Variant report

Variant	rs3777461
Chromosome Location	chr6:131264833-131264834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs12193574	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12526896	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12530288	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12664445	0.90[ASN][1000 genomes]
rs17180687	0.87[MKK][hapmap]
rs2068147	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2183967	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2275509	0.91[ASN][1000 genomes]
rs3777434	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3777435	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs3777436	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs3777440	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777441	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3777442	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3777455	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3777458	0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs3777462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777465	0.94[ASN][1000 genomes]
rs3777466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798249	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3798250	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822861	0.89[ASN][1000 genomes]
rs3822863	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4323333	0.95[ASN][1000 genomes]
rs4357159	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4895901	0.82[YRI][hapmap]
rs4897468	0.86[JPT][hapmap]
rs4897471	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897472	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4897473	0.90[MKK][hapmap]
rs4897474	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897484	0.90[MKK][hapmap]
rs6569707	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6569708	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs6569715	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908917	0.84[CHD][hapmap]
rs6919007	0.91[JPT][hapmap]
rs6941712	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7742376	0.84[CHD][hapmap]
rs7760965	0.91[JPT][hapmap]
rs7763584	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7773290	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7775013	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs9321257	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321260	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs933063	0.91[JPT][hapmap]
rs9375779	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375781	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375782	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9375783	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375785	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs9375789	0.83[CHD][hapmap]
rs9388861	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs9388863	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs9388864	0.90[ASN][1000 genomes]
rs9388869	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398967	0.81[CHD][hapmap]
rs9402299	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9483185	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9483192	0.97[ASN][1000 genomes]
rs9483201	0.83[ASN][1000 genomes]
rs9492755	0.91[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs9492756	0.89[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3777461	LOC285733	cis	Liver	GTEx
rs3777461	EPB41L2	cis	parietal	SCAN
rs3777461	EPB41L2	cis	multi-tissue	Pritchard
rs3777461	Contig55583_RC	cis	multi-tissue	Pritchard
rs3777461	ALDH8A1	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131220600-131281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131234800-131266600	Weak transcription	GM12878-XiMat	blood
3	chr6:131244200-131279000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:131251200-131268200	Weak transcription	Right Atrium	heart
5	chr6:131253000-131272800	Weak transcription	Dnd41	blood
6	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
7	chr6:131255000-131274600	Weak transcription	Fetal Stomach	stomach
8	chr6:131255200-131265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:131255200-131265800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:131255200-131276000	Weak transcription	Left Ventricle	heart
11	chr6:131255400-131276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:131255400-131288800	Weak transcription	Fetal Kidney	kidney
13	chr6:131255800-131265800	Weak transcription	Pancreas	Pancrea
14	chr6:131255800-131276200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:131255800-131277400	Weak transcription	Psoas Muscle	Psoas
16	chr6:131256000-131279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:131256600-131265200	Weak transcription	Aorta	Aorta
18	chr6:131257200-131270200	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:131257400-131281800	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:131258200-131265600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:131258400-131265000	Weak transcription	Ovary	ovary
22	chr6:131258400-131265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:131258400-131265600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:131258400-131265600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:131258400-131265800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:131259800-131265000	Weak transcription	NHLF	lung
27	chr6:131259800-131265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:131259800-131265800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:131259800-131268200	Weak transcription	HSMM	muscle
30	chr6:131260000-131265000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:131260000-131265600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:131260000-131265800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:131260000-131265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:131260000-131286200	Weak transcription	HSMMtube	muscle
35	chr6:131260200-131265000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:131260200-131265400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:131260200-131265600	Weak transcription	A549	lung
38	chr6:131260200-131266800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:131260200-131266800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:131260400-131265600	Weak transcription	NH-A	brain
41	chr6:131260400-131265800	Weak transcription	HMEC	breast
42	chr6:131263600-131272800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:131264200-131265000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:131264400-131267200	Enhancers	Fetal Intestine Small	intestine
45	chr6:131264400-131267200	Enhancers	Stomach Mucosa	stomach
46	chr6:131264400-131269200	Enhancers	HepG2	liver
47	chr6:131264600-131265200	Enhancers	NHDF-Ad	bronchial
48	chr6:131264600-131265600	Enhancers	Brain Anterior Caudate	brain
49	chr6:131264600-131265600	Enhancers	Duodenum Mucosa	Duodenum
50	chr6:131264600-131266000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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