Variant report

Variant	rs72672329
Chromosome Location	chr8:100243225-100243226
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	chr8:100241348..100243532-chr8:101014262..101016207,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1011534	0.89[ASN][1000 genomes]
rs1021415	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10504988	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11984531	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985286	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985354	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11985377	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986138	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986652	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987308	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987800	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11988364	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989082	0.83[ASN][1000 genomes]
rs11989095	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11989163	0.84[EUR][1000 genomes]
rs11989337	0.83[ASN][1000 genomes]
rs11989805	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11990072	0.94[ASN][1000 genomes]
rs11990131	0.83[ASN][1000 genomes]
rs11990603	0.97[ASN][1000 genomes]
rs11990888	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11991039	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11993237	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11994445	0.94[ASN][1000 genomes]
rs11995021	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995289	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995381	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11995956	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11996944	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997079	0.83[ASN][1000 genomes]
rs11997104	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997495	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998168	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998193	0.99[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11998245	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897255	0.94[ASN][1000 genomes]
rs16897302	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897325	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16897326	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34064887	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34930351	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35318343	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35755686	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4501558	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4585717	0.83[ASN][1000 genomes]
rs4734422	0.83[ASN][1000 genomes]
rs4734423	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4734427	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734428	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734429	0.94[ASN][1000 genomes]
rs4735590	0.83[ASN][1000 genomes]
rs4735593	0.83[ASN][1000 genomes]
rs4735594	0.83[ASN][1000 genomes]
rs4735595	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735596	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735598	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735605	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735606	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735608	0.94[ASN][1000 genomes]
rs4735611	0.94[ASN][1000 genomes]
rs4735612	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57231976	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982694	0.83[ASN][1000 genomes]
rs6987040	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7008629	0.83[ASN][1000 genomes]
rs7008833	0.83[ASN][1000 genomes]
rs72672316	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672328	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672342	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672349	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672353	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672355	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672374	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672378	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72674605	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72674607	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72674611	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72674612	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72674616	0.83[ASN][1000 genomes]
rs72674626	0.80[ASN][1000 genomes]
rs7387700	0.83[ASN][1000 genomes]
rs7462943	0.83[ASN][1000 genomes]
rs7814120	0.83[ASN][1000 genomes]
rs7814617	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7818738	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7819606	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7832595	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1031524	chr8:100204139-100399935	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv933080	chr8:100204936-100417432	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv611810	chr8:100208966-100301621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv933386	chr8:100221585-100260998	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv891223	chr8:100232372-100284110	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv891224	chr8:100232372-100336092	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv611811	chr8:100232372-100336447	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv531506	chr8:100242477-100344417	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100164200-100245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:100178800-100245000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:100178800-100245000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:100198400-100245800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:100201400-100245200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:100202200-100243600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:100203800-100245600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:100204200-100248200	Weak transcription	Esophagus	oesophagus
9	chr8:100207000-100245600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr8:100207000-100290400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:100210000-100252400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:100212600-100253000	Weak transcription	Lung	lung
13	chr8:100214800-100244800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:100214800-100252600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:100214800-100293200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:100215000-100246000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:100215800-100248000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:100216800-100252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:100219400-100246200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:100223800-100244200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr8:100223800-100245200	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:100228200-100244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:100230400-100257800	Weak transcription	Aorta	Aorta
24	chr8:100231000-100246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:100231000-100253000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:100231000-100255400	Weak transcription	Right Ventricle	heart
27	chr8:100231200-100245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:100231200-100245800	Weak transcription	Primary B cells from cord blood	blood
29	chr8:100231200-100245800	Weak transcription	Fetal Lung	lung
30	chr8:100231200-100245800	Weak transcription	NHLF	lung
31	chr8:100231200-100246000	Weak transcription	HSMMtube	muscle
32	chr8:100231200-100253000	Weak transcription	Gastric	stomach
33	chr8:100231400-100251200	Weak transcription	Ovary	ovary
34	chr8:100232000-100247600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:100232000-100267400	Weak transcription	Left Ventricle	heart
36	chr8:100234000-100245000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:100234200-100251600	Weak transcription	GM12878-XiMat	blood
38	chr8:100236400-100245000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:100236400-100253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:100236600-100245600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:100236600-100252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:100236800-100246000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:100236800-100253000	Weak transcription	Osteobl	bone
44	chr8:100237400-100245400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:100237600-100245000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:100237800-100246200	Weak transcription	Thymus	Thymus
47	chr8:100240000-100247800	Weak transcription	Placenta	Placenta
48	chr8:100240000-100249800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:100240400-100245200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:100241200-100255400	Weak transcription	Rectal Mucosa Donor 31	rectum

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