Variant report

Variant	rs2169890
Chromosome Location	chr8:11396537-11396538
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11389216..11391992-chr8:11394333..11396573,2	MCF-7	breast:
2	chr8:11394487..11397060-chr8:11401001..11403258,2	K562	blood:
3	chr8:11390853..11393388-chr8:11395895..11397560,2	K562	blood:

Variant related genes	Relation type
ENSG00000136573	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11997711	1.00[EUR][1000 genomes]
rs2127133	1.00[AMR][1000 genomes]
rs2245030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245126	1.00[EUR][1000 genomes]
rs2245260	1.00[AMR][1000 genomes]
rs2245327	1.00[AMR][1000 genomes]
rs2245337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2245454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2248791	1.00[EUR][1000 genomes]
rs2249275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252382	1.00[EUR][1000 genomes]
rs2252386	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2252407	1.00[EUR][1000 genomes]
rs2252517	1.00[EUR][1000 genomes]
rs2264304	1.00[AMR][1000 genomes]
rs2264305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264871	1.00[EUR][1000 genomes]
rs2264872	1.00[EUR][1000 genomes]
rs2264873	1.00[EUR][1000 genomes]
rs2264908	1.00[EUR][1000 genomes]
rs2448071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467522	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2618439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2618440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2618442	1.00[EUR][1000 genomes]
rs2729936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2729937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2729938	1.00[AMR][1000 genomes]
rs2736365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs931083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs931084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs931086	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv397436	chr8:11392835-11400779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11392200-11397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr8:11392400-11396800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:11392400-11397200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:11392400-11403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11395200-11397600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:11395600-11398000	Flanking Active TSS	GM12878-XiMat	blood
8	chr8:11396400-11396800	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr8:11396400-11400000	Weak transcription	Spleen	Spleen

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