Variant report

Variant	rs13040961
Chromosome Location	chr20:24642930-24642931
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	chr20:24637159..24638708-chr20:24641343..24643289,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12624767	0.87[ASN][1000 genomes]
rs12625030	0.86[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs13041031	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13045365	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35268179	0.85[ASN][1000 genomes]
rs35642348	0.85[ASN][1000 genomes]
rs35832827	0.87[ASN][1000 genomes]
rs3746326	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3746328	0.82[ASN][1000 genomes]
rs4140548	0.85[JPT][hapmap]
rs6036878	0.85[JPT][hapmap]
rs6049859	0.90[JPT][hapmap]
rs6049860	0.85[JPT][hapmap]
rs6049868	0.85[JPT][hapmap]
rs6049869	0.84[JPT][hapmap]
rs6049871	0.84[JPT][hapmap]
rs6049872	0.84[JPT][hapmap]
rs6049874	0.85[JPT][hapmap]
rs6114819	0.84[EUR][1000 genomes]
rs729540	0.82[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs735186	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs742804	0.86[ASN][1000 genomes]
rs742807	0.85[JPT][hapmap]
rs880502	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524920	chr20:24639916-24683554	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24634600-24648800	Weak transcription	Gastric	stomach
2	chr20:24638600-24643400	Weak transcription	Fetal Kidney	kidney
3	chr20:24639000-24650400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr20:24639200-24648600	Weak transcription	Spleen	Spleen
5	chr20:24640200-24643200	Weak transcription	Brain Angular Gyrus	brain
6	chr20:24640200-24643200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr20:24640400-24646000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr20:24640800-24643600	Enhancers	Brain Hippocampus Middle	brain
9	chr20:24641200-24654000	Weak transcription	Aorta	Aorta
10	chr20:24641400-24643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:24641400-24645400	Weak transcription	Brain Anterior Caudate	brain
12	chr20:24641400-24649400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:24641600-24643200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr20:24641600-24643200	Weak transcription	Brain Substantia Nigra	brain
15	chr20:24641600-24643400	Enhancers	Fetal Muscle Trunk	muscle
16	chr20:24641600-24646200	Enhancers	Fetal Muscle Leg	muscle
17	chr20:24641800-24649800	Weak transcription	Right Ventricle	heart
18	chr20:24642600-24643400	Enhancers	Right Atrium	heart
19	chr20:24642800-24644400	Enhancers	HSMMtube	muscle

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