Variant report

Variant	rs13161930
Chromosome Location	chr5:40986084-40986085
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1061443	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12153342	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12188487	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12188500	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs14190	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1450665	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16870568	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1901167	0.84[CEU][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap]
rs1996343	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2292727	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2329433	0.91[EUR][1000 genomes]
rs2329434	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876849	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34641824	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34772674	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792647	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41271065	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72749584	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs881391	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv880339	chr5:40986084-41034181	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40931200-40992200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:40931800-40991000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:40960400-40989600	Weak transcription	Left Ventricle	heart
4	chr5:40968200-40990400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:40979400-40991000	Weak transcription	Fetal Kidney	kidney
6	chr5:40981000-40988800	Weak transcription	Lung	lung
7	chr5:40982000-40991800	Weak transcription	Spleen	Spleen
8	chr5:40983000-40986200	Enhancers	HMEC	breast
9	chr5:40983200-40986200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:40983600-40986600	Weak transcription	Fetal Lung	lung
11	chr5:40983800-40986200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:40983800-40986200	Enhancers	NH-A	brain
13	chr5:40984200-40990400	Weak transcription	Ovary	ovary
14	chr5:40985000-40989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:40985000-40990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:40985600-40986200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:40985600-40990400	Weak transcription	Osteobl	bone
18	chr5:40986000-40988800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	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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