Variant report

Variant	rs10193894
Chromosome Location	chr2:171595630-171595631
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171593069..171595980-chr2:171599016..171601460,4	K562	blood:
2	chr2:171594157..171598805-chr2:171599016..171605066,9	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10179149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184230	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10185519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460355	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10460356	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930437	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11684810	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12472667	0.93[ASN][1000 genomes]
rs12611849	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12614245	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12618173	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12990209	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12994080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13009323	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13014069	0.84[ASN][1000 genomes]
rs13015956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362487	0.91[ASN][1000 genomes]
rs1362491	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1420377	0.93[ASN][1000 genomes]
rs1420382	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1420384	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477060	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17694506	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17750734	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861463	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894917	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058726	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2216135	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2287109	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2883885	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28863322	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28892917	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35294186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4233832	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667649	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667650	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4667651	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4667652	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4667658	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4668302	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4668303	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4668304	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4668305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4668306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4668312	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668313	0.83[ASN][1000 genomes]
rs4668314	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4668317	0.90[ASN][1000 genomes]
rs5003926	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5003927	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55806232	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58691943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433236	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433237	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433239	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433240	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6433243	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6433245	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66624589	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717778	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6717785	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6726174	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6727988	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732964	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6741549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6746220	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6746374	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6751667	0.91[ASN][1000 genomes]
rs6751987	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6756891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556674	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563812	0.89[ASN][1000 genomes]
rs7572599	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7582102	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7582425	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7595158	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608898	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs959464	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs959465	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10193894	AC007405.4	cis	Stomach	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171574000-171620800	Weak transcription	Pancreas	Pancrea
2	chr2:171593200-171598000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:171593600-171600800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:171594000-171597200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:171594000-171600200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:171594200-171596800	Enhancers	Stomach Mucosa	stomach
7	chr2:171594200-171597600	Enhancers	HMEC	breast
8	chr2:171594400-171596400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:171594400-171596400	Enhancers	HSMM	muscle
10	chr2:171594400-171596600	Enhancers	Fetal Intestine Small	intestine
11	chr2:171594400-171597400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:171594600-171596600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:171595000-171597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:171595200-171595800	Enhancers	Placenta	Placenta
15	chr2:171595200-171596400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:171595200-171596400	Enhancers	NH-A	brain
17	chr2:171595200-171596400	Enhancers	NHDF-Ad	bronchial
18	chr2:171595200-171596400	Enhancers	Osteobl	bone
19	chr2:171595200-171596600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:171595200-171596800	Enhancers	Fetal Intestine Large	intestine
21	chr2:171595200-171600200	Weak transcription	Gastric	stomach
22	chr2:171595400-171596000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:171595400-171596200	Enhancers	HSMMtube	muscle
24	chr2:171595600-171595800	Enhancers	NHEK	skin
25	chr2:171595600-171596000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:171595600-171596000	Flanking Active TSS	A549	lung
27	chr2:171595600-171596000	Enhancers	HepG2	liver

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