Variant report

Variant	rs72711187
Chromosome Location	chr8:125376734-125376735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125375411..125378437-chr8:125382483..125385069,3	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

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]
rs61733521	0.82[ASN][1000 genomes]
rs6470239	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72711182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711193	1.00[AMR][1000 genomes];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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125362800-125382800	Weak transcription	Ovary	ovary
2	chr8:125364400-125378400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:125367000-125378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:125367000-125380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:125367200-125382000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:125371400-125380600	Weak transcription	Fetal Brain Female	brain
7	chr8:125371400-125382800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:125371600-125377000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:125372000-125378200	Weak transcription	Psoas Muscle	Psoas
10	chr8:125372000-125380600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:125372600-125378200	Weak transcription	Left Ventricle	heart
12	chr8:125372600-125380800	Weak transcription	Right Ventricle	heart
13	chr8:125373200-125381000	Weak transcription	Brain Germinal Matrix	brain
14	chr8:125374800-125377600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:125374800-125380600	Weak transcription	Right Atrium	heart
16	chr8:125375600-125380000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:125376200-125376800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:125376200-125377000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:125376200-125377200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:125376200-125377200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:125376200-125377200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:125376200-125377200	Enhancers	Fetal Heart	heart
23	chr8:125376200-125377200	Enhancers	Fetal Kidney	kidney
24	chr8:125376200-125377400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:125376200-125377400	Enhancers	HSMMtube	muscle
26	chr8:125376200-125377600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr8:125376200-125377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125376200-125377800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:125376200-125377800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:125376200-125377800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr8:125376200-125377800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:125376200-125377800	Enhancers	Hela-S3	cervix
33	chr8:125376200-125377800	Enhancers	HSMM	muscle
34	chr8:125376200-125377800	Enhancers	NHDF-Ad	bronchial
35	chr8:125376200-125378200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:125376200-125378400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:125376200-125378600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr8:125376200-125379200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:125376200-125379400	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:125376200-125379600	Enhancers	Primary T cells from cord blood	blood
41	chr8:125376200-125379600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:125376200-125379600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:125376200-125380600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:125376200-125380600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:125376200-125381600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:125376400-125376800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr8:125376400-125376800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:125376400-125376800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr8:125376400-125376800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:125376400-125376800	Enhancers	Rectal Smooth Muscle	rectum

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