Variant report

Variant	rs12408490
Chromosome Location	chr1:170376743-170376744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10753804	0.83[ASN][1000 genomes]
rs10919367	0.81[ASN][1000 genomes]
rs10919370	0.81[ASN][1000 genomes]
rs10919386	0.89[ASN][1000 genomes]
rs10919387	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12027094	0.81[ASN][1000 genomes]
rs12036009	0.85[ASN][1000 genomes]
rs1930539	0.81[ASN][1000 genomes]
rs2151250	0.81[ASN][1000 genomes]
rs2151251	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2756870	chr1:170315081-170413292	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv2758977	chr1:170315081-170413292	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1014576	chr1:170366471-170383224	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1012584	chr1:170367098-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv1002109	chr1:170367098-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv441720	chr1:170367646-170387205	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv1010414	chr1:170367650-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv2764177	chr1:170367650-170387331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
13	nsv1004916	chr1:170367650-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	nsv1000945	chr1:170367650-170401770	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
15	nsv514018	chr1:170367664-170386144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1000840	chr1:170367736-170387193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv1000663	chr1:170370782-170387193	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv1000790	chr1:170370782-170387331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv517083	chr1:170371403-170380480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
20	esv3692946	chr1:170372503-170380480	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170376000-170377200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:170376000-170377400	Enhancers	NHLF	lung
3	chr1:170376000-170377400	Enhancers	Osteobl	bone
4	chr1:170376000-170379800	Enhancers	NHDF-Ad	bronchial
5	chr1:170376000-170385800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:170376400-170376800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:170376400-170376800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:170376600-170377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:170376600-170379800	Weak transcription	Fetal Heart	heart

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