Variant report

Variant	rs56054309
Chromosome Location	chr2:100794940-100794941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:100784123..100785960-chr2:100793571..100795135,2	K562	blood:
2	chr2:100794586..100795120-chr2:100859430..100860008,2	MCF-7	breast:
3	chr2:100793774..100796720-chr2:100799072..100801535,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10167029	0.82[EUR][1000 genomes]
rs10167279	0.83[EUR][1000 genomes]
rs10185059	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10185510	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10197987	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10496344	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11123809	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123810	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123811	0.94[ASN][1000 genomes]
rs11123812	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123813	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677053	0.85[EUR][1000 genomes]
rs11681227	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11681966	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689956	0.81[ASN][1000 genomes]
rs11690905	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11691486	0.81[ASN][1000 genomes]
rs11891046	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11899489	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11900482	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11902705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712064	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12712065	0.94[ASN][1000 genomes]
rs12712067	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12712068	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712071	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712073	0.81[EUR][1000 genomes]
rs12987209	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12987212	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13003982	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13005282	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13010436	0.81[ASN][1000 genomes]
rs13028981	0.81[ASN][1000 genomes]
rs13032454	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13415465	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13415583	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370353	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1821826	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1821827	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009094	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009095	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2118280	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2164712	0.86[EUR][1000 genomes]
rs2309752	0.91[ASN][1000 genomes]
rs4490209	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4850921	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4851252	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851253	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851256	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4851257	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4851262	0.81[ASN][1000 genomes]
rs7590378	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7593261	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7608424	0.98[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	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
2	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100791000-100809000	Weak transcription	Right Atrium	heart
2	chr2:100794000-100796000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:100794400-100795000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:100794400-100795000	Enhancers	Stomach Mucosa	stomach
5	chr2:100794400-100795200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:100794400-100795200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:100794400-100795200	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:100794600-100797200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:100794800-100795000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:100794800-100795200	Active TSS	A549	lung

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