Variant report

Variant	rs7648995
Chromosome Location	chr3:49438803-49438804
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	chr3:49438129..49440566-chr3:49446328..49448559,2	K562	blood:
2	chr3:49433634..49436647-chr3:49437237..49441017,4	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1009051	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10154992	1.00[ASN][1000 genomes]
rs10155014	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10452032	1.00[ASN][1000 genomes]
rs1078341	1.00[ASN][1000 genomes]
rs10865956	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106620	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11130183	1.00[ASN][1000 genomes]
rs11130186	1.00[ASN][1000 genomes]
rs11130187	1.00[ASN][1000 genomes]
rs11130190	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130207	1.00[ASN][1000 genomes]
rs11130208	1.00[ASN][1000 genomes]
rs11710434	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715060	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11719762	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11720542	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720657	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923032	0.83[AMR][1000 genomes]
rs11928090	0.82[EUR][1000 genomes]
rs12583	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12637313	1.00[ASN][1000 genomes]
rs13084037	1.00[ASN][1000 genomes]
rs13096474	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13096480	1.00[ASN][1000 genomes]
rs13322887	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463728	1.00[ASN][1000 genomes]
rs1464569	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1532204	1.00[ASN][1000 genomes]
rs1586827	1.00[ASN][1000 genomes]
rs1982861	0.82[EUR][1000 genomes]
rs2029591	1.00[ASN][1000 genomes]
rs2082923	1.00[ASN][1000 genomes]
rs2099526	1.00[ASN][1000 genomes]
rs2131108	1.00[ASN][1000 genomes]
rs2140270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2312462	0.82[EUR][1000 genomes]
rs2329021	1.00[ASN][1000 genomes]
rs2329025	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3020779	1.00[ASN][1000 genomes]
rs3448	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35713889	1.00[ASN][1000 genomes]
rs3866330	0.82[EUR][1000 genomes]
rs3870339	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3870341	0.82[EUR][1000 genomes]
rs3905330	0.85[EUR][1000 genomes]
rs4052546	0.83[EUR][1000 genomes]
rs4241405	1.00[ASN][1000 genomes]
rs4241407	0.82[EUR][1000 genomes]
rs4384984	1.00[ASN][1000 genomes]
rs4855845	1.00[ASN][1000 genomes]
rs4855846	1.00[ASN][1000 genomes]
rs4855848	1.00[ASN][1000 genomes]
rs4855849	1.00[ASN][1000 genomes]
rs4855853	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855858	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4855869	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4855885	1.00[ASN][1000 genomes]
rs4955413	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4955414	1.00[ASN][1000 genomes]
rs4955421	1.00[ASN][1000 genomes]
rs4955423	1.00[ASN][1000 genomes]
rs4955424	0.90[EUR][1000 genomes]
rs4955425	0.89[EUR][1000 genomes]
rs4955427	1.00[ASN][1000 genomes]
rs4955430	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955439	1.00[ASN][1000 genomes]
rs4955443	1.00[ASN][1000 genomes]
rs56127630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57273516	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62259933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62259943	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62259944	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62259947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62261183	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62261249	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262672	1.00[ASN][1000 genomes]
rs62262673	1.00[ASN][1000 genomes]
rs62262675	1.00[ASN][1000 genomes]
rs6446256	1.00[ASN][1000 genomes]
rs6446257	1.00[ASN][1000 genomes]
rs6446262	0.93[EUR][1000 genomes]
rs6446275	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446285	1.00[ASN][1000 genomes]
rs6446286	1.00[ASN][1000 genomes]
rs6769744	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6769821	1.00[ASN][1000 genomes]
rs6775069	0.91[EUR][1000 genomes]
rs6778080	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6783003	0.87[EUR][1000 genomes]
rs6784203	0.90[EUR][1000 genomes]
rs6785045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790105	0.82[EUR][1000 genomes]
rs6796147	0.89[EUR][1000 genomes]
rs6797299	1.00[ASN][1000 genomes]
rs6805609	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6808036	1.00[ASN][1000 genomes]
rs6809204	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72934271	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088137	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355800	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7374731	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7429661	1.00[ASN][1000 genomes]
rs7613491	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617480	1.00[ASN][1000 genomes]
rs7619016	1.00[ASN][1000 genomes]
rs7619789	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7620024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7622786	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7626076	1.00[ASN][1000 genomes]
rs7631586	1.00[ASN][1000 genomes]
rs7638750	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7644148	0.84[EUR][1000 genomes]
rs7647973	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651372	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940045	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9586	1.00[ASN][1000 genomes]
rs9654010	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs974495	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9757181	0.84[EUR][1000 genomes]
rs9809237	0.85[EUR][1000 genomes]
rs9812360	0.86[EUR][1000 genomes]
rs9817807	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9824435	1.00[ASN][1000 genomes]
rs9830730	1.00[ASN][1000 genomes]
rs9831648	1.00[ASN][1000 genomes]
rs9834003	1.00[ASN][1000 genomes]
rs9842132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9860055	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9860285	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9861027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9862534	0.82[EUR][1000 genomes]
rs9867285	1.00[ASN][1000 genomes]
rs9871024	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881860	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883000	1.00[ASN][1000 genomes]

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs7648995	AMT	cis	lung	GTEx
rs7648995	AMT	cis	Nerve Tibial	GTEx
rs7648995	AMT	Cis_1M	lymphoblastoid	RTeQTL
rs7648995	WDR6	cis	Esophagus Muscularis	GTEx
rs7648995	AMT	cis	Esophagus Muscularis	GTEx
rs7648995	AMT	cis	Adipose Subcutaneous	GTEx
rs7648995	AMT	cis	Artery Aorta	GTEx
rs7648995	NICN1	cis	Thyroid	GTEx
rs7648995	AMT	cis	Skin Sun Exposed Lower leg	GTEx
rs7648995	NICN1-AS1	cis	Thyroid	GTEx
rs7648995	WDR6	cis	Nerve Tibial	GTEx
rs7648995	WDR6	cis	Muscle Skeletal	GTEx
rs7648995	AMT	cis	Muscle Skeletal	GTEx
rs7648995	AMT	cis	Whole Blood	GTEx
rs7648995	AMT	cis	Thyroid	GTEx
rs7648995	AMT	cis	Artery Tibial	GTEx
rs7648995	AMT	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49399000-49448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49406000-49445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:49413200-49441400	Weak transcription	Aorta	Aorta
4	chr3:49413200-49443000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:49413200-49447400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:49413400-49439000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:49413600-49441000	Weak transcription	Fetal Brain Female	brain
8	chr3:49422200-49443000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:49424200-49443400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:49426000-49444000	Weak transcription	Esophagus	oesophagus
11	chr3:49426200-49443000	Weak transcription	NHLF	lung
12	chr3:49427000-49448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:49429000-49441800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:49429000-49447200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:49430800-49439200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:49431200-49447200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:49431800-49439600	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr3:49433800-49444000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:49433800-49447200	Weak transcription	Colonic Mucosa	Colon
20	chr3:49434200-49439400	Weak transcription	Fetal Lung	lung
21	chr3:49434200-49440800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:49434200-49442800	Weak transcription	Brain Germinal Matrix	brain
23	chr3:49434600-49440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:49434800-49439000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:49434800-49439000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:49434800-49441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:49434800-49443000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:49435200-49439000	Weak transcription	Brain Anterior Caudate	brain
29	chr3:49435400-49439200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:49435400-49441200	Weak transcription	Stomach Mucosa	stomach
31	chr3:49435400-49442400	Strong transcription	Fetal Intestine Small	intestine
32	chr3:49435400-49445600	Weak transcription	Fetal Brain Male	brain
33	chr3:49435400-49447000	Weak transcription	HSMMtube	muscle
34	chr3:49435400-49447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:49435600-49439200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:49435600-49439200	Weak transcription	Fetal Heart	heart
37	chr3:49435600-49439600	Weak transcription	HUVEC	blood vessel
38	chr3:49435600-49443000	Weak transcription	NHDF-Ad	bronchial
39	chr3:49435600-49443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:49435800-49439200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr3:49435800-49439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:49435800-49443000	Weak transcription	Small Intestine	intestine
43	chr3:49435800-49446800	Weak transcription	Brain Angular Gyrus	brain
44	chr3:49436000-49439000	Weak transcription	Hela-S3	cervix
45	chr3:49436000-49439000	Weak transcription	HSMM	muscle
46	chr3:49436000-49439200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:49436000-49440400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr3:49436200-49439000	Enhancers	Primary B cells from cord blood	blood
49	chr3:49436400-49439400	Enhancers	Spleen	Spleen
50	chr3:49436600-49439400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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