Variant report

Variant	rs9643193
Chromosome Location	chr8:125365233-125365234
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	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
2	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12056758	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114111	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28773576	0.81[EUR][1000 genomes]
rs28864761	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28883585	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4612323	0.93[EUR][1000 genomes]
rs61565932	0.81[EUR][1000 genomes]
rs72711166	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72711168	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72711169	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72711174	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72711185	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72711202	0.95[EUR][1000 genomes]
rs72713207	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7387220	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7387895	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7388170	0.86[EUR][1000 genomes]
rs7388224	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7829851	0.89[AMR][1000 genomes];0.95[EUR][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	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3384288	chr8:125350820-125377284	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	6 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	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125352000-125366400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:125353000-125376200	Weak transcription	HSMM	muscle
4	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:125357600-125366600	Weak transcription	Right Ventricle	heart
6	chr8:125361400-125368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:125362000-125371000	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:125362800-125367600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:125362800-125382800	Weak transcription	Ovary	ovary
10	chr8:125363000-125369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:125363400-125368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:125363400-125369400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr8:125364200-125366600	Weak transcription	Small Intestine	intestine
14	chr8:125364400-125365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:125364400-125366200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:125364400-125366400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:125364400-125366600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:125364400-125366800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:125364400-125366800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:125364400-125367400	Weak transcription	A549	lung
21	chr8:125364400-125368000	Weak transcription	NHDF-Ad	bronchial
22	chr8:125364400-125369400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:125364400-125376400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:125364600-125366400	Weak transcription	Fetal Heart	heart
26	chr8:125364800-125365600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:125364800-125365600	Enhancers	Psoas Muscle	Psoas
28	chr8:125365000-125365400	Enhancers	Left Ventricle	heart
29	chr8:125365000-125365400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:125365000-125365600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:125365000-125368000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:125365000-125368000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:125365000-125370800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:125365200-125366600	Weak transcription	Pancreas	Pancrea
35	chr8:125365200-125366600	Weak transcription	Right Atrium	heart
36	chr8:125365200-125366600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:125365200-125366800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr8:125365200-125370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:125365200-125370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:125365200-125376200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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