Variant report

Variant	rs58963249
Chromosome Location	chr8:96059042-96059043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96047784..96050061-chr8:96056115..96059105,2	K562	blood:
2	chr8:96056185..96059291-chr8:96067561..96070788,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57065540	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57068400	1.00[AMR][1000 genomes]
rs59319685	1.00[AMR][1000 genomes]
rs60541843	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166437	1.00[AMR][1000 genomes]
rs61287848	1.00[AMR][1000 genomes]
rs61442579	1.00[AMR][1000 genomes]
rs61454116	1.00[AMR][1000 genomes]
rs6471507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6471508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6987951	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7003431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7813759	1.00[AMR][1000 genomes]
rs7824488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832411	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
2	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:96038200-96059200	Weak transcription	Right Ventricle	heart
4	chr8:96038200-96061000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:96038200-96061200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:96038200-96061200	Weak transcription	Psoas Muscle	Psoas
7	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
9	chr8:96038400-96060600	Weak transcription	NHLF	lung
10	chr8:96038400-96061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:96038400-96063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:96038400-96066800	Weak transcription	Stomach Mucosa	stomach
13	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:96038600-96059200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:96038600-96059800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:96038600-96061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:96038600-96061200	Weak transcription	Small Intestine	intestine
18	chr8:96039200-96061000	Weak transcription	Pancreas	Pancrea
19	chr8:96042800-96072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:96043600-96063600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr8:96044200-96059800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:96044200-96060600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:96044200-96062600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:96044200-96071800	Strong transcription	Dnd41	blood
25	chr8:96044400-96063200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr8:96044400-96066600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:96044400-96066800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:96044600-96065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:96044800-96066600	Strong transcription	Fetal Thymus	thymus
30	chr8:96045000-96068800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:96045200-96060400	Weak transcription	Brain Substantia Nigra	brain
32	chr8:96045800-96064000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:96046200-96061000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:96046400-96070200	Weak transcription	Gastric	stomach
35	chr8:96047000-96059200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:96048400-96071800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:96048600-96060200	Weak transcription	Ovary	ovary
38	chr8:96050000-96063800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:96051600-96061000	Weak transcription	Spleen	Spleen
40	chr8:96052000-96063800	Strong transcription	A549	lung
41	chr8:96052000-96064600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:96052000-96065000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr8:96052000-96065400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:96052200-96065800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:96052200-96070200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:96052400-96068200	Strong transcription	Liver	Liver
47	chr8:96052600-96060400	Strong transcription	Primary B cells from cord blood	blood
48	chr8:96052800-96063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:96052800-96065800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:96053000-96063600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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