Variant report

Variant	rs17450835
Chromosome Location	chr8:118905711-118905712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10097196	0.80[JPT][hapmap]
rs10106675	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808489	0.81[JPT][hapmap]
rs10955846	0.81[JPT][hapmap]
rs1125103	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11774623	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11776292	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs11776458	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11777220	0.87[ASN][1000 genomes]
rs11777874	0.96[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs11780699	0.84[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11781153	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11781245	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11783359	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11784409	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11784466	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11785986	0.86[CHB][hapmap]
rs11986974	0.82[CHB][hapmap]
rs12678309	0.83[CHB][hapmap]
rs12682332	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682480	0.87[CHB][hapmap]
rs13252084	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs13260665	0.81[JPT][hapmap]
rs1462985	0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1542519	0.83[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1564132	0.81[JPT][hapmap]
rs17430540	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17430610	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17450723	0.87[CHB][hapmap]
rs17450758	0.86[CHB][hapmap]
rs17450856	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17450863	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17450876	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17452966	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17453043	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17475190	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17479600	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17503934	0.83[CHB][hapmap]
rs2325820	0.80[JPT][hapmap]
rs2447535	0.87[CHB][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2447536	0.83[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2447537	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2447538	0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2447539	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2447540	0.83[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2447541	0.83[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2514719	0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2514720	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs28357271	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28357275	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28357276	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28357277	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3101574	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4298514	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs4391466	0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4475517	0.91[EUR][1000 genomes]
rs4480148	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs4541958	0.87[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4602926	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4621831	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs4644291	0.84[EUR][1000 genomes]
rs4876777	0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs5005135	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56748438	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62521139	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521140	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521141	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469716	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469718	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs6982505	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6985552	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6997503	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs6999044	0.96[CEU][hapmap];0.96[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012890	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818831	0.81[JPT][hapmap]
rs7820452	1.00[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822297	0.96[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824327	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824391	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824395	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824651	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7830840	0.82[CHB][hapmap]
rs7836747	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840309	0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7842917	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7843515	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs958381	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9656923	0.96[CEU][hapmap];0.96[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9656925	0.96[CEU][hapmap];0.96[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
3	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
6	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:118897600-118908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:118899000-118907000	Weak transcription	HUVEC	blood vessel
10	chr8:118900200-118907800	Weak transcription	Primary T cells from cord blood	blood
11	chr8:118901600-118905800	Weak transcription	Aorta	Aorta
12	chr8:118901600-118908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:118901600-118908800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:118901600-118909200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:118901800-118908600	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:118902600-118906200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:118902800-118906400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:118903400-118907000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:118903400-118907400	Enhancers	Fetal Heart	heart
20	chr8:118903800-118905800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:118903800-118906000	Genic enhancers	NHLF	lung
22	chr8:118903800-118907400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:118903800-118907600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:118904000-118910600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:118904200-118905800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:118904200-118907200	Enhancers	Left Ventricle	heart
27	chr8:118904400-118906200	Enhancers	Pancreas	Pancrea
28	chr8:118904400-118906200	Enhancers	Right Atrium	heart
29	chr8:118904400-118906400	Enhancers	Ovary	ovary
30	chr8:118904400-118907400	Enhancers	Right Ventricle	heart
31	chr8:118904400-118907400	Enhancers	NH-A	brain
32	chr8:118904400-118912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:118904600-118905800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:118904600-118908000	Weak transcription	Brain Germinal Matrix	brain
35	chr8:118904800-118906800	Weak transcription	Lung	lung
36	chr8:118904800-118907000	Weak transcription	Liver	Liver
37	chr8:118905000-118905800	Weak transcription	HSMM	muscle
38	chr8:118905000-118906000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:118905000-118906000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:118905000-118906800	Weak transcription	Spleen	Spleen
41	chr8:118905000-118906800	Weak transcription	NHDF-Ad	bronchial
42	chr8:118905000-118907400	Enhancers	Brain Hippocampus Middle	brain
43	chr8:118905200-118905800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:118905200-118906000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:118905200-118906200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:118905200-118906400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:118905200-118908200	Weak transcription	NHEK	skin
48	chr8:118905200-118909000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:118905200-118911200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:118905200-118912200	Enhancers	Fetal Lung	lung

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