Variant report

Variant	rs4735634
Chromosome Location	chr8:100711496-100711497
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	chr8:100707994..100711279-chr8:100711487..100714977,4	K562	blood:

Variant related genes	Relation type
ENSG00000235683	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10504990	0.88[EUR][1000 genomes]
rs10504991	0.88[EUR][1000 genomes]
rs10504992	0.88[EUR][1000 genomes]
rs11984855	0.82[EUR][1000 genomes]
rs11987013	0.88[EUR][1000 genomes]
rs11987034	0.88[EUR][1000 genomes]
rs11988133	0.88[EUR][1000 genomes]
rs11989649	0.85[EUR][1000 genomes]
rs11992778	0.88[EUR][1000 genomes]
rs11994623	0.88[EUR][1000 genomes]
rs11996543	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1349244	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1349245	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1449786	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449790	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1449791	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552443	0.88[EUR][1000 genomes]
rs16897410	0.88[EUR][1000 genomes]
rs16897439	0.88[EUR][1000 genomes]
rs16897488	0.88[EUR][1000 genomes]
rs16897504	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16897573	0.97[ASN][1000 genomes]
rs16897581	0.92[ASN][1000 genomes]
rs16897656	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897662	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897666	1.00[EUR][1000 genomes]
rs16897685	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897701	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897702	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897708	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897713	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897726	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16897728	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17331148	1.00[EUR][1000 genomes]
rs1979115	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979117	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2067529	0.85[EUR][1000 genomes]
rs2084554	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084555	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2100220	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122341	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2167101	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28372694	0.82[EUR][1000 genomes]
rs2871953	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28847009	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4288349	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4342557	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4531021	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4734434	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4734435	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734437	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734438	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4734439	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735616	0.88[EUR][1000 genomes]
rs4735622	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735623	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735624	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735631	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735632	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735633	0.92[ASN][1000 genomes]
rs4735635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735636	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735637	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735638	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735642	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735644	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735645	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735646	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56912854	0.94[AMR][1000 genomes]
rs57753543	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61753724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003135	0.97[EUR][1000 genomes]
rs73271394	0.94[EUR][1000 genomes]
rs73273207	0.97[EUR][1000 genomes]
rs7387462	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7832916	0.88[EUR][1000 genomes]
rs7833256	0.88[EUR][1000 genomes]
rs7833870	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841162	0.82[EUR][1000 genomes]
rs921313	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
11	nsv523290	chr8:100708595-100717925	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100687000-100739800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100688800-100716000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:100692000-100711800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:100698000-100716000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:100698200-100714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:100698400-100714600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:100698600-100711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:100699000-100718000	Weak transcription	K562	blood
9	chr8:100699400-100711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:100699400-100712000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:100699400-100712400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:100699400-100714400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:100699600-100714600	Weak transcription	Ovary	ovary
14	chr8:100699800-100731600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:100699800-100733200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:100700000-100712600	Weak transcription	Gastric	stomach
17	chr8:100700000-100714600	Weak transcription	Aorta	Aorta
18	chr8:100700000-100714800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:100700000-100716000	Weak transcription	Adipose Nuclei	Adipose
20	chr8:100700400-100733800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:100703600-100711800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:100703800-100712600	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:100707600-100712000	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:100707600-100712600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:100707600-100732400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:100708400-100725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:100709200-100716000	Weak transcription	Esophagus	oesophagus
28	chr8:100709400-100716200	Weak transcription	Fetal Intestine Small	intestine
29	chr8:100709600-100712200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr8:100709600-100713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:100709600-100714600	Weak transcription	HSMMtube	muscle
32	chr8:100709600-100715000	Weak transcription	Fetal Intestine Large	intestine
33	chr8:100709800-100712600	Weak transcription	Fetal Stomach	stomach
34	chr8:100710000-100712400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:100710000-100716600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:100710000-100717000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:100710200-100714600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:100710200-100739800	Weak transcription	Psoas Muscle	Psoas
39	chr8:100710200-100785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:100710400-100712000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:100710400-100714800	Weak transcription	GM12878-XiMat	blood
42	chr8:100710600-100717200	Weak transcription	Liver	Liver
43	chr8:100710800-100713200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:100710800-100714400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:100711000-100713000	Enhancers	HMEC	breast
46	chr8:100711000-100717800	Weak transcription	NH-A	brain
47	chr8:100711200-100713200	Enhancers	NHEK	skin
48	chr8:100711200-100714600	Enhancers	Primary T cells from cord blood	blood
49	chr8:100711400-100711600	ZNF genes & repeats	Pancreas	Pancrea
50	chr8:100711400-100711600	Enhancers	Right Atrium	heart

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