Variant report

Variant	rs6785045
Chromosome Location	chr3:49435243-49435244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49376642..49379582-chr3:49433592..49435487,2	K562	blood:
2	chr3:49433634..49436647-chr3:49437237..49441017,4	K562	blood:
3	chr3:49433245..49436928-chr3:49447117..49449989,7	K562	blood:
4	chr3:49435199..49436979-chr3:49506002..49508091,2	K562	blood:
5	chr3:49433629..49436504-chr3:49455215..49456782,2	MCF-7	breast:
6	chr3:49376096..49378167-chr3:49432966..49435817,2	MCF-7	breast:
7	chr3:49433690..49436598-chr3:49447912..49450850,3	K562	blood:
8	chr3:49433997..49436498-chr3:49444708..49446631,2	K562	blood:
9	chr3:49377051..49379136-chr3:49433300..49435440,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145020	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000114316	Chromatin interaction
ENSG00000145022	Chromatin interaction
ENSG00000067560	Chromatin interaction

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]
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]
rs7648995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
rs6785045	AMT	cis	Muscle Skeletal	GTEx
rs6785045	AMT	cis	lung	GTEx
rs6785045	AMT	cis	Skin Sun Exposed Lower leg	GTEx
rs6785045	AMT	cis	Whole Blood	GTEx
rs6785045	AMT	cis	Artery Tibial	GTEx
rs6785045	AMT	cis	Esophagus Muscularis	GTEx
rs6785045	AMT	cis	Nerve Tibial	GTEx
rs6785045	WDR6	cis	Esophagus Muscularis	GTEx
rs6785045	NICN1	cis	Thyroid	GTEx
rs6785045	AMT	cis	Thyroid	GTEx
rs6785045	NICN1-AS1	cis	Thyroid	GTEx
rs6785045	AMT	Cis_1M	lymphoblastoid	RTeQTL
rs6785045	WDR6	cis	Muscle Skeletal	GTEx
rs6785045	AMT	cis	Adipose Subcutaneous	GTEx
rs6785045	AMT	cis	Artery Aorta	GTEx
rs6785045	AMT	cis	Esophagus Mucosa	GTEx
rs6785045	WDR6	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49396800-49438800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49399000-49448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:49406000-49445200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:49413200-49441400	Weak transcription	Aorta	Aorta
5	chr3:49413200-49443000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:49413200-49447400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:49413400-49439000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:49413600-49441000	Weak transcription	Fetal Brain Female	brain
9	chr3:49417800-49437800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:49422200-49443000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:49424200-49443400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:49425800-49437800	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:49426000-49436600	Weak transcription	Gastric	stomach
14	chr3:49426000-49444000	Weak transcription	Esophagus	oesophagus
15	chr3:49426200-49437800	Weak transcription	Brain Substantia Nigra	brain
16	chr3:49426200-49443000	Weak transcription	NHLF	lung
17	chr3:49427000-49448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:49427400-49435600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr3:49428000-49436000	Strong transcription	GM12878-XiMat	blood
20	chr3:49428800-49438600	Strong transcription	Fetal Stomach	stomach
21	chr3:49429000-49437000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:49429000-49441800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:49429000-49447200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:49429400-49435400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:49429400-49436000	Strong transcription	Fetal Thymus	thymus
26	chr3:49430000-49435800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:49430000-49436000	Strong transcription	Dnd41	blood
28	chr3:49430200-49436000	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr3:49430600-49436000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:49430800-49439200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:49431000-49435400	Weak transcription	Spleen	Spleen
32	chr3:49431000-49437800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:49431200-49447200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:49431800-49435600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr3:49431800-49436200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:49431800-49439600	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr3:49432000-49435800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:49432200-49435400	Weak transcription	Psoas Muscle	Psoas
39	chr3:49432400-49436200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr3:49432400-49436800	Weak transcription	NH-A	brain
41	chr3:49432400-49438000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:49433000-49436000	Strong transcription	Hela-S3	cervix
43	chr3:49433000-49436800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:49433200-49435400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:49433200-49435400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:49433200-49436000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:49433800-49435800	Strong transcription	Primary T cells from cord blood	blood
48	chr3:49433800-49435800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:49433800-49438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:49433800-49438600	Weak transcription	HMEC	breast

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