Variant report

Variant	rs4387319
Chromosome Location	chr11:47973603-47973604
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	chr11:47968893..47971295-chr11:47973218..47976334,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11039489	1.00[AMR][1000 genomes]
rs11039492	1.00[AMR][1000 genomes]
rs11039506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822835	1.00[AMR][1000 genomes]
rs11825374	1.00[AMR][1000 genomes]
rs12272622	1.00[AMR][1000 genomes]
rs12275893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228011	1.00[AMR][1000 genomes]
rs1228016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1228045	1.00[AMR][1000 genomes]
rs1228051	0.91[AFR][1000 genomes]
rs12288995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290640	0.91[AFR][1000 genomes]
rs12294321	1.00[AMR][1000 genomes]
rs12294477	1.00[AMR][1000 genomes]
rs1681606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2697809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2930187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2950886	0.95[AFR][1000 genomes]
rs2950889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7102191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941419	1.00[AMR][1000 genomes]
rs900700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs922959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47967400-47974000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:47968800-47975200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:47970800-47976800	Weak transcription	K562	blood
4	chr11:47970800-47989200	Weak transcription	A549	lung
5	chr11:47972400-47976800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:47972600-47976600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:47972600-47976800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:47972600-47976800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:47972600-47976800	Weak transcription	Hela-S3	cervix
10	chr11:47972800-47976600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:47973200-47976600	Weak transcription	GM12878-XiMat	blood
12	chr11:47973200-47976800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:47973200-47976800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:47973200-47976800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:47973200-47976800	Weak transcription	Spleen	Spleen
16	chr11:47973600-47975400	Enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links