Variant report

Variant	rs6983990
Chromosome Location	chr8:126382734-126382735
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	chr8:126374530..126376049-chr8:126380618..126383134,2	K562	blood:

Variant related genes	Relation type
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs56117234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57687393	1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs58818314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs6990205	1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704923	1.00[EUR][1000 genomes]
rs73704928	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs73704939	1.00[EUR][1000 genomes]
rs73704957	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7814242	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[EUR][1000 genomes]
rs7834583	1.00[EUR][1000 genomes]
rs7839038	1.00[EUR][1000 genomes]
rs7839468	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	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
2	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
3	chr8:126368200-126383200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:126372800-126383000	Weak transcription	Hela-S3	cervix
5	chr8:126372800-126383600	Weak transcription	Liver	Liver
6	chr8:126375200-126383000	Weak transcription	Aorta	Aorta
7	chr8:126375400-126383200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:126375400-126383600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:126375400-126383800	Weak transcription	Primary T cells from cord blood	blood
10	chr8:126375400-126383800	Weak transcription	NHLF	lung
11	chr8:126375400-126385800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:126375400-126391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:126375600-126383200	Weak transcription	HMEC	breast
14	chr8:126375600-126383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:126375600-126383800	Weak transcription	NHEK	skin
16	chr8:126375800-126383000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:126375800-126383000	Weak transcription	HUVEC	blood vessel
18	chr8:126377400-126383000	Weak transcription	HSMMtube	muscle
19	chr8:126377600-126383200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:126377600-126383200	Weak transcription	Osteobl	bone
21	chr8:126377600-126383800	Weak transcription	HSMM	muscle
22	chr8:126377600-126386200	Weak transcription	Ovary	ovary
23	chr8:126377800-126383200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:126379400-126383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:126380200-126385800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:126380400-126383000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:126380400-126387400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:126380600-126383200	Weak transcription	Fetal Lung	lung
29	chr8:126381800-126386400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:126382000-126383200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:126382000-126391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:126382200-126383800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:126382200-126394200	Weak transcription	Thymus	Thymus
34	chr8:126382400-126382800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:126382400-126383000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:126382400-126383200	Weak transcription	A549	lung
37	chr8:126382400-126383800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:126382400-126388600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:126382400-126388800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:126382400-126396800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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