Variant report

Variant	rs6753993
Chromosome Location	chr2:101173190-101173191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101173110..101176005-chr2:101176273..101179578,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10178491	1.00[ASN][1000 genomes]
rs10190324	1.00[ASN][1000 genomes]
rs10200086	0.82[ASN][1000 genomes]
rs1052117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11681805	0.92[ASN][1000 genomes]
rs11691661	1.00[ASN][1000 genomes]
rs12469332	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12616005	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12618862	0.90[EUR][1000 genomes]
rs12622226	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13393125	0.82[ASN][1000 genomes]
rs13418741	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1401753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1533655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1589246	1.00[JPT][hapmap]
rs17024338	1.00[JPT][hapmap]
rs2139402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2309846	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2309848	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28560372	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28673254	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28694778	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2970997	1.00[JPT][hapmap]
rs2971007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850940	1.00[ASN][1000 genomes]
rs4851332	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851333	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4851334	1.00[ASN][1000 genomes]
rs4851335	1.00[ASN][1000 genomes]
rs4851337	1.00[ASN][1000 genomes]
rs4851338	1.00[ASN][1000 genomes]
rs58420974	1.00[ASN][1000 genomes]
rs61370232	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62155213	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6542969	1.00[JPT][hapmap]
rs66689046	0.82[ASN][1000 genomes]
rs67061569	1.00[ASN][1000 genomes]
rs6739992	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746622	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6747613	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748900	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557603	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560366	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575538	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7578708	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7594904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7596475	0.99[AMR][1000 genomes];0.96[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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv961700	chr2:101160858-101173899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	esv2762269	chr2:101163732-101173190	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101170800-101173400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr2:101171200-101174000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:101171600-101177000	Weak transcription	GM12878-XiMat	blood
4	chr2:101171800-101173200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:101171800-101173400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:101171800-101178400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:101172000-101176800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:101172000-101177000	Weak transcription	Primary T cells from cord blood	blood
9	chr2:101172000-101177000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:101172200-101173200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:101172200-101177200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:101172200-101177200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:101172200-101177200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:101172400-101177800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:101172600-101177200	Weak transcription	Primary T cells fromperipheralblood	blood

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