Variant report

Variant	rs17450856
Chromosome Location	chr8:118909959-118909960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10105797	0.80[ASN][1000 genomes]
rs10106675	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125103	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11774623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776292	0.80[ASN][1000 genomes]
rs11776458	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11777220	0.89[ASN][1000 genomes]
rs11777874	0.99[ASN][1000 genomes]
rs11780699	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11781153	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11781245	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11783359	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11784409	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11784466	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12682332	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252084	0.90[EUR][1000 genomes]
rs1462985	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1542519	0.87[ASN][1000 genomes]
rs17430540	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17430610	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450835	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17450863	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450876	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452966	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453043	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17475190	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17479600	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2447535	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2447536	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2447537	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2447538	0.85[ASN][1000 genomes]
rs2447539	0.86[ASN][1000 genomes]
rs2447540	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2447541	0.86[ASN][1000 genomes]
rs2514719	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2514720	0.86[ASN][1000 genomes]
rs28357271	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28357275	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28357276	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28357277	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3101574	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4298514	0.86[EUR][1000 genomes]
rs4391466	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4475517	0.90[EUR][1000 genomes]
rs4480148	0.90[EUR][1000 genomes]
rs4541958	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4602926	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4621831	0.90[EUR][1000 genomes]
rs4644291	0.86[EUR][1000 genomes]
rs4876777	0.83[ASN][1000 genomes]
rs5005135	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56748438	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62521139	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62521140	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62521141	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469716	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469718	0.86[EUR][1000 genomes]
rs6982505	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6985552	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6999044	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007735	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7012890	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820452	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822297	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824327	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824391	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824395	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824651	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7836747	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840309	0.83[ASN][1000 genomes]
rs7842917	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7843515	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs958381	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9656923	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9656925	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
2	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
4	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:118904000-118910600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:118904400-118912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:118905200-118911200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:118905200-118912200	Enhancers	Fetal Lung	lung
9	chr8:118905600-118914400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:118905800-118911200	Enhancers	Aorta	Aorta
11	chr8:118905800-118911600	Weak transcription	Fetal Brain Male	brain
12	chr8:118906000-118910400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:118906000-118911600	Weak transcription	Fetal Brain Female	brain
14	chr8:118906000-118912200	Weak transcription	Gastric	stomach
15	chr8:118906000-118917600	Enhancers	NHLF	lung
16	chr8:118906600-118915000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:118907200-118915000	Weak transcription	Adipose Nuclei	Adipose
18	chr8:118907400-118910400	Enhancers	Colon Smooth Muscle	Colon
19	chr8:118907400-118910400	Weak transcription	NH-A	brain
20	chr8:118907400-118914600	Weak transcription	HSMM	muscle
21	chr8:118907800-118910400	Enhancers	Fetal Heart	heart
22	chr8:118908000-118910000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:118908000-118910000	Enhancers	Left Ventricle	heart
24	chr8:118908000-118918200	Weak transcription	HSMMtube	muscle
25	chr8:118908200-118910000	Enhancers	HMEC	breast
26	chr8:118908200-118910600	Weak transcription	HUVEC	blood vessel
27	chr8:118908200-118911800	Enhancers	NHEK	skin
28	chr8:118908200-118913200	Enhancers	Fetal Stomach	stomach
29	chr8:118908200-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:118908600-118910000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:118908800-118910600	Enhancers	Right Atrium	heart
32	chr8:118908800-118911400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:118908800-118925800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:118909000-118910000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:118909000-118910000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:118909000-118910600	Weak transcription	Fetal Intestine Large	intestine
37	chr8:118909000-118910800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:118909000-118912200	Weak transcription	Lung	lung
39	chr8:118909200-118910600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:118909400-118910000	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:118909400-118910600	Enhancers	Brain Substantia Nigra	brain
42	chr8:118909400-118913400	Weak transcription	A549	lung
43	chr8:118909600-118910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:118909600-118910400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:118909600-118910600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:118909600-118910600	Weak transcription	Stomach Mucosa	stomach
47	chr8:118909600-118911600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:118909600-118911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:118909600-118911600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:118909600-118911800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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