Variant report

Variant	rs12470632
Chromosome Location	chr2:33717791-33717792
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10495790	1.00[ASN][1000 genomes]
rs12468183	0.86[ASN][1000 genomes]
rs12468338	0.86[ASN][1000 genomes]
rs17013153	0.86[ASN][1000 genomes]
rs17013160	0.86[ASN][1000 genomes]
rs62148983	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
5	esv3457478	chr2:33716912-33727989	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457477	chr2:33717011-33728006	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3457479	chr2:33717011-33728006	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv828775	chr2:33717066-33727682	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33712800-33718600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr2:33712800-33718800	Enhancers	Psoas Muscle	Psoas
5	chr2:33714200-33717800	Enhancers	Fetal Heart	heart
6	chr2:33714400-33718800	Enhancers	Left Ventricle	heart
7	chr2:33714400-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:33714600-33718000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:33714600-33718600	Enhancers	Right Ventricle	heart
11	chr2:33715400-33718000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:33715600-33719000	Genic enhancers	Primary B cells from peripheral blood	blood
13	chr2:33715600-33719200	Weak transcription	NHDF-Ad	bronchial
14	chr2:33716000-33717800	Weak transcription	Spleen	Spleen
15	chr2:33716000-33721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:33716400-33718600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:33716600-33718200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr2:33716800-33719400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:33717000-33720200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:33717000-33722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:33717000-33723600	Weak transcription	Lung	lung
22	chr2:33717200-33721600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:33717400-33718400	Enhancers	Right Atrium	heart
24	chr2:33717400-33719600	Genic enhancers	Primary B cells from cord blood	blood
25	chr2:33717600-33718400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:33717600-33719400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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