Variant report

Variant	rs2793836
Chromosome Location	chr1:120342167-120342168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120341661..120344081-chr1:120348262..120351109,2	K562	blood:
2	chr1:120341940..120344287-chr1:120345064..120347040,2	MCF-7	breast:
3	chr1:120332675..120334914-chr1:120341498..120343117,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10494231	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1052972	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10737757	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs10737758	0.90[EUR][1000 genomes]
rs10737759	0.90[EUR][1000 genomes]
rs10737760	0.90[EUR][1000 genomes]
rs10754420	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs10754421	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs10754422	0.90[EUR][1000 genomes]
rs10754423	0.89[EUR][1000 genomes]
rs10754424	0.91[EUR][1000 genomes]
rs10802134	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10802135	0.91[EUR][1000 genomes]
rs10802136	0.91[EUR][1000 genomes]
rs10802137	0.91[EUR][1000 genomes]
rs10923900	0.89[EUR][1000 genomes]
rs10923902	0.84[EUR][1000 genomes]
rs10923903	0.90[EUR][1000 genomes]
rs10923904	0.89[EUR][1000 genomes]
rs10923905	0.88[EUR][1000 genomes]
rs1163545	0.96[EUR][1000 genomes]
rs12047532	0.91[EUR][1000 genomes]
rs12566808	0.86[EUR][1000 genomes]
rs12567027	0.89[EUR][1000 genomes]
rs12567029	0.89[EUR][1000 genomes]
rs12730035	0.91[EUR][1000 genomes]
rs12747679	0.91[EUR][1000 genomes]
rs1441006	0.90[EUR][1000 genomes]
rs1441007	0.89[EUR][1000 genomes]
rs1441012	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1441013	0.91[EUR][1000 genomes]
rs1530227	0.90[EUR][1000 genomes]
rs1539071	0.91[EUR][1000 genomes]
rs1539074	0.91[EUR][1000 genomes]
rs1539075	0.91[EUR][1000 genomes]
rs17258467	0.90[EUR][1000 genomes]
rs2119470	0.91[EUR][1000 genomes]
rs2289458	0.98[ASN][1000 genomes]
rs4659236	0.90[EUR][1000 genomes]
rs4659237	0.91[EUR][1000 genomes]
rs6428841	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428843	0.85[CEU][hapmap]
rs6428844	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6661517	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6683871	0.91[EUR][1000 genomes]
rs6689072	0.89[EUR][1000 genomes]
rs6697347	0.90[EUR][1000 genomes]
rs6698813	0.91[EUR][1000 genomes]
rs6698907	0.91[EUR][1000 genomes]
rs699778	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs729234	0.97[EUR][1000 genomes]
rs7516324	0.91[EUR][1000 genomes]
rs935056	0.90[EUR][1000 genomes]
rs935057	0.90[EUR][1000 genomes]
rs935059	0.90[EUR][1000 genomes]
rs947270	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs947271	1.00[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	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	chr1:120336000-120349400	Weak transcription	Right Atrium	heart
2	chr1:120336400-120342200	Weak transcription	Spleen	Spleen
3	chr1:120340600-120348000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:120340800-120351200	Weak transcription	Fetal Intestine Large	intestine
5	chr1:120341000-120343200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:120341200-120342800	Active TSS	Pancreas	Pancrea
7	chr1:120341600-120342200	Enhancers	HepG2	liver
8	chr1:120341600-120343200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:120342000-120342200	Enhancers	Fetal Kidney	kidney
10	chr1:120342000-120342600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr1:120342000-120342800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr1:120342000-120342800	Enhancers	Fetal Thymus	thymus
13	chr1:120342000-120343400	Enhancers	Fetal Stomach	stomach

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