Variant report

Variant	rs72674611
Chromosome Location	chr8:100418082-100418083
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100415595..100418351-chr8:100620634..100623512,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1011534	0.83[ASN][1000 genomes]
rs1021415	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504988	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504990	0.91[ASN][1000 genomes]
rs10504991	0.91[ASN][1000 genomes]
rs10504992	0.80[ASN][1000 genomes]
rs11984531	0.83[ASN][1000 genomes]
rs11985286	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986138	0.83[ASN][1000 genomes]
rs11986652	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11988133	0.91[ASN][1000 genomes]
rs11989095	0.82[EUR][1000 genomes]
rs11989163	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989337	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989649	0.80[ASN][1000 genomes]
rs11990072	0.88[ASN][1000 genomes]
rs11990603	0.80[ASN][1000 genomes]
rs11990888	0.89[EUR][1000 genomes]
rs11991039	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11992424	0.91[ASN][1000 genomes]
rs11994445	0.88[ASN][1000 genomes]
rs11994623	0.80[ASN][1000 genomes]
rs11995289	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11995956	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897255	0.88[ASN][1000 genomes]
rs16897302	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897325	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897326	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897410	0.80[ASN][1000 genomes]
rs16897439	0.80[ASN][1000 genomes]
rs34064887	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930351	0.83[ASN][1000 genomes]
rs4734429	0.88[ASN][1000 genomes]
rs4735605	0.89[EUR][1000 genomes]
rs4735606	0.81[AFR][1000 genomes]
rs4735608	0.88[ASN][1000 genomes]
rs4735611	0.88[ASN][1000 genomes]
rs4735612	0.94[ASN][1000 genomes]
rs6982694	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987040	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7008629	1.00[ASN][1000 genomes]
rs7008833	1.00[ASN][1000 genomes]
rs72672316	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72672328	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672329	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672337	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672342	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672349	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672353	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672355	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672374	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72672378	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72674605	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674607	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674616	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674626	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7387700	1.00[ASN][1000 genomes]
rs7462943	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818738	0.89[EUR][1000 genomes]
rs7832595	0.82[EUR][1000 genomes]
rs7832916	0.80[ASN][1000 genomes]
rs7833256	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv933677	chr8:100254133-100455039	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv831407	chr8:100284406-100448725	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1031100	chr8:100290887-100508952	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv539697	chr8:100290887-100508952	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv529685	chr8:100290888-100463947	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
17	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
19	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
20	nsv1015966	chr8:100387076-100481107	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
22	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
23	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100384400-100437600	Weak transcription	Lung	lung
2	chr8:100386000-100428800	Weak transcription	Esophagus	oesophagus
3	chr8:100389800-100418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:100390000-100421200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:100390400-100421200	Weak transcription	Aorta	Aorta
6	chr8:100391000-100428000	Weak transcription	Pancreas	Pancrea
7	chr8:100391400-100419800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:100391400-100430200	Weak transcription	Brain Angular Gyrus	brain
9	chr8:100393600-100445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:100393800-100419000	Weak transcription	Fetal Kidney	kidney
11	chr8:100394000-100420000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:100394000-100420200	Weak transcription	Fetal Intestine Large	intestine
13	chr8:100394600-100419000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:100395400-100420200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:100395400-100432600	Weak transcription	Psoas Muscle	Psoas
16	chr8:100395600-100421000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:100396200-100430000	Weak transcription	HSMMtube	muscle
18	chr8:100397000-100420800	Weak transcription	Adipose Nuclei	Adipose
19	chr8:100397200-100420400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:100397400-100424000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:100397800-100445000	Weak transcription	HSMM	muscle
22	chr8:100399800-100419800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:100399800-100445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:100399800-100498400	Weak transcription	Thymus	Thymus
25	chr8:100403200-100424600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:100404200-100418200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:100404400-100418600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:100404400-100420000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:100404400-100420200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:100404400-100420200	Weak transcription	Liver	Liver
31	chr8:100404400-100420400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:100404400-100420600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:100404400-100420600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:100404400-100420800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:100404400-100421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:100404400-100424600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr8:100404400-100427600	Weak transcription	Dnd41	blood
38	chr8:100404400-100427800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:100404400-100428800	Weak transcription	Left Ventricle	heart
40	chr8:100404400-100430800	Weak transcription	Ovary	ovary
41	chr8:100404400-100441800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:100404400-100444600	Weak transcription	Placenta	Placenta
43	chr8:100404600-100423600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:100404800-100424800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:100405000-100418600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr8:100409000-100423000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:100410400-100422400	Weak transcription	Primary B cells from cord blood	blood
48	chr8:100410800-100423800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:100411000-100418800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:100415000-100420000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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