Variant report

Variant	rs748519
Chromosome Location	chr2:149306450-149306451
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12623596	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12691803	0.86[EUR][1000 genomes]
rs4972372	0.89[ASN][1000 genomes]
rs4972373	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6430324	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[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	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149292800-149310400	Weak transcription	Right Atrium	heart
2	chr2:149303200-149311000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:149304400-149310000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:149304400-149310400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:149304800-149310000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:149304800-149310000	Weak transcription	Dnd41	blood
7	chr2:149304800-149310200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:149304800-149310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:149305000-149309800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:149305000-149309800	Weak transcription	Lung	lung
11	chr2:149305000-149310200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:149305200-149309800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:149305200-149310200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:149305200-149310400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:149305400-149308600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:149305400-149309600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:149305400-149310000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:149305400-149310200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:149305400-149310200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:149305600-149309800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:149305600-149309800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:149305800-149306800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:149305800-149307000	Enhancers	Fetal Lung	lung
24	chr2:149306000-149309800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:149306200-149306800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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