Variant report

Variant	rs12616115
Chromosome Location	chr2:149298053-149298054
allele	A/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: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1020468	0.81[ASN][1000 genomes]
rs10928404	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10928407	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12464036	0.88[EUR][1000 genomes]
rs12468186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12472738	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12619201	0.81[ASN][1000 genomes]
rs12997473	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12997838	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13003132	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13008203	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13010027	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13029692	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16828791	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16828816	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16828836	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16828954	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16828967	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16829006	0.81[ASN][1000 genomes]
rs16829034	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1809051	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2382231	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34210886	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34324924	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34671855	0.88[EUR][1000 genomes]
rs34881950	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35057193	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35076661	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35154707	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35168772	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36067597	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4972369	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4972375	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4972380	0.81[ASN][1000 genomes]
rs4972381	0.81[ASN][1000 genomes]
rs6430323	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709767	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6746352	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6756002	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71413623	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7571333	0.81[ASN][1000 genomes]
rs7578059	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7590549	0.81[ASN][1000 genomes]
rs7597133	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7599758	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7606475	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs764386	0.86[ASN][1000 genomes]
rs930651	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs930652	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149292800-149310400	Weak transcription	Right Atrium	heart
2	chr2:149295600-149299000	Enhancers	Fetal Thymus	thymus
3	chr2:149295800-149298600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:149295800-149299600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:149295800-149305000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:149296000-149299000	Enhancers	Thymus	Thymus
7	chr2:149296000-149299800	Enhancers	Primary T cells from cord blood	blood
8	chr2:149296600-149299800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr2:149296800-149299800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:149296800-149303000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:149297000-149303400	Weak transcription	Lung	lung
12	chr2:149297400-149298600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:149297400-149298600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:149297400-149299200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:149297600-149298400	Enhancers	Fetal Muscle Leg	muscle
16	chr2:149297600-149298400	Enhancers	GM12878-XiMat	blood
17	chr2:149297600-149298400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:149297600-149298600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr2:149297600-149298600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:149297600-149298600	Enhancers	Spleen	Spleen
21	chr2:149297600-149298800	Enhancers	Primary B cells from cord blood	blood
22	chr2:149297600-149298800	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:149297600-149298800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:149297600-149299000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:149297800-149298200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:149297800-149298200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:149297800-149298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:149297800-149298200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr2:149297800-149298200	Enhancers	Fetal Lung	lung
30	chr2:149297800-149298600	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:149297800-149298800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:149298000-149298200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr2:149298000-149298400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:149298000-149301200	Weak transcription	Pancreas	Pancrea

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