Variant report

Variant	rs73633762
Chromosome Location	chr8:42595311-42595312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11992987	1.00[AMR][1000 genomes]
rs11993799	1.00[AMR][1000 genomes]
rs11994115	1.00[AMR][1000 genomes]
rs11995172	1.00[AMR][1000 genomes]
rs28840077	1.00[AMR][1000 genomes]
rs35327613	1.00[AMR][1000 genomes]
rs35506493	1.00[AMR][1000 genomes]
rs57071761	1.00[AMR][1000 genomes]
rs60133450	1.00[AMR][1000 genomes]
rs6985448	1.00[AMR][1000 genomes]
rs6989452	1.00[AMR][1000 genomes]
rs73627250	1.00[AMR][1000 genomes]
rs73633750	1.00[AMR][1000 genomes]
rs73633763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634623	1.00[AMR][1000 genomes]
rs73634627	1.00[AMR][1000 genomes]
rs73634652	1.00[AMR][1000 genomes]
rs73635357	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42588600-42595400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:42591400-42595600	Enhancers	Primary T cells from cord blood	blood
3	chr8:42591400-42596600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:42591400-42596800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:42592200-42597200	Weak transcription	Right Ventricle	heart
6	chr8:42592400-42595800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:42592400-42599000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:42592400-42602000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:42592600-42595400	Weak transcription	HSMM	muscle
10	chr8:42592800-42595600	Weak transcription	Thymus	Thymus
11	chr8:42592800-42595600	Weak transcription	HUVEC	blood vessel
12	chr8:42592800-42596200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:42592800-42596200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:42592800-42596200	Weak transcription	Psoas Muscle	Psoas
15	chr8:42592800-42598800	Weak transcription	Left Ventricle	heart
16	chr8:42593000-42595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:42593000-42596000	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:42593000-42597000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:42593400-42596600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:42593600-42596600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:42594000-42596200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:42594000-42596400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:42594000-42596800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:42594200-42596400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:42594200-42599800	Enhancers	Fetal Thymus	thymus
26	chr8:42594600-42597400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:42594600-42600000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr8:42594800-42595400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:42594800-42596600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:42594800-42596800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:42594800-42599800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:42594800-42600000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr8:42595000-42595400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:42595000-42595800	Enhancers	HepG2	liver
35	chr8:42595000-42596200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:42595000-42596400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:42595000-42596400	Enhancers	HSMMtube	muscle
38	chr8:42595000-42596600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:42595000-42596600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:42595000-42596600	Enhancers	NHLF	lung
41	chr8:42595000-42596800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:42595000-42597200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:42595000-42597400	Enhancers	A549	lung
44	chr8:42595000-42597400	Enhancers	Osteobl	bone
45	chr8:42595000-42597600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:42595000-42599200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr8:42595000-42599400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:42595000-42599800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:42595200-42595600	Weak transcription	Pancreas	Pancrea
50	chr8:42595200-42595800	Enhancers	GM12878-XiMat	blood

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