Variant report

Variant	rs6986577
Chromosome Location	chr8:124687658-124687659
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124481286..124483387-chr8:124686778..124689614,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10505441	1.00[EUR][1000 genomes]
rs11996113	1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	1.00[EUR][1000 genomes]
rs16898849	1.00[EUR][1000 genomes]
rs1975114	1.00[EUR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs4513954	1.00[EUR][1000 genomes]
rs57418226	1.00[EUR][1000 genomes]
rs58056715	1.00[EUR][1000 genomes]
rs58826471	1.00[EUR][1000 genomes]
rs58870794	1.00[EUR][1000 genomes]
rs6981655	1.00[EUR][1000 genomes]
rs6986749	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986773	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004529	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324246	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73330061	1.00[EUR][1000 genomes]
rs7813635	1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr8:124676200-124689800	Weak transcription	Esophagus	oesophagus
2	chr8:124684000-124688600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:124684000-124688800	Weak transcription	HSMMtube	muscle
4	chr8:124684200-124688000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124684200-124688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:124684200-124688200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:124684200-124688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:124684200-124688200	Weak transcription	Colonic Mucosa	Colon
9	chr8:124684200-124688200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:124684200-124688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:124684200-124688400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:124684200-124688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:124684200-124689000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:124684200-124689000	Weak transcription	NHEK	skin
15	chr8:124684200-124689200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:124684200-124689400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:124684200-124689400	Weak transcription	HSMM	muscle
18	chr8:124684200-124689400	Weak transcription	Osteobl	bone
19	chr8:124684200-124689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:124684200-124689600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:124684200-124689600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:124684200-124691000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:124684200-124691200	Weak transcription	NH-A	brain
24	chr8:124684400-124688400	Weak transcription	Fetal Intestine Large	intestine
25	chr8:124684400-124688600	Weak transcription	Small Intestine	intestine
26	chr8:124684400-124689000	Weak transcription	HMEC	breast
27	chr8:124684400-124691800	Weak transcription	Aorta	Aorta
28	chr8:124684400-124692400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:124684600-124689000	Weak transcription	NHDF-Ad	bronchial
30	chr8:124687200-124689600	Weak transcription	Fetal Heart	heart

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