Variant report

Variant	rs7769678
Chromosome Location	chr6:131289917-131289918
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	chr6:131287420..131290006-chr6:131292145..131295330,3	K562	blood:
2	chr6:131288021..131290598-chr6:131292488..131295330,3	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1043596	0.80[CEU][hapmap]
rs12194612	0.80[CEU][hapmap]
rs12525104	0.89[ASN][1000 genomes]
rs12525986	1.00[ASN][1000 genomes]
rs13437326	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17178878	0.95[ASN][1000 genomes]
rs17179123	0.95[ASN][1000 genomes]
rs17180687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17180867	0.89[ASN][1000 genomes]
rs17770255	1.00[JPT][hapmap]
rs17784418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17784472	0.89[ASN][1000 genomes]
rs17784896	0.87[ASN][1000 genomes]
rs17785507	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1811949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977576	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2095961	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2297853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28482889	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34899420	0.95[ASN][1000 genomes]
rs3777465	0.84[AFR][1000 genomes]
rs45550834	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4895903	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4895904	0.89[ASN][1000 genomes]
rs4895906	0.89[ASN][1000 genomes]
rs4895907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4895908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4895909	0.89[ASN][1000 genomes]
rs4897473	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4897478	0.95[ASN][1000 genomes]
rs4897484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4897485	1.00[JPT][hapmap]
rs4897486	0.89[ASN][1000 genomes]
rs4897487	0.89[ASN][1000 genomes]
rs4897489	0.89[ASN][1000 genomes]
rs4897491	0.89[ASN][1000 genomes]
rs55898152	0.89[ASN][1000 genomes]
rs56163502	0.89[ASN][1000 genomes]
rs56173113	1.00[ASN][1000 genomes]
rs56201801	0.89[ASN][1000 genomes]
rs62422362	0.89[ASN][1000 genomes]
rs62422365	0.89[ASN][1000 genomes]
rs62422380	0.89[ASN][1000 genomes]
rs62423581	1.00[ASN][1000 genomes]
rs62423598	0.95[ASN][1000 genomes]
rs6906059	0.84[ASN][1000 genomes]
rs6906478	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6908980	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6910656	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6916024	0.89[ASN][1000 genomes]
rs6921396	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922177	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926250	1.00[CHB][hapmap]
rs6928920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6931804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6935108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7741148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755720	1.00[ASN][1000 genomes]
rs7758016	0.87[ASN][1000 genomes]
rs7761311	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7771543	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs915172	0.80[CEU][hapmap]
rs9321263	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs933063	0.84[CEU][hapmap]
rs9372985	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9385568	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388872	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9402303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9483206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs954211	0.82[CHB][hapmap];1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7769678	EPB41L2	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:131267000-131294800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:131269000-131290400	Weak transcription	Right Ventricle	heart
4	chr6:131272200-131301000	Weak transcription	Placenta	Placenta
5	chr6:131277400-131290000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:131286200-131290800	Weak transcription	Liver	Liver
7	chr6:131286200-131293600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:131286800-131290200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:131286800-131291600	Active TSS	Aorta	Aorta
10	chr6:131287000-131290800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:131287400-131290800	Enhancers	Fetal Heart	heart
12	chr6:131287600-131291800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:131288200-131290400	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:131288200-131291600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:131288400-131290000	Flanking Active TSS	Fetal Lung	lung
17	chr6:131288400-131290800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:131288400-131291800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:131288600-131290800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:131288600-131290800	Enhancers	HepG2	liver
21	chr6:131288600-131292200	Weak transcription	K562	blood
22	chr6:131288800-131291400	Active TSS	Psoas Muscle	Psoas
23	chr6:131288800-131291600	Active TSS	Fetal Muscle Trunk	muscle
24	chr6:131288800-131291600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:131288800-131291600	Active TSS	Stomach Smooth Muscle	stomach
26	chr6:131289000-131291400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:131289000-131292000	Flanking Active TSS	Osteobl	bone
28	chr6:131289000-131294800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:131289200-131290200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:131289200-131290400	Active TSS	Left Ventricle	heart
31	chr6:131289200-131290600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:131289200-131290800	Enhancers	Fetal Intestine Large	intestine
33	chr6:131289200-131291000	Weak transcription	Brain Substantia Nigra	brain
34	chr6:131289200-131291200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:131289200-131291200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:131289200-131291400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:131289200-131292200	Weak transcription	Fetal Thymus	thymus
38	chr6:131289200-131294800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:131289200-131294800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:131289400-131290200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:131289400-131290200	Active TSS	Colon Smooth Muscle	Colon
42	chr6:131289400-131290200	Weak transcription	Fetal Brain Male	brain
43	chr6:131289400-131290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:131289400-131291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:131289400-131291400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:131289400-131291600	Active TSS	Brain Hippocampus Middle	brain
47	chr6:131289400-131291600	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr6:131289400-131291800	Active TSS	NHLF	lung
49	chr6:131289400-131296400	Weak transcription	HUVEC	blood vessel
50	chr6:131289600-131290000	Enhancers	Rectal Smooth Muscle	rectum

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