Variant report

Variant	rs4895959
Chromosome Location	chr6:133575875-133575876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1338009	0.94[ASN][1000 genomes]
rs1361147	0.94[ASN][1000 genomes]
rs1361148	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1361149	0.94[ASN][1000 genomes]
rs2038476	0.94[ASN][1000 genomes]
rs3756867	0.94[ASN][1000 genomes]
rs3777787	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3777794	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3813346	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4895955	0.94[ASN][1000 genomes]
rs6569872	0.94[ASN][1000 genomes]
rs6903443	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7745129	0.92[CEU][hapmap];0.85[CHB][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7775273	0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9321391	0.93[ASN][1000 genomes]
rs9375951	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[MEX][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9389065	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758080	chr6:133444719-133627364	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759470	chr6:133444719-133627364	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv470862	chr6:133492507-133600402	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv886678	chr6:133550279-133631190	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv5483	chr6:133554303-133599338	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4895959	EYA4	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133567400-133583600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:133574200-133576200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr6:133574800-133577400	Enhancers	Hela-S3	cervix
4	chr6:133575000-133576400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:133575000-133576600	Enhancers	NHLF	lung
6	chr6:133575200-133576400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:133575200-133585200	Weak transcription	Psoas Muscle	Psoas
8	chr6:133575400-133576400	Enhancers	NH-A	brain
9	chr6:133575400-133576800	Enhancers	Osteobl	bone
10	chr6:133575600-133576000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:133575600-133576200	Enhancers	HMEC	breast
12	chr6:133575600-133576400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:133575600-133576400	Active TSS	A549	lung
14	chr6:133575600-133576600	Enhancers	HSMMtube	muscle
15	chr6:133575600-133577000	Enhancers	NHDF-Ad	bronchial
16	chr6:133575800-133576000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:133575800-133576200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:133575800-133576200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:133575800-133576600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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