Variant report

Variant	rs61308131
Chromosome Location	chr8:102914891-102914892
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	chr8:102912593..102916375-chr8:102916443..102918583,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11997578	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs16868433	1.00[EUR][1000 genomes]
rs16868457	1.00[EUR][1000 genomes]
rs55824424	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55939093	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56047034	0.80[AFR][1000 genomes]
rs56731949	0.83[EUR][1000 genomes]
rs57350304	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs58133251	0.83[EUR][1000 genomes]
rs58912743	0.83[EUR][1000 genomes]
rs59182464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59217267	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59278862	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs59332201	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs60240355	0.83[EUR][1000 genomes]
rs60942694	0.83[EUR][1000 genomes]
rs61383411	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6998151	1.00[EUR][1000 genomes]
rs6998300	1.00[EUR][1000 genomes]
rs7005622	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73277021	1.00[EUR][1000 genomes]
rs73280876	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73280878	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280879	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280880	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280885	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280888	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280889	1.00[EUR][1000 genomes]
rs73280891	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280895	1.00[EUR][1000 genomes]
rs73290537	0.83[EUR][1000 genomes]
rs73696511	1.00[EUR][1000 genomes]
rs73696550	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73696551	0.92[AMR][1000 genomes]
rs73696582	0.83[EUR][1000 genomes]
rs73696583	0.83[EUR][1000 genomes]
rs73696584	0.83[EUR][1000 genomes]
rs7839949	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102910200-102916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:102910200-102919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:102914000-102916200	Enhancers	Lung	lung
4	chr8:102914200-102915400	Flanking Active TSS	GM12878-XiMat	blood
5	chr8:102914200-102915400	Enhancers	NHEK	skin
6	chr8:102914200-102916400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:102914200-102916400	Enhancers	HMEC	breast
8	chr8:102914200-102916600	Enhancers	Fetal Heart	heart
9	chr8:102914400-102915000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:102914400-102915400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:102914400-102915400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:102914600-102915000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:102914600-102915000	Enhancers	Brain Angular Gyrus	brain
14	chr8:102914600-102915000	Enhancers	Brain Anterior Caudate	brain
15	chr8:102914600-102915000	Enhancers	Fetal Lung	lung
16	chr8:102914600-102915000	Enhancers	Pancreas	Pancrea
17	chr8:102914600-102915000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr8:102914600-102915200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:102914600-102915200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:102914600-102915200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr8:102914600-102915200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:102914600-102915200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr8:102914600-102915200	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:102914600-102915200	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr8:102914600-102915200	Enhancers	Stomach Mucosa	stomach
26	chr8:102914600-102915200	Enhancers	A549	lung
27	chr8:102914600-102915400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:102914600-102915400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:102914600-102915400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:102914600-102915400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:102914600-102915400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:102914600-102915400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:102914600-102915400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:102914600-102915400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr8:102914600-102915400	Enhancers	Fetal Thymus	thymus
36	chr8:102914600-102915400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr8:102914600-102915400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr8:102914600-102915400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr8:102914600-102915400	Enhancers	HSMM	muscle
40	chr8:102914600-102915600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:102914600-102915800	Enhancers	Esophagus	oesophagus
42	chr8:102914600-102916000	Enhancers	Left Ventricle	heart
43	chr8:102914600-102916000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:102914600-102916000	Enhancers	Spleen	Spleen
45	chr8:102914600-102916200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:102914600-102916200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:102914800-102915000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:102914800-102915000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:102914800-102915000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:102914800-102915000	Active TSS	Colon Smooth Muscle	Colon

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