Variant report

Variant	rs6543719
Chromosome Location	chr2:33726610-33726611
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	chr2:33724900..33727027-chr2:33748735..33751257,2	K562	blood:
2	chr2:33721073..33722993-chr2:33725616..33728253,2	K562	blood:

Variant related genes	Relation type
ENSG00000152689	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495789	0.81[JPT][hapmap]
rs6720049	0.87[EUR][1000 genomes]
rs6738641	0.90[EUR][1000 genomes]
rs719546	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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	chr2:33719000-33730200	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:33721600-33730000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:33724000-33729200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:33724000-33729400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:33724000-33729600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:33724600-33726800	Weak transcription	Right Atrium	heart
9	chr2:33724600-33729600	Weak transcription	Right Ventricle	heart
10	chr2:33725200-33727800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:33725200-33728400	Weak transcription	Fetal Heart	heart
12	chr2:33725400-33726800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:33725400-33727800	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:33725600-33728400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:33726400-33727000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
16	chr2:33726400-33728800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:33726400-33729200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:33726600-33726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:33726600-33726800	Enhancers	Lung	lung
20	chr2:33726600-33727000	Enhancers	Primary B cells from cord blood	blood
21	chr2:33726600-33727000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:33726600-33727200	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:33726600-33727200	Enhancers	Spleen	Spleen
24	chr2:33726600-33728200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:33726600-33728400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:33726600-33728800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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