Variant report

Variant	rs851215
Chromosome Location	chr1:223414261-223414262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223406394..223408655-chr1:223414030..223416080,2	K562	blood:
2	chr1:223413735..223416232-chr1:223417641..223419841,3	MCF-7	breast:
3	chr1:223414246..223416057-chr1:223417530..223419089,2	K562	blood:
4	chr1:223412178..223414771-chr1:223415444..223417698,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1035104	0.98[ASN][1000 genomes]
rs11485986	1.00[EUR][1000 genomes]
rs11485987	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11488545	1.00[EUR][1000 genomes]
rs11488546	1.00[EUR][1000 genomes]
rs11488550	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2192616	1.00[EUR][1000 genomes]
rs3768284	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs5744102	1.00[EUR][1000 genomes]
rs5744135	1.00[JPT][hapmap]
rs5744138	1.00[JPT][hapmap]
rs5744139	1.00[JPT][hapmap]
rs5744140	1.00[JPT][hapmap]
rs5744143	1.00[JPT][hapmap]
rs5744149	1.00[JPT][hapmap]
rs5744151	1.00[TSI][hapmap]
rs5744153	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6675057	1.00[EUR][1000 genomes]
rs712862	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap]
rs73120300	0.98[ASN][1000 genomes]
rs851140	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs851151	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs851160	1.00[EUR][1000 genomes]
rs851208	0.81[AFR][1000 genomes]
rs851209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs851210	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs851211	0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs851213	0.88[AFR][1000 genomes]
rs860372	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]

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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223407600-223419400	Weak transcription	Esophagus	oesophagus
2	chr1:223407800-223416600	Weak transcription	Stomach Mucosa	stomach
3	chr1:223407800-223419600	Weak transcription	Right Atrium	heart
4	chr1:223408400-223417400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:223411400-223415800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:223413000-223420800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:223413600-223414800	Enhancers	Primary T cells from cord blood	blood
8	chr1:223413600-223415000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:223413600-223415200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:223413600-223415200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:223413800-223415000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:223413800-223415200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:223414000-223416000	Weak transcription	K562	blood
14	chr1:223414000-223421000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:223414200-223414400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:223414200-223414400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:223414200-223414600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:223414200-223415200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr1:223414200-223415200	Enhancers	Fetal Thymus	thymus

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