Variant report

Variant	rs73332193
Chromosome Location	chr8:125363860-125363861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
2	chr8:125311034..125312561-chr8:125362533..125365224,2	K562	blood:
3	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
4	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10106094	1.00[EUR][1000 genomes]
rs10109751	1.00[EUR][1000 genomes]
rs16899450	1.00[EUR][1000 genomes]
rs28459835	1.00[EUR][1000 genomes]
rs28504426	1.00[EUR][1000 genomes]
rs28613347	1.00[EUR][1000 genomes]
rs28618989	1.00[EUR][1000 genomes]
rs56893629	0.82[AFR][1000 genomes]
rs57363865	1.00[EUR][1000 genomes]
rs58908685	0.82[AFR][1000 genomes]
rs59185013	1.00[AMR][1000 genomes]
rs66726154	0.97[AFR][1000 genomes]
rs73329564	1.00[EUR][1000 genomes]
rs73329572	1.00[EUR][1000 genomes]
rs73329581	1.00[EUR][1000 genomes]
rs73332169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73333906	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73333919	1.00[EUR][1000 genomes]
rs73333922	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73333937	0.82[AFR][1000 genomes]
rs73337905	1.00[EUR][1000 genomes]
rs73343183	1.00[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
2	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:125352000-125366400	Weak transcription	Primary T cells from cord blood	blood
4	chr8:125353000-125376200	Weak transcription	HSMM	muscle
5	chr8:125353200-125364200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:125353200-125364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:125354600-125365000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:125355400-125364000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:125357600-125366600	Weak transcription	Right Ventricle	heart
11	chr8:125358600-125364800	Weak transcription	Psoas Muscle	Psoas
12	chr8:125358600-125365000	Weak transcription	Left Ventricle	heart
13	chr8:125360400-125364800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:125361400-125368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:125362000-125371000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:125362800-125364000	Weak transcription	Fetal Heart	heart
17	chr8:125362800-125367600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:125362800-125382800	Weak transcription	Ovary	ovary
19	chr8:125363000-125364000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:125363000-125364000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:125363000-125369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:125363200-125364200	Enhancers	Small Intestine	intestine
23	chr8:125363200-125365000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:125363400-125364400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:125363400-125368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:125363400-125369400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:125363600-125364400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:125363600-125364600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:125363800-125364000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr8:125363800-125364400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:125363800-125364400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:125363800-125364400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:125363800-125364400	Enhancers	Fetal Intestine Small	intestine
34	chr8:125363800-125364400	Enhancers	Fetal Lung	lung
35	chr8:125363800-125364400	Enhancers	A549	lung
36	chr8:125363800-125364400	Flanking Active TSS	K562	blood
37	chr8:125363800-125364600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:125363800-125365000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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