Variant report

Variant	rs12615224
Chromosome Location	chr2:149297441-149297442
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	chr2:149291312..149293367-chr2:149296532..149298461,2	K562	blood:
2	chr2:149294626..149297219-chr2:149297327..149299085,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10928400	0.90[EUR][1000 genomes]
rs12470026	0.88[EUR][1000 genomes]
rs13003024	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13009428	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13022094	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424199	0.84[EUR][1000 genomes]
rs16828786	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16828790	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4284768	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4972281	0.88[EUR][1000 genomes]
rs4972377	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972378	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61315601	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705361	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717865	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717985	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7564206	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592536	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149292600-149297600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:149292600-149297600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:149292800-149297600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:149292800-149310400	Weak transcription	Right Atrium	heart
5	chr2:149293000-149297800	Weak transcription	Fetal Lung	lung
6	chr2:149295600-149298000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:149295600-149299000	Enhancers	Fetal Thymus	thymus
8	chr2:149295800-149297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:149295800-149297600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:149295800-149297800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:149295800-149297800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:149295800-149298600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:149295800-149299600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:149295800-149305000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:149296000-149299000	Enhancers	Thymus	Thymus
16	chr2:149296000-149299800	Enhancers	Primary T cells from cord blood	blood
17	chr2:149296600-149299800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:149296800-149298000	Enhancers	Pancreas	Pancrea
19	chr2:149296800-149299800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:149296800-149303000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:149297000-149303400	Weak transcription	Lung	lung
22	chr2:149297400-149297600	Bivalent Enhancer	HepG2	liver
23	chr2:149297400-149297800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:149297400-149298600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:149297400-149298600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr2:149297400-149299200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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