Variant report

Variant	rs1996501
Chromosome Location	chr2:182029358-182029359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10153661	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018326	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10189776	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10209191	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10930961	0.88[EUR][1000 genomes]
rs10930962	0.89[EUR][1000 genomes]
rs12615545	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12615998	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12616042	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12619531	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12620692	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12622612	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12693272	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13010713	0.86[AMR][1000 genomes]
rs13393689	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13405121	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1568257	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1949453	0.82[CHB][hapmap]
rs2368187	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233790	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4401183	0.89[EUR][1000 genomes]
rs4439920	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4441425	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4444479	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4496291	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4508560	0.82[CHB][hapmap]
rs4514841	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4522566	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4524093	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4563183	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4666715	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4666716	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4666717	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667083	0.87[EUR][1000 genomes]
rs4667114	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667115	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667118	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667127	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667128	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667129	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667130	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667135	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56987708	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6729509	0.82[CHB][hapmap]
rs6735551	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6740034	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6744620	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7355617	0.89[EUR][1000 genomes]
rs7355751	0.89[EUR][1000 genomes]
rs7561880	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7580110	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7593597	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9678124	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182021200-182030000	Weak transcription	Thymus	Thymus
2	chr2:182026000-182029600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:182026800-182029600	Enhancers	GM12878-XiMat	blood
4	chr2:182027000-182029800	Enhancers	Primary T cells from cord blood	blood
5	chr2:182027400-182029800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:182027600-182029600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:182027600-182029600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:182027600-182030000	Enhancers	Primary B cells from cord blood	blood
9	chr2:182027800-182029600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:182027800-182029800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:182027800-182029800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:182027800-182030800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:182027800-182030800	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:182027800-182030800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:182028000-182029600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:182028000-182030600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:182028200-182029800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:182028200-182029800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:182028200-182029800	Weak transcription	Fetal Thymus	thymus
20	chr2:182028200-182030000	Weak transcription	Dnd41	blood
21	chr2:182028600-182029600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:182028600-182029600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr2:182028600-182029600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:182028600-182029800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:182028600-182029800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:182028600-182030000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:182028800-182029800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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