Variant report

Variant	rs6674507
Chromosome Location	chr1:210066145-210066146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1883725	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2143545	0.88[EUR][1000 genomes]
rs2206700	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675416	0.80[EUR][1000 genomes]
rs6677876	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6681355	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511737	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6674507	LOC148696	cis	parietal	SCAN
rs6674507	IL24	cis	cerebellum	SCAN
rs6674507	SERTAD4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210060400-210066800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:210060600-210068200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210062400-210066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210064200-210066800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:210064400-210068200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:210064400-210068800	Weak transcription	HSMM	muscle
7	chr1:210064600-210068200	Weak transcription	HUVEC	blood vessel
8	chr1:210064800-210066200	Weak transcription	Hela-S3	cervix
9	chr1:210065200-210066800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:210065200-210067000	Weak transcription	NHDF-Ad	bronchial
11	chr1:210065200-210068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:210065200-210068000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:210065200-210068000	Weak transcription	NH-A	brain
14	chr1:210065200-210068200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:210065200-210068200	Weak transcription	Osteobl	bone
16	chr1:210065400-210066600	Weak transcription	NHEK	skin
17	chr1:210065400-210066800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:210065400-210066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:210065400-210068000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:210065800-210066800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:210066000-210067200	Enhancers	HMEC	breast

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