Variant report

Variant	rs12046836
Chromosome Location	chr1:98598745-98598746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1032196	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493900	0.91[ASN][1000 genomes]
rs10518654	0.97[ASN][1000 genomes]
rs10783085	0.82[ASN][1000 genomes]
rs10875130	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875131	0.91[ASN][1000 genomes]
rs10875132	0.82[ASN][1000 genomes]
rs11165950	0.85[ASN][1000 genomes]
rs11165951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165952	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165953	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11165954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165955	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165957	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165958	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165961	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580992	0.97[ASN][1000 genomes]
rs11802316	0.97[ASN][1000 genomes]
rs11807935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021635	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12021663	1.00[ASN][1000 genomes]
rs12027634	0.97[ASN][1000 genomes]
rs12033249	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12038627	0.97[ASN][1000 genomes]
rs12043365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044342	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407126	0.97[ASN][1000 genomes]
rs12407367	0.97[ASN][1000 genomes]
rs12567176	0.88[ASN][1000 genomes]
rs12567725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487289	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487301	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1487302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117613	0.97[ASN][1000 genomes]
rs17117616	0.97[ASN][1000 genomes]
rs17117677	0.97[ASN][1000 genomes]
rs17117759	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117764	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17117766	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17117881	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1911501	0.97[ASN][1000 genomes]
rs1911502	0.97[ASN][1000 genomes]
rs2046585	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055686	0.97[ASN][1000 genomes]
rs2200583	0.88[ASN][1000 genomes]
rs355373	0.97[ASN][1000 genomes]
rs355376	0.97[ASN][1000 genomes]
rs355377	0.97[ASN][1000 genomes]
rs355379	0.97[ASN][1000 genomes]
rs4950093	0.97[ASN][1000 genomes]
rs4950094	0.97[ASN][1000 genomes]
rs4950095	0.97[ASN][1000 genomes]
rs4950096	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664310	0.97[ASN][1000 genomes]
rs7525127	0.97[ASN][1000 genomes]
rs7533634	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv830736	chr1:98488491-98663726	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv432531	chr1:98524979-98604179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv823631	chr1:98554257-98687985	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv462583	chr1:98554409-98645213	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546875	chr1:98554409-98645213	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv524889	chr1:98592630-98604137	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
9	nsv523942	chr1:98595853-98605413	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98597800-98599200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:98598200-98599000	Enhancers	Liver	Liver
3	chr1:98598200-98599400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:98598200-98599400	Enhancers	HSMMtube	muscle
5	chr1:98598200-98599600	Enhancers	Fetal Brain Male	brain
6	chr1:98598200-98599600	Enhancers	Fetal Heart	heart
7	chr1:98598400-98598800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:98598400-98599200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:98598400-98599400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:98598400-98599600	Enhancers	NHDF-Ad	bronchial
11	chr1:98598600-98599200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:98598600-98599200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:98598600-98599200	Enhancers	Adipose Nuclei	Adipose
14	chr1:98598600-98599200	Enhancers	Brain Hippocampus Middle	brain
15	chr1:98598600-98599400	Enhancers	Brain Substantia Nigra	brain
16	chr1:98598600-98599400	Enhancers	Osteobl	bone

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