Variant report

Variant	rs2293549
Chromosome Location	chr7:137206307-137206308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:137205678..137207528-chr7:137211827..137214394,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10226880	0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10246490	0.93[CHB][hapmap]
rs10249241	1.00[ASN][1000 genomes]
rs10260210	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs10480524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1097033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13437885	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1358445	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1358446	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1358447	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs1364367	0.93[CHB][hapmap]
rs1525044	0.93[CHB][hapmap]
rs1525045	0.93[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1525046	0.93[CHB][hapmap]
rs1525047	0.93[CHB][hapmap]
rs1525049	0.93[CHB][hapmap];1.00[MEX][hapmap]
rs1614024	0.93[CHB][hapmap]
rs1615692	0.93[CHB][hapmap]
rs1627230	0.93[CHB][hapmap]
rs1628676	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1632142	0.93[CHB][hapmap]
rs1646365	0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1646366	0.93[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1646372	0.93[CHB][hapmap];1.00[MEX][hapmap]
rs1646375	0.93[CHB][hapmap];0.91[MEX][hapmap]
rs1646377	0.93[CHB][hapmap]
rs1646378	0.93[CHB][hapmap]
rs1646382	0.93[CHB][hapmap]
rs1646387	0.92[CHB][hapmap]
rs1646388	0.93[CHB][hapmap]
rs1646389	0.93[CHB][hapmap];1.00[MEX][hapmap]
rs1646390	0.92[CHB][hapmap]
rs1646393	0.93[CHB][hapmap]
rs1646397	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs1646398	0.92[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs1646399	0.95[ASN][1000 genomes]
rs1646400	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs1646401	0.93[CHB][hapmap]
rs1646402	0.93[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs17169262	0.93[CHB][hapmap]
rs1723085	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1723086	0.93[CHB][hapmap]
rs1723087	0.92[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs1723089	0.93[CHB][hapmap]
rs1723091	0.93[CHB][hapmap]
rs1723092	0.95[ASN][1000 genomes]
rs1723093	0.93[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs1723095	0.93[CHB][hapmap]
rs1723096	0.93[CHB][hapmap]
rs1723098	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1723099	0.95[ASN][1000 genomes]
rs1723100	0.93[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs1723106	0.93[CHB][hapmap]
rs1723107	0.93[CHB][hapmap]
rs1723109	0.93[CHB][hapmap]
rs1723119	0.93[CHB][hapmap]
rs1723120	0.93[CHB][hapmap]
rs1728442	0.93[CHB][hapmap]
rs1728443	0.93[CHB][hapmap];1.00[MEX][hapmap]
rs1728452	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1728476	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1728491	0.93[CHB][hapmap]
rs1728494	0.95[ASN][1000 genomes]
rs1728496	0.93[CHB][hapmap]
rs1728497	0.93[CHB][hapmap]
rs1728498	0.93[CHB][hapmap];1.00[MEX][hapmap]
rs2293546	0.82[MEX][hapmap]
rs2293547	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2293548	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2691999	0.93[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs2692002	0.93[CHB][hapmap]
rs2692006	0.93[CHB][hapmap]
rs2692007	0.93[CHB][hapmap]
rs2692008	0.93[CHB][hapmap];1.00[MEX][hapmap]
rs3857867	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467709	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs6467710	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs6957428	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6964340	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6964837	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs7781490	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs834054	0.93[CHB][hapmap];1.00[MEX][hapmap]
rs834055	0.93[CHB][hapmap]
rs834057	0.93[CHB][hapmap]
rs834058	0.93[CHB][hapmap]
rs834059	1.00[CHB][hapmap]
rs834060	0.93[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs834061	0.93[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs834062	0.93[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs834066	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs834067	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs834068	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs834070	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs834071	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs834073	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834074	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834075	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs834076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834081	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834082	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834083	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834084	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834086	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap]
rs834087	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834088	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs834089	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834091	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834092	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834093	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs834094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs834431	0.93[CHB][hapmap]
rs834432	0.93[CHB][hapmap]
rs834433	0.93[CHB][hapmap]
rs834436	0.93[CHB][hapmap]
rs864434	0.93[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs865021	0.93[CHB][hapmap]
rs883222	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs967592	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][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	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active 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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137148600-137206400	Weak transcription	Aorta	Aorta
2	chr7:137204200-137208600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:137204600-137206600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:137204600-137209400	Weak transcription	NH-A	brain
5	chr7:137205200-137206800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:137205200-137222400	Weak transcription	HSMMtube	muscle
7	chr7:137205400-137208000	Weak transcription	Fetal Heart	heart
8	chr7:137205400-137208800	Weak transcription	Fetal Brain Female	brain
9	chr7:137205600-137206800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:137205600-137206800	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr7:137205800-137206600	Strong transcription	Osteobl	bone
12	chr7:137205800-137207600	Weak transcription	Fetal Brain Male	brain
13	chr7:137206000-137206600	Strong transcription	HSMM	muscle

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