Variant report

Variant	rs6795463
Chromosome Location	chr3:69846108-69846109
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69839973..69842535-chr3:69843772..69847485,3	K562	blood:
2	chr3:69845234..69848226-chr3:69856309..69859149,2	K562	blood:
3	chr3:69839973..69842535-chr3:69844514..69847485,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10510991	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1121878	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs11716109	0.96[CEU][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11916348	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11919798	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11921388	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11921548	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11923382	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12330279	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13071701	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13073599	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs13078066	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13080248	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13093918	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13097379	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13097431	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1430608	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1430609	0.81[ASW][hapmap]
rs1430611	0.89[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1529583	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1529584	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1529585	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1529586	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1544978	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17006441	0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17638562	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2262	0.82[EUR][1000 genomes]
rs34165775	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34255600	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34610895	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34818992	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35017084	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35022873	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35183823	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35408095	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35759074	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35879809	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35896616	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56056340	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56199973	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59913237	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62250968	0.87[EUR][1000 genomes]
rs62251034	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62251035	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62251038	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62252216	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62252223	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62252236	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62253059	0.85[EUR][1000 genomes]
rs62253173	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6549251	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6549252	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66849717	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6768731	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6777363	0.93[ASW][hapmap];0.96[CEU][hapmap];0.85[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6778747	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6781171	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6782552	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6793179	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6794889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6795249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6804686	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6805563	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6805924	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6805945	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7613400	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7624235	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7626629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7626717	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7634376	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7634543	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7634549	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7635551	0.81[YRI][hapmap]
rs7635653	0.81[ASW][hapmap]
rs7636802	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9819188	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9819504	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9823839	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9825822	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9825958	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs9826548	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9854710	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9858495	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9864805	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9864949	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9872200	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9876482	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009045	chr3:69821621-69875782	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6795463	EBLN2	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69841200-69847200	Weak transcription	Right Ventricle	heart
2	chr3:69841200-69856200	Weak transcription	Ovary	ovary
3	chr3:69841200-69857600	Weak transcription	Right Atrium	heart
4	chr3:69841400-69846800	Weak transcription	Aorta	Aorta
5	chr3:69841400-69847200	Weak transcription	Psoas Muscle	Psoas
6	chr3:69841400-69848600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:69841400-69853200	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:69841400-69855800	Weak transcription	HSMM	muscle
9	chr3:69841600-69853400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:69841800-69855400	Weak transcription	NHLF	lung
11	chr3:69842000-69846800	Weak transcription	HUVEC	blood vessel
12	chr3:69842200-69853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:69842400-69848200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:69843000-69850600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:69843200-69848200	Weak transcription	K562	blood
16	chr3:69843400-69859800	Weak transcription	Left Ventricle	heart
17	chr3:69843600-69850400	Weak transcription	Fetal Heart	heart
18	chr3:69844000-69849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:69844000-69856000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:69845400-69849200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:69846000-69846200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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