Variant report

Variant	rs72711182
Chromosome Location	chr8:125370022-125370023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49057558..49059762-chr8:125368622..125371309,2	MCF-7	breast:
2	chr8:125366683..125371007-chr8:125384186..125388697,5	K562	blood:
3	chr8:125366370..125371248-chr8:125383154..125386121,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199032	Chromatin interaction
ENSG00000207605	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000164983	Chromatin interaction
ENSG00000178057	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10107999	0.82[ASN][1000 genomes]
rs16899526	0.82[ASN][1000 genomes]
rs17369980	0.95[ASN][1000 genomes]
rs4295647	0.98[ASN][1000 genomes]
rs5006381	0.82[ASN][1000 genomes]
rs55997863	0.82[ASN][1000 genomes]
rs56041216	0.87[ASN][1000 genomes]
rs56274121	0.82[ASN][1000 genomes]
rs60432228	0.81[AFR][1000 genomes]
rs61733521	0.82[ASN][1000 genomes]
rs6470239	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66622109	0.82[ASN][1000 genomes]
rs66726154	0.96[ASN][1000 genomes]
rs67647956	0.82[ASN][1000 genomes]
rs72710855	0.96[ASN][1000 genomes]
rs72710858	0.96[ASN][1000 genomes]
rs72710860	0.96[ASN][1000 genomes]
rs72710862	0.96[ASN][1000 genomes]
rs72710871	0.98[ASN][1000 genomes]
rs72710872	0.95[ASN][1000 genomes]
rs72711165	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72711173	0.89[EUR][1000 genomes]
rs72711178	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72711187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711189	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711190	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711193	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711199	0.96[ASN][1000 genomes]
rs72711201	0.96[ASN][1000 genomes]
rs72721415	0.82[ASN][1000 genomes]
rs72721416	0.82[ASN][1000 genomes]
rs72721431	0.96[ASN][1000 genomes]
rs72721433	0.96[ASN][1000 genomes]
rs72721442	0.96[ASN][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125353000-125376200	Weak transcription	HSMM	muscle
2	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:125362000-125371000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125362800-125382800	Weak transcription	Ovary	ovary
5	chr8:125364400-125376400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:125365000-125370800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:125365200-125370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:125365200-125370800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:125365200-125376200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:125365600-125370200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:125366800-125372800	Weak transcription	Brain Germinal Matrix	brain
13	chr8:125367000-125370200	Weak transcription	Left Ventricle	heart
14	chr8:125367000-125370200	Weak transcription	Pancreas	Pancrea
15	chr8:125367000-125370600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:125367000-125370600	Weak transcription	Right Atrium	heart
17	chr8:125367000-125370600	Weak transcription	Right Ventricle	heart
18	chr8:125367000-125370600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:125367000-125370800	Weak transcription	Gastric	stomach
20	chr8:125367000-125378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:125367000-125380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:125367200-125371200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:125367200-125376200	Weak transcription	Primary T cells from cord blood	blood
24	chr8:125367200-125382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:125367400-125370400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:125367400-125370800	Enhancers	A549	lung
27	chr8:125367600-125370600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:125367800-125370800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:125368200-125370800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:125368400-125372600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:125368400-125376400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:125368600-125370600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:125368600-125376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:125368600-125376200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:125368600-125376400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:125368600-125376400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:125368800-125370600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:125368800-125376200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:125369000-125370800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:125369000-125370800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:125369200-125370200	Weak transcription	Psoas Muscle	Psoas
42	chr8:125369200-125376200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:125369400-125370200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:125369400-125370600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:125369400-125370600	Weak transcription	Fetal Heart	heart
46	chr8:125369400-125370800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:125369400-125370800	Weak transcription	NHDF-Ad	bronchial
48	chr8:125369400-125371200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr8:125369400-125376200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:125369400-125376200	Weak transcription	Hela-S3	cervix

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