Variant report

Variant	rs985757
Chromosome Location	chr20:40967217-40967218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs16986677	1.00[AMR][1000 genomes]
rs16986682	1.00[AMR][1000 genomes]
rs16986705	1.00[AMR][1000 genomes]
rs16986706	1.00[AMR][1000 genomes]
rs16986708	1.00[AMR][1000 genomes]
rs16986723	1.00[AMR][1000 genomes]
rs16986727	1.00[AMR][1000 genomes]
rs4525752	1.00[AMR][1000 genomes]
rs56378585	1.00[EUR][1000 genomes]
rs57580734	1.00[AMR][1000 genomes]
rs58705218	1.00[AMR][1000 genomes]
rs59448108	1.00[AMR][1000 genomes]
rs59848120	1.00[AMR][1000 genomes]
rs6030125	1.00[EUR][1000 genomes]
rs6030271	1.00[AMR][1000 genomes]
rs6093612	1.00[AMR][1000 genomes]
rs6093613	1.00[AMR][1000 genomes]
rs6093614	1.00[EUR][1000 genomes]
rs6093624	0.85[LWK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6102777	1.00[EUR][1000 genomes]
rs6102785	1.00[EUR][1000 genomes]
rs6102787	1.00[EUR][1000 genomes]
rs6102790	1.00[EUR][1000 genomes]
rs6102792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs719665	1.00[AMR][1000 genomes]
rs73254735	1.00[AMR][1000 genomes]
rs73254747	1.00[AMR][1000 genomes]
rs73254757	1.00[AMR][1000 genomes]
rs73254768	1.00[AMR][1000 genomes]
rs73254772	1.00[AMR][1000 genomes]
rs73257070	1.00[AMR][1000 genomes]
rs73257084	1.00[AMR][1000 genomes]
rs73257090	1.00[AMR][1000 genomes]
rs73260991	1.00[AMR][1000 genomes]
rs73262915	1.00[AMR][1000 genomes]
rs73262920	1.00[AMR][1000 genomes]
rs73262921	1.00[AMR][1000 genomes]
rs73262922	1.00[AMR][1000 genomes]
rs73262924	1.00[AMR][1000 genomes]
rs73265788	1.00[AMR][1000 genomes]
rs73265792	1.00[AMR][1000 genomes]
rs73267617	1.00[EUR][1000 genomes]
rs73268829	1.00[AMR][1000 genomes]
rs73268834	1.00[AMR][1000 genomes]
rs73268861	1.00[AMR][1000 genomes]
rs73268862	1.00[AMR][1000 genomes]
rs73268867	1.00[AMR][1000 genomes]
rs73268883	1.00[AMR][1000 genomes]
rs73268888	1.00[AMR][1000 genomes]
rs73268890	1.00[AMR][1000 genomes]
rs73271012	1.00[AMR][1000 genomes]
rs73271014	1.00[AMR][1000 genomes]
rs73271018	1.00[AMR][1000 genomes]
rs73271025	1.00[AMR][1000 genomes]
rs73271032	1.00[AMR][1000 genomes]
rs73273121	1.00[AMR][1000 genomes]
rs73273135	1.00[AMR][1000 genomes]
rs73273154	1.00[AMR][1000 genomes]
rs73273406	1.00[AMR][1000 genomes]
rs73273411	1.00[AMR][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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv912874	chr20:40947084-40972949	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv516291	chr20:40952914-40970090	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40964800-40969800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr20:40965000-40970400	Enhancers	Fetal Muscle Leg	muscle
3	chr20:40965600-40969400	Enhancers	Fetal Lung	lung
4	chr20:40966400-40968400	Enhancers	Brain Hippocampus Middle	brain
5	chr20:40966600-40967800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:40966600-40968200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr20:40966600-40968200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr20:40966600-40968800	Enhancers	Psoas Muscle	Psoas
9	chr20:40966800-40967800	Weak transcription	Right Atrium	heart
10	chr20:40966800-40968000	Weak transcription	Right Ventricle	heart
11	chr20:40966800-40968200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:40966800-40968400	Enhancers	Brain Angular Gyrus	brain
13	chr20:40966800-40969200	Weak transcription	Left Ventricle	heart
14	chr20:40967000-40967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr20:40967000-40968200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr20:40967000-40968800	Enhancers	Adipose Nuclei	Adipose
17	chr20:40967000-40969200	Enhancers	Fetal Stomach	stomach
18	chr20:40967200-40968000	Enhancers	Fetal Brain Male	brain

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