Variant report

Variant	rs929942
Chromosome Location	chr1:184160815-184160816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184157500..184160984-chr1:184162695..184165772,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10911521	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10911523	0.91[EUR][1000 genomes]
rs10911528	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911529	0.80[ASN][1000 genomes]
rs11802235	0.90[ASN][1000 genomes]
rs11810038	0.90[ASN][1000 genomes]
rs12119930	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119989	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129040	0.93[EUR][1000 genomes]
rs12136090	0.89[EUR][1000 genomes]
rs12401732	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402004	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12402028	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403264	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161989	0.80[ASN][1000 genomes]
rs2194700	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2378818	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378820	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301155	0.89[EUR][1000 genomes]
rs34518379	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36086128	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650658	0.90[ASN][1000 genomes]
rs58294748	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6660720	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6670049	0.80[ASN][1000 genomes]
rs6678597	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6694958	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696567	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6697294	0.92[EUR][1000 genomes]
rs7518664	0.89[EUR][1000 genomes]
rs9650990	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184157000-184162000	Weak transcription	Right Ventricle	heart
2	chr1:184157000-184162200	Weak transcription	Left Ventricle	heart
3	chr1:184157800-184162400	Enhancers	Fetal Heart	heart
4	chr1:184158600-184163200	Enhancers	Fetal Stomach	stomach
5	chr1:184159400-184161400	Enhancers	Fetal Lung	lung
6	chr1:184159600-184161600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:184159800-184161400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:184160000-184161000	Enhancers	Brain Substantia Nigra	brain
9	chr1:184160000-184161000	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:184160000-184161200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:184160000-184161200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:184160000-184161200	Enhancers	NHLF	lung
13	chr1:184160200-184161000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:184160200-184161000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:184160200-184161000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:184160200-184161000	Enhancers	Fetal Kidney	kidney
17	chr1:184160200-184161000	Enhancers	HSMMtube	muscle
18	chr1:184160200-184161200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:184160600-184163200	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:184160800-184162600	Weak transcription	Fetal Brain Male	brain
21	chr1:184160800-184169200	Weak transcription	Fetal Brain Female	brain

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