Variant report

Variant	rs56197194
Chromosome Location	chr2:33716697-33716698
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	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56262410	1.00[EUR][1000 genomes]
rs72804221	1.00[EUR][1000 genomes]
rs72804223	1.00[EUR][1000 genomes]
rs72804226	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
3	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:33712800-33718600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:33712800-33718800	Enhancers	Psoas Muscle	Psoas
6	chr2:33714200-33717800	Enhancers	Fetal Heart	heart
7	chr2:33714400-33718800	Enhancers	Left Ventricle	heart
8	chr2:33714400-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:33714600-33718600	Enhancers	Right Ventricle	heart
12	chr2:33714800-33717000	Enhancers	Lung	lung
13	chr2:33715400-33718000	Enhancers	Brain Hippocampus Middle	brain
14	chr2:33715600-33719000	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr2:33715600-33719200	Weak transcription	NHDF-Ad	bronchial
16	chr2:33715800-33716800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:33715800-33717000	Enhancers	Right Atrium	heart
18	chr2:33715800-33717400	Enhancers	Primary B cells from cord blood	blood
19	chr2:33716000-33717800	Weak transcription	Spleen	Spleen
20	chr2:33716000-33721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:33716400-33718600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:33716600-33718200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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