Variant report

Variant	rs73005293
Chromosome Location	chr2:149305197-149305198
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	chr2:149300619..149303078-chr2:149303918..149306388,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12615627	0.85[EUR][1000 genomes]
rs12620020	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12622366	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12691800	0.98[EUR][1000 genomes]
rs12691802	0.94[EUR][1000 genomes]
rs13014625	0.96[EUR][1000 genomes]
rs13014829	0.96[EUR][1000 genomes]
rs1550858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1868396	0.98[EUR][1000 genomes]
rs1868397	0.98[EUR][1000 genomes]
rs1975596	0.98[EUR][1000 genomes]
rs4609986	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4972284	0.98[EUR][1000 genomes]
rs4972376	0.96[EUR][1000 genomes]
rs4972379	0.98[EUR][1000 genomes]
rs4972382	0.98[EUR][1000 genomes]
rs4972385	0.94[EUR][1000 genomes]
rs55933306	0.85[EUR][1000 genomes]
rs56797270	1.00[EUR][1000 genomes]
rs57835656	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708007	0.96[EUR][1000 genomes]
rs73005300	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005302	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007306	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007314	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73007341	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73016733	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7579702	0.94[EUR][1000 genomes]
rs7592232	0.91[ASN][1000 genomes]
rs9287418	0.98[EUR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149292800-149310400	Weak transcription	Right Atrium	heart
2	chr2:149302400-149305400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:149302600-149306000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:149302800-149305400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:149303000-149305200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:149303000-149305200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:149303000-149305600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr2:149303200-149305200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:149303200-149305400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:149303200-149305400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:149303200-149305600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:149303200-149311000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:149304000-149305400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:149304200-149305200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:149304400-149310000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:149304400-149310400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:149304600-149305400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:149304800-149310000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:149304800-149310000	Weak transcription	Dnd41	blood
20	chr2:149304800-149310200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:149304800-149310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:149305000-149309800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:149305000-149309800	Weak transcription	Lung	lung
24	chr2:149305000-149310200	Weak transcription	Primary T cells from cord blood	blood

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