Variant report

Variant	rs851211
Chromosome Location	chr1:223418305-223418306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223414246..223416057-chr1:223417530..223419089,2	K562	blood:
2	chr1:223413735..223416232-chr1:223417641..223419841,3	MCF-7	breast:
3	chr1:223404846..223407473-chr1:223416172..223420942,6	K562	blood:
4	chr1:223418238..223419881-chr1:223422942..223424455,2	K562	blood:
5	chr1:223307153..223307734-chr1:223417920..223418462,2	MCF-7	breast:
6	chr1:223407207..223408761-chr1:223417678..223419679,2	MCF-7	breast:
7	chr1:223405869..223408498-chr1:223417441..223419461,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1035104	0.91[ASN][1000 genomes]
rs11485987	0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11488550	1.00[TSI][hapmap]
rs3768284	1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap]
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]
rs712862	1.00[GIH][hapmap];0.85[JPT][hapmap]
rs73120300	0.91[ASN][1000 genomes]
rs851140	0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs851151	0.85[JPT][hapmap]
rs851208	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs851209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs851213	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs851215	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]
rs860372	0.95[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223407600-223419400	Weak transcription	Esophagus	oesophagus
2	chr1:223407800-223419600	Weak transcription	Right Atrium	heart
3	chr1:223413000-223420800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:223414000-223421000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:223414800-223420600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:223415200-223421000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:223417200-223423200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:223417400-223418600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr1:223417600-223418600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:223417600-223418800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:223417800-223418400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:223417800-223418400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:223418000-223418400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr1:223418000-223420200	Enhancers	K562	blood
15	chr1:223418000-223421400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:223418200-223418400	Enhancers	NHEK	skin
17	chr1:223418200-223420400	Weak transcription	Fetal Lung	lung
18	chr1:223418200-223421200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:223418200-223421400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:223418200-223421600	Weak transcription	Stomach Mucosa	stomach

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