Variant report

Variant	rs3777458
Chromosome Location	chr6:131257347-131257348
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	chr6:131251571..131254129-chr6:131255029..131257491,2	K562	blood:
2	chr6:131256677..131258531-chr6:131266868..131268391,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12110524	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12193574	0.86[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12206057	0.84[CEU][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12526896	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs12530288	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs12664445	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2068147	0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs2183967	0.91[JPT][hapmap]
rs2275509	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777434	0.91[JPT][hapmap]
rs3777435	0.83[JPT][hapmap]
rs3777438	0.84[CEU][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3777440	0.91[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs3777441	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3777442	0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs3777454	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3777455	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3777457	0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3777461	0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs3777462	0.93[ASN][1000 genomes]
rs3777465	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3777466	0.95[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs3798249	0.89[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs3798250	0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3822861	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822863	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4323333	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4357159	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897468	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4897471	0.90[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs4897472	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs4897474	0.89[ASN][1000 genomes]
rs6569707	0.86[JPT][hapmap]
rs6569713	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6569715	0.92[ASN][1000 genomes]
rs6928986	0.86[CHD][hapmap]
rs6938586	0.84[CEU][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6939358	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6941712	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs7747517	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7763584	0.85[ASN][1000 genomes]
rs7773290	0.89[ASN][1000 genomes]
rs7775013	0.83[JPT][hapmap]
rs9321257	0.92[ASN][1000 genomes]
rs9321260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs933063	0.87[JPT][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap]
rs9375779	0.92[ASN][1000 genomes]
rs9375781	0.92[ASN][1000 genomes]
rs9375782	0.93[ASN][1000 genomes]
rs9375783	0.92[ASN][1000 genomes]
rs9388861	0.81[JPT][hapmap]
rs9388863	0.83[JPT][hapmap]
rs9388864	0.85[ASN][1000 genomes]
rs9388869	0.94[ASN][1000 genomes]
rs9402292	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs9402299	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs9483185	0.88[ASN][1000 genomes]
rs9483192	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9483201	0.84[ASN][1000 genomes]
rs9492755	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9492756	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3777458	EPB41L2	cis	parietal	SCAN
rs3777458	ALDH8A1	cis	cerebellum	SCAN
rs3777458	HBS1L	cis	cerebellum	SCAN

Chromatin state (count:72 , 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	chr6:131246200-131264800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:131249000-131259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:131251200-131268200	Weak transcription	Right Atrium	heart
7	chr6:131253000-131272800	Weak transcription	Dnd41	blood
8	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
9	chr6:131253600-131257400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:131253600-131257400	Enhancers	Adipose Nuclei	Adipose
11	chr6:131253800-131257600	Enhancers	Osteobl	bone
12	chr6:131254000-131258200	Enhancers	NHLF	lung
13	chr6:131254200-131257400	Enhancers	HSMM	muscle
14	chr6:131254200-131258200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:131254400-131257400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:131254800-131257600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:131255000-131274600	Weak transcription	Fetal Stomach	stomach
18	chr6:131255200-131257800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr6:131255200-131258000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:131255200-131258200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:131255200-131262600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:131255200-131264600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:131255200-131265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:131255200-131265800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:131255200-131276000	Weak transcription	Left Ventricle	heart
26	chr6:131255400-131258200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:131255400-131258200	Enhancers	A549	lung
28	chr6:131255400-131258200	Enhancers	HSMMtube	muscle
29	chr6:131255400-131259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:131255400-131259200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:131255400-131259200	Enhancers	HepG2	liver
32	chr6:131255400-131259200	Weak transcription	HMEC	breast
33	chr6:131255400-131259200	Weak transcription	NH-A	brain
34	chr6:131255400-131259600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:131255400-131264600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:131255400-131276200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:131255400-131288800	Weak transcription	Fetal Kidney	kidney
38	chr6:131255800-131257800	Enhancers	NHDF-Ad	bronchial
39	chr6:131255800-131258000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:131255800-131258000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:131255800-131259200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:131255800-131264400	Weak transcription	Fetal Intestine Small	intestine
43	chr6:131255800-131265800	Weak transcription	Pancreas	Pancrea
44	chr6:131255800-131276200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:131255800-131277400	Weak transcription	Psoas Muscle	Psoas
46	chr6:131256000-131258000	Weak transcription	Ovary	ovary
47	chr6:131256000-131258800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:131256000-131263000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:131256000-131279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:131256200-131258400	Enhancers	Fetal Lung	lung

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