Variant report

Variant	rs59182464
Chromosome Location	chr8:102914469-102914470
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: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11986985	1.00[ASN][1000 genomes]
rs11997578	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs55824424	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55939093	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56047034	0.85[AFR][1000 genomes]
rs57350304	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs58133251	1.00[ASN][1000 genomes]
rs59217267	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59278862	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs59332201	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs61308131	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61383411	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs6998151	1.00[ASN][1000 genomes]
rs6998300	1.00[ASN][1000 genomes]
rs7005622	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73280876	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73280878	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280879	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280880	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280885	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280888	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280891	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73280895	1.00[ASN][1000 genomes]
rs73290537	1.00[ASN][1000 genomes]
rs73696511	1.00[ASN][1000 genomes]
rs73696550	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs73696551	0.92[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102896400-102914800	Weak transcription	Right Ventricle	heart
2	chr8:102898000-102914600	Weak transcription	Ovary	ovary
3	chr8:102899600-102914600	Weak transcription	Left Ventricle	heart
4	chr8:102904200-102914600	Weak transcription	K562	blood
5	chr8:102910200-102914600	Weak transcription	Liver	Liver
6	chr8:102910200-102916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:102910200-102919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:102914000-102914600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:102914000-102914800	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:102914000-102914800	Enhancers	Fetal Muscle Leg	muscle
11	chr8:102914000-102916200	Enhancers	Lung	lung
12	chr8:102914200-102914600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:102914200-102915400	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:102914200-102915400	Enhancers	NHEK	skin
15	chr8:102914200-102916400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:102914200-102916400	Enhancers	HMEC	breast
17	chr8:102914200-102916600	Enhancers	Fetal Heart	heart
18	chr8:102914400-102914600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:102914400-102914600	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:102914400-102914600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:102914400-102914600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:102914400-102914600	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:102914400-102914600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr8:102914400-102914600	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:102914400-102914600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:102914400-102914600	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:102914400-102914600	Enhancers	NHDF-Ad	bronchial
28	chr8:102914400-102914800	Weak transcription	Primary T cells from cord blood	blood
29	chr8:102914400-102914800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:102914400-102915000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:102914400-102915400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:102914400-102915400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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