Variant report

Variant	rs9282555
Chromosome Location	chr17:67109997-67109998
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	chr17:67105618..67107692-chr17:67108283..67110713,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10491178	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11077946	0.86[EUR][1000 genomes]
rs11656320	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12103556	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12600759	0.97[ASN][1000 genomes]
rs12601012	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12602007	0.83[EUR][1000 genomes]
rs12602396	0.94[ASN][1000 genomes]
rs12602766	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602816	0.85[EUR][1000 genomes]
rs12602962	0.83[EUR][1000 genomes]
rs12604047	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12938420	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12945932	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12948410	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1468514	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16973562	0.94[ASN][1000 genomes]
rs16973622	0.85[EUR][1000 genomes]
rs16973656	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16973672	0.85[ASN][1000 genomes]
rs16973722	0.85[EUR][1000 genomes]
rs16973774	0.81[EUR][1000 genomes]
rs1860120	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1968099	0.85[EUR][1000 genomes]
rs2233767	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2233768	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286419	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302289	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2886048	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35991088	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36145749	0.83[EUR][1000 genomes]
rs3891333	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41496448	0.85[EUR][1000 genomes]
rs4968786	0.85[EUR][1000 genomes]
rs4968787	0.85[EUR][1000 genomes]
rs4968837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968844	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4968853	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4968996	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55821831	0.89[EUR][1000 genomes]
rs57736258	0.83[EUR][1000 genomes]
rs58452744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58761646	0.85[EUR][1000 genomes]
rs6502002	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6502005	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7209351	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7212506	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7212963	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73356149	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs736528	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7501583	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7501929	0.85[EUR][1000 genomes]
rs764178	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8065842	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8067965	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068468	0.83[EUR][1000 genomes]
rs8080508	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8081118	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082114	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282553	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303011	0.83[EUR][1000 genomes]
rs9889289	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9896308	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9904389	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9905622	0.85[EUR][1000 genomes]
rs9909265	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9916644	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr17:67079400-67112200	Strong transcription	Liver	Liver
4	chr17:67079400-67112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
6	chr17:67079600-67114200	Weak transcription	NHDF-Ad	bronchial
7	chr17:67080800-67112000	Weak transcription	Brain Substantia Nigra	brain
8	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
9	chr17:67082200-67114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr17:67087000-67114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:67090400-67110000	Strong transcription	Adipose Nuclei	Adipose
13	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
16	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
17	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
18	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
20	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:67101200-67110000	Weak transcription	Gastric	stomach
22	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
23	chr17:67102000-67111200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:67102600-67111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:67103200-67113400	Strong transcription	Fetal Lung	lung
26	chr17:67104800-67114600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:67106400-67131400	Weak transcription	Left Ventricle	heart
28	chr17:67108000-67117400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:67108400-67110800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr17:67108400-67114200	Weak transcription	Ovary	ovary
31	chr17:67108800-67111200	Weak transcription	Lung	lung
32	chr17:67109400-67112000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:67109400-67114400	Weak transcription	HUVEC	blood vessel
34	chr17:67109600-67110800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr17:67109600-67129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:67109800-67110800	Weak transcription	GM12878-XiMat	blood
37	chr17:67109800-67111000	Weak transcription	Monocytes-CD14+_RO01746	blood

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