Variant report

Variant	rs12615998
Chromosome Location	chr2:182062794-182062795
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10153661	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1018326	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10189776	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10209191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930961	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10930962	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12615545	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12616042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12620692	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12622612	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12693272	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13010713	0.85[AMR][1000 genomes]
rs13393689	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13405121	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1568257	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1996501	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2368187	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4233790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4324288	0.88[ASN][1000 genomes]
rs4401183	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4439920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4441425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4444479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496291	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514841	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4522566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4524093	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4563183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4666716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4666717	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667083	0.81[EUR][1000 genomes]
rs4667114	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667115	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667118	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667135	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56987708	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6735551	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6740034	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6744620	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7355617	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7355751	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7561880	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9678124	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1010652	chr2:182062142-182065110	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182050800-182063400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:182056600-182068000	Weak transcription	HSMMtube	muscle
3	chr2:182059800-182064400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:182060000-182064400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:182060200-182064800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:182060400-182064000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:182061000-182063200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr2:182061000-182064000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr2:182061000-182064800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr2:182061000-182065800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:182061200-182064400	Enhancers	Primary T cells from cord blood	blood
12	chr2:182061400-182063800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:182061800-182064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:182061800-182064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:182062000-182063400	Enhancers	Dnd41	blood
16	chr2:182062000-182063800	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:182062400-182063000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:182062400-182063600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:182062400-182063600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr2:182062600-182063000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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