Variant report

Variant	rs13009794
Chromosome Location	chr2:33714609-33714610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10495789	0.84[CEU][hapmap]
rs11676250	0.84[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1378725	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17013126	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17013137	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs17013166	0.88[JPT][hapmap]
rs34432178	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34530057	0.84[ASN][1000 genomes]
rs35799810	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57647413	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57665994	0.81[ASN][1000 genomes]
rs61382538	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543716	0.83[CHD][hapmap]
rs6716035	0.88[EUR][1000 genomes]
rs6736350	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6741198	0.89[EUR][1000 genomes]
rs6757351	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6758071	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6758325	0.88[CHD][hapmap]
rs765253	0.85[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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	1 gene(s)	inside rSNPs	diseases
4	esv1829750	chr2:33704194-33740571	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1798854	chr2:33708860-33720009	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	2 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	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
2	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
4	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:33712800-33718600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:33712800-33718800	Enhancers	Psoas Muscle	Psoas
7	chr2:33713200-33715400	Enhancers	Primary B cells from peripheral blood	blood
8	chr2:33713200-33715600	Enhancers	NHDF-Ad	bronchial
9	chr2:33713400-33716000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:33713600-33715000	Enhancers	Brain Hippocampus Middle	brain
11	chr2:33714000-33715200	Enhancers	Primary B cells from cord blood	blood
12	chr2:33714200-33716000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
13	chr2:33714200-33717800	Enhancers	Fetal Heart	heart
14	chr2:33714400-33715200	Enhancers	Right Atrium	heart
15	chr2:33714400-33718800	Enhancers	Left Ventricle	heart
16	chr2:33714400-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:33714600-33718600	Enhancers	Right Ventricle	heart

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