000 genomes]
rs2054148	0.86[EUR][1000 genomes]
rs2219246	0.89[EUR][1000 genomes]
rs2305597	0.81[ASN][1000 genomes]
rs2305600	0.82[EUR][1000 genomes]
rs2875940	0.80[EUR][1000 genomes]
rs35784860	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765062	0.87[EUR][1000 genomes]
rs4870722	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870723	0.90[EUR][1000 genomes]
rs4870724	0.90[EUR][1000 genomes]
rs56159702	0.91[EUR][1000 genomes]
rs58829748	0.91[EUR][1000 genomes]
rs59767583	0.82[ASN][1000 genomes]
rs6988293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989074	0.91[EUR][1000 genomes]
rs6994973	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004406	0.81[ASN][1000 genomes]
rs7015242	0.82[ASN][1000 genomes]
rs7018223	0.82[ASN][1000 genomes]
rs7387094	0.89[EUR][1000 genomes]
rs7387373	0.91[EUR][1000 genomes]
rs921861	0.88[EUR][1000 genomes]
rs957694	0.86[EUR][1000 genomes]
rs957695	0.86[EUR][1000 genomes]
rs957696	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121214200-121253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:121215200-121260600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121217200-121233000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:121217200-121261600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:121217400-121233000	Weak transcription	NHDF-Ad	bronchial
6	chr8:121217400-121234400	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:121217800-121233800	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:121218000-121233000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:121222200-121255200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:121224400-121233000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:121224800-121243800	Weak transcription	Placenta	Placenta
12	chr8:121229600-121249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:121230000-121233000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:121230200-121233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121230200-121233000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:121230200-121233000	Weak transcription	Osteobl	bone
17	chr8:121230800-121232000	Strong transcription	Fetal Lung	lung
18	chr8:121231000-121232000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:121231200-121238800	Weak transcription	Aorta	Aorta
20	chr8:121231400-121232000	Strong transcription	Fetal Stomach	stomach
21	chr8:121231400-121232000	Enhancers	Ovary	ovary

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