Variant report

Variant	rs72711185
Chromosome Location	chr8:125374506-125374507
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	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12056758	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12114111	0.84[EUR][1000 genomes]
rs28864761	0.88[EUR][1000 genomes]
rs28883585	0.88[EUR][1000 genomes]
rs4612323	0.88[EUR][1000 genomes]
rs72711166	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72711168	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72711169	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72711174	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72711202	0.90[EUR][1000 genomes]
rs72713207	0.90[EUR][1000 genomes]
rs7387220	0.87[EUR][1000 genomes]
rs7387895	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7388170	0.82[EUR][1000 genomes]
rs7388224	0.84[EUR][1000 genomes]
rs7829851	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9643193	0.91[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125353000-125376200	Weak transcription	HSMM	muscle
2	chr8:125362800-125382800	Weak transcription	Ovary	ovary
3	chr8:125364400-125376400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:125365200-125376200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:125367000-125378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:125367000-125380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:125367200-125376200	Weak transcription	Primary T cells from cord blood	blood
9	chr8:125367200-125382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:125368400-125376400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:125368600-125376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:125368600-125376200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:125368600-125376400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:125368600-125376400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:125368800-125376200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:125369200-125376200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr8:125369400-125376200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:125369400-125376200	Weak transcription	Hela-S3	cervix
19	chr8:125371000-125376200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:125371200-125376200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:125371200-125376200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:125371200-125376400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr8:125371200-125376400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:125371400-125374600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:125371400-125376200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:125371400-125376200	Weak transcription	HSMMtube	muscle
27	chr8:125371400-125376400	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:125371400-125376400	Weak transcription	Small Intestine	intestine
29	chr8:125371400-125380600	Weak transcription	Fetal Brain Female	brain
30	chr8:125371400-125382800	Weak transcription	Fetal Intestine Large	intestine
31	chr8:125371600-125375000	Weak transcription	A549	lung
32	chr8:125371600-125376200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:125371600-125376200	Weak transcription	NHDF-Ad	bronchial
34	chr8:125371600-125376400	Weak transcription	Adipose Nuclei	Adipose
35	chr8:125371600-125376400	Weak transcription	Fetal Lung	lung
36	chr8:125371600-125377000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:125371800-125376200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:125371800-125376200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:125371800-125376400	Weak transcription	Liver	Liver
40	chr8:125371800-125376400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:125371800-125376400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:125371800-125376400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:125371800-125376400	Weak transcription	HepG2	liver
44	chr8:125372000-125374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:125372000-125376200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:125372000-125376200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:125372000-125376400	Weak transcription	Fetal Intestine Small	intestine
48	chr8:125372000-125378200	Weak transcription	Psoas Muscle	Psoas
49	chr8:125372000-125380600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:125372200-125376400	Weak transcription	Primary hematopoietic stem cells	blood

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