Variant report

Variant	rs6793513
Chromosome Location	chr3:134174071-134174072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs56311960	0.86[EUR][1000 genomes]
rs61675811	0.82[ASN][1000 genomes]
rs7650509	0.84[LWK][hapmap];0.85[YRI][hapmap]
rs9827878	1.00[CEU][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs9838597	0.87[EUR][1000 genomes]
rs9866359	0.94[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes]
rs9985481	1.00[CEU][hapmap];0.84[YRI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6793513	KY	cis	cerebellum	SCAN
rs6793513	DBR1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134166000-134181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:134167200-134181800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:134168800-134176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:134168800-134176600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:134168800-134176600	Weak transcription	Right Atrium	heart
6	chr3:134169000-134183600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:134169200-134178600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:134169200-134180400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:134171000-134175800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:134171000-134175800	Weak transcription	NHDF-Ad	bronchial
11	chr3:134171000-134178600	Weak transcription	Osteobl	bone
12	chr3:134171200-134176400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:134172600-134176600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:134172600-134178200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:134172800-134176600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:134173000-134181200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:134173200-134180800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:134173200-134181000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:134173800-134175600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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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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