Variant report

Variant	rs17507693
Chromosome Location	chr15:83793622-83793623
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:83793552-83793986	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83792605..83795523-chr15:83796905..83798745,3	MCF-7	breast:

Variant related genes	Relation type
TM6SF1	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:178)

rs_ID	r²[population]
rs10520576	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1075619	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1112404	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11259903	0.92[ASN][1000 genomes]
rs11259905	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11259906	0.86[ASN][1000 genomes]
rs11259965	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11259967	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11259968	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11259969	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11259970	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852287	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11852408	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852446	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852496	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11853498	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11853742	0.83[ASN][1000 genomes]
rs11853977	0.85[ASN][1000 genomes]
rs11854520	0.86[ASN][1000 genomes]
rs11854888	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11855639	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11856000	0.92[ASN][1000 genomes]
rs11856164	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11856171	0.97[ASN][1000 genomes]
rs11856806	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11857428	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11857641	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11857878	0.83[ASN][1000 genomes]
rs11858162	0.85[EUR][1000 genomes]
rs11858377	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11858468	0.84[EUR][1000 genomes]
rs12437558	0.85[EUR][1000 genomes]
rs12437858	0.84[EUR][1000 genomes]
rs12437901	0.85[EUR][1000 genomes]
rs12438398	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438526	0.81[EUR][1000 genomes]
rs12438575	0.85[EUR][1000 genomes]
rs12438708	0.81[EUR][1000 genomes]
rs12439122	0.83[EUR][1000 genomes]
rs12439903	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440265	0.85[EUR][1000 genomes]
rs12440386	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440562	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12441006	0.85[EUR][1000 genomes]
rs12441409	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12441575	0.85[EUR][1000 genomes]
rs12441585	1.00[ASN][1000 genomes]
rs12441847	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442572	0.92[ASN][1000 genomes]
rs12443109	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12443424	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591855	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593316	0.80[ASN][1000 genomes]
rs12593532	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593638	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12594496	0.96[ASN][1000 genomes]
rs12595330	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17158080	1.00[ASN][1000 genomes]
rs17361375	0.85[EUR][1000 genomes]
rs17507763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17508610	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17509233	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17567151	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17567869	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17568298	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17568459	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1880532	0.81[EUR][1000 genomes]
rs1901544	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2034617	1.00[ASN][1000 genomes]
rs2034618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084839	0.80[ASN][1000 genomes]
rs2167600	0.84[ASN][1000 genomes]
rs28373753	0.97[ASN][1000 genomes]
rs28436027	0.94[ASN][1000 genomes]
rs28538218	0.84[ASN][1000 genomes]
rs28623260	0.97[ASN][1000 genomes]
rs28625676	0.92[ASN][1000 genomes]
rs28678434	0.84[ASN][1000 genomes]
rs28754750	1.00[ASN][1000 genomes]
rs4300612	0.81[AMR][1000 genomes]
rs4341707	0.84[ASN][1000 genomes]
rs4386103	0.84[ASN][1000 genomes]
rs4389108	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4408505	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4423388	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4480763	0.85[EUR][1000 genomes]
rs4531702	0.84[ASN][1000 genomes]
rs4547301	0.81[AMR][1000 genomes]
rs4563011	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4572349	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55683536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55756182	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55878453	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55893521	0.83[EUR][1000 genomes]
rs55905779	0.81[EUR][1000 genomes]
rs55932429	0.81[EUR][1000 genomes]
rs56045305	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56052029	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56352317	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56391827	0.93[ASN][1000 genomes]
rs57219675	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57729044	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58006707	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58281154	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58292616	0.96[ASN][1000 genomes]
rs58329615	0.86[ASN][1000 genomes]
rs58847484	0.80[EUR][1000 genomes]
rs59896565	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60344060	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60819629	0.85[EUR][1000 genomes]
rs60935326	0.99[ASN][1000 genomes]
rs61267530	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61323939	0.93[ASN][1000 genomes]
rs62010162	0.84[EUR][1000 genomes]
rs62010164	0.85[EUR][1000 genomes]
rs62010165	0.85[EUR][1000 genomes]
rs62010166	0.85[EUR][1000 genomes]
rs62010170	0.83[EUR][1000 genomes]
rs62010172	0.81[EUR][1000 genomes]
rs62010173	0.85[EUR][1000 genomes]
rs62010174	0.84[EUR][1000 genomes]
rs62010175	0.85[EUR][1000 genomes]
rs62010177	0.84[EUR][1000 genomes]
rs62010212	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010214	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62010215	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62010220	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010248	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62010252	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010254	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62010255	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62010258	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62011869	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62025861	0.81[AMR][1000 genomes]
rs62025914	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62025915	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62025919	0.81[EUR][1000 genomes]
rs62025921	0.81[EUR][1000 genomes]
rs6602970	0.86[ASN][1000 genomes]
rs6603047	0.99[ASN][1000 genomes]
rs66603627	0.85[ASN][1000 genomes]
rs66619192	0.85[EUR][1000 genomes]
rs66757932	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66982382	0.85[ASN][1000 genomes]
rs67933024	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7164083	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7165114	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7165978	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7172590	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7173166	0.86[ASN][1000 genomes]
rs7179675	0.81[EUR][1000 genomes]
rs7180407	0.86[ASN][1000 genomes]
rs7180692	0.83[EUR][1000 genomes]
rs72755992	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73437314	0.96[ASN][1000 genomes]
rs73437324	0.96[ASN][1000 genomes]
rs73437329	0.96[ASN][1000 genomes]
rs73437330	0.96[ASN][1000 genomes]
rs73438913	0.90[ASN][1000 genomes]
rs73438921	0.84[ASN][1000 genomes]
rs73438937	0.85[ASN][1000 genomes]
rs73438941	0.85[ASN][1000 genomes]
rs73438962	0.85[ASN][1000 genomes]
rs73455410	0.99[ASN][1000 genomes]
rs73455413	0.99[ASN][1000 genomes]
rs73455451	0.96[ASN][1000 genomes]
rs7495630	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7495911	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8027193	0.92[ASN][1000 genomes]
rs8027577	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031723	0.85[EUR][1000 genomes]
rs8035810	1.00[ASN][1000 genomes]
rs8037783	0.99[ASN][1000 genomes]
rs8038486	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8043224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965263	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs965264	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9707895	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534418	chr15:83770116-83960718	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83777200-83798400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr15:83777200-83834600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:83777800-83798800	Weak transcription	HSMMtube	muscle
4	chr15:83778200-83801600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr15:83778200-83806400	Weak transcription	Dnd41	blood
6	chr15:83778600-83797600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:83778800-83799000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:83779400-83812800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:83780000-83810000	Weak transcription	Fetal Lung	lung
10	chr15:83780600-83798600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:83781000-83808200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:83781000-83808200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:83781200-83827200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:83781400-83809800	Weak transcription	Brain Substantia Nigra	brain
15	chr15:83782000-83798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:83782000-83798400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:83782000-83825000	Weak transcription	Psoas Muscle	Psoas
18	chr15:83782200-83798400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:83782200-83812400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:83782400-83798600	Weak transcription	Placenta	Placenta
21	chr15:83782400-83803600	Weak transcription	Brain Anterior Caudate	brain
22	chr15:83782600-83798400	Weak transcription	Spleen	Spleen
23	chr15:83782600-83833600	Weak transcription	Right Ventricle	heart
24	chr15:83783000-83794800	Weak transcription	HSMM	muscle
25	chr15:83783200-83798200	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:83783200-83798400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:83783200-83812400	Weak transcription	Brain Angular Gyrus	brain
28	chr15:83783200-83812800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:83783400-83798400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:83783400-83812800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:83783600-83794800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:83783800-83832400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:83784400-83798400	Weak transcription	Fetal Stomach	stomach
34	chr15:83784400-83798800	Weak transcription	Fetal Brain Female	brain
35	chr15:83784600-83796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:83784600-83798400	Weak transcription	Brain Germinal Matrix	brain
37	chr15:83784800-83798200	Weak transcription	Aorta	Aorta
38	chr15:83787000-83812200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:83788600-83800800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:83788600-83815000	Weak transcription	Pancreas	Pancrea
41	chr15:83789000-83798400	Weak transcription	Lung	lung
42	chr15:83789200-83794600	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:83789200-83798600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:83789600-83798000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:83789600-83798200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:83790000-83806400	Weak transcription	Fetal Kidney	kidney
47	chr15:83790200-83794400	Strong transcription	HUVEC	blood vessel
48	chr15:83790400-83795400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr15:83790400-83803600	Weak transcription	Colon Smooth Muscle	Colon
50	chr15:83790400-83804600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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