Variant report

Variant	rs1795240
Chromosome Location	chr1:171091875-171091876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1736556	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1736560	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs1736561	0.84[EUR][1000 genomes]
rs1736564	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1736565	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1736567	0.82[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1736568	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1795241	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795243	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795244	0.82[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1795245	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1795248	0.86[EUR][1000 genomes]
rs2075992	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2281003	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs4916390	0.82[EUR][1000 genomes]
rs6608461	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Lentiform nucleus volume	22903471	GWAS catalog

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171084200-171092200	Weak transcription	Small Intestine	intestine
2	chr1:171086600-171095800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:171089600-171095800	Weak transcription	NHLF	lung
4	chr1:171090200-171092000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:171091000-171098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:171091400-171092400	Enhancers	Fetal Intestine Large	intestine
7	chr1:171091400-171092600	Enhancers	Aorta	Aorta
8	chr1:171091400-171092800	Enhancers	Adipose Nuclei	Adipose
9	chr1:171091400-171092800	Enhancers	Left Ventricle	heart
10	chr1:171091400-171092800	Enhancers	Right Atrium	heart
11	chr1:171091400-171093800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:171091600-171092200	Weak transcription	Psoas Muscle	Psoas
13	chr1:171091600-171092800	Enhancers	Pancreas	Pancrea
14	chr1:171091600-171093600	Enhancers	Fetal Heart	heart
15	chr1:171091600-171109000	Weak transcription	Right Ventricle	heart
16	chr1:171091800-171092600	Enhancers	Fetal Lung	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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