Variant report

Variant	rs6720049
Chromosome Location	chr2:33721929-33721930
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33721073..33722993-chr2:33725616..33728253,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495791	0.91[AFR][1000 genomes]
rs12329217	0.89[AFR][1000 genomes]
rs13391694	0.87[AFR][1000 genomes]
rs6543719	0.87[EUR][1000 genomes]
rs6737392	0.86[AFR][1000 genomes]
rs6738641	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

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:43 , 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	chr2:33714400-33726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:33717000-33722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:33717000-33723600	Weak transcription	Lung	lung
6	chr2:33718400-33722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:33718400-33724200	Weak transcription	Right Atrium	heart
8	chr2:33719000-33730200	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:33719200-33725400	Enhancers	Brain Hippocampus Middle	brain
10	chr2:33719400-33722400	Enhancers	HUVEC	blood vessel
11	chr2:33719400-33725400	Enhancers	Primary hematopoietic stem cells	blood
12	chr2:33719400-33725400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:33719600-33724000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:33719600-33724800	Enhancers	Primary B cells from cord blood	blood
15	chr2:33719800-33723000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:33720000-33722200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:33720000-33722400	Enhancers	Brain Substantia Nigra	brain
18	chr2:33720000-33722600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33720000-33725200	Enhancers	Fetal Heart	heart
20	chr2:33720200-33722000	Enhancers	Left Ventricle	heart
21	chr2:33720400-33722600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:33720800-33723800	Weak transcription	Small Intestine	intestine
23	chr2:33721000-33722400	Weak transcription	A549	lung
24	chr2:33721000-33723200	Weak transcription	Brain Anterior Caudate	brain
25	chr2:33721000-33723600	Weak transcription	Right Ventricle	heart
26	chr2:33721000-33723800	Weak transcription	NHDF-Ad	bronchial
27	chr2:33721200-33722800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:33721200-33724000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:33721400-33723800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:33721400-33723800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:33721600-33722000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr2:33721600-33722000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:33721600-33722600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:33721600-33722600	Enhancers	Psoas Muscle	Psoas
35	chr2:33721600-33724000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:33721600-33730000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:33721800-33722000	Active TSS	GM12878-XiMat	blood
38	chr2:33721800-33722200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:33721800-33722600	Enhancers	Fetal Lung	lung
40	chr2:33721800-33723600	Enhancers	Primary T cells from cord blood	blood
41	chr2:33721800-33723800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr2:33721800-33724000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:33721800-33724000	Enhancers	Monocytes-CD14+_RO01746	blood

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