Variant report

Variant	rs7562121
Chromosome Location	chr2:100384354-100384355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100382265..100384877-chr2:100386362..100389420,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10194527	0.81[ASN][1000 genomes]
rs10198310	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10199548	0.87[ASN][1000 genomes]
rs10204617	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10496340	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865032	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123796	0.97[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12712060	0.83[ASN][1000 genomes]
rs1344701	0.81[ASN][1000 genomes]
rs1344702	0.81[ASN][1000 genomes]
rs1366761	0.93[ASN][1000 genomes]
rs1366766	0.82[ASN][1000 genomes]
rs1429268	0.81[ASN][1000 genomes]
rs1429269	0.81[ASN][1000 genomes]
rs1568786	0.88[ASN][1000 genomes]
rs1608640	0.93[ASN][1000 genomes]
rs2030690	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2115600	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2309650	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2309690	0.80[EUR][1000 genomes]
rs4481043	0.82[ASN][1000 genomes]
rs4851231	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851235	0.81[ASN][1000 genomes]
rs62147565	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6542891	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6542901	0.81[ASN][1000 genomes]
rs6723474	0.81[ASN][1000 genomes]
rs6725716	0.83[ASN][1000 genomes]
rs7560078	0.83[ASN][1000 genomes]
rs7566083	0.94[ASN][1000 genomes]
rs7589376	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7596023	0.83[ASN][1000 genomes]
rs940458	0.82[AMR][1000 genomes]
rs9967704	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
2	chr2:100360000-100394600	Weak transcription	Dnd41	blood
3	chr2:100360200-100385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:100367800-100386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:100373200-100386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:100377800-100386800	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100379800-100386400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:100380000-100393200	Weak transcription	Primary T cells from cord blood	blood
9	chr2:100382400-100386200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:100382400-100390600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:100383400-100385400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:100383800-100388600	Weak transcription	Ovary	ovary
13	chr2:100384200-100386400	Weak transcription	Placenta	Placenta
14	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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