Variant report

Variant	rs13010713
Chromosome Location	chr2:181996045-181996046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10153661	0.88[AMR][1000 genomes]
rs1018326	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10189776	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10209191	0.85[AMR][1000 genomes]
rs12615545	0.90[AMR][1000 genomes]
rs12615998	0.85[AMR][1000 genomes]
rs12616042	0.85[AMR][1000 genomes]
rs12619531	0.85[AMR][1000 genomes]
rs12620692	0.89[AMR][1000 genomes]
rs12622612	0.88[AMR][1000 genomes]
rs12693272	0.84[AMR][1000 genomes]
rs13393689	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs13405121	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1543177	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1568257	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1949453	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1996501	0.86[AMR][1000 genomes]
rs2368187	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4233790	0.85[AMR][1000 genomes]
rs4299301	0.86[CHB][hapmap]
rs4439920	0.85[AMR][1000 genomes]
rs4441425	0.85[AMR][1000 genomes]
rs4444479	0.85[AMR][1000 genomes]
rs4496291	0.82[AMR][1000 genomes]
rs4508560	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4514841	0.90[AMR][1000 genomes]
rs4522566	0.85[AMR][1000 genomes]
rs4524093	0.84[AMR][1000 genomes]
rs4563183	0.85[AMR][1000 genomes]
rs4666715	0.85[AMR][1000 genomes]
rs4666716	0.85[AMR][1000 genomes]
rs4666717	0.84[AMR][1000 genomes]
rs4667083	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667114	0.89[AMR][1000 genomes]
rs4667115	0.89[AMR][1000 genomes]
rs4667118	0.89[AMR][1000 genomes]
rs4667127	0.85[AMR][1000 genomes]
rs4667128	0.85[AMR][1000 genomes]
rs4667129	0.85[AMR][1000 genomes]
rs4667130	0.85[AMR][1000 genomes]
rs4667135	0.82[AMR][1000 genomes]
rs56987708	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433894	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs66912914	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6729509	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6729682	0.83[ASN][1000 genomes]
rs6731186	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6735551	0.89[AMR][1000 genomes]
rs6740034	0.89[AMR][1000 genomes]
rs6744620	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7561880	0.82[AMR][1000 genomes]
rs7580110	0.85[AMR][1000 genomes]
rs7588217	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7593597	0.85[AMR][1000 genomes]
rs908733	0.81[ASN][1000 genomes]
rs9678124	0.90[AMR][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

Variant related diseases (count:1)

Disease	PMID	Source
Celiac disease	20190752	GWAS catalog

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181991400-181996200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:181993200-181996200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr2:181995600-181996600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr2:181995600-181996600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:181995600-181996600	Enhancers	Dnd41	blood
6	chr2:181995600-181996800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:181995800-181996200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:181995800-181996200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr2:181996000-181996200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr2:181996000-181996200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:181996000-181996400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr2:181996000-181996400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr2:181996000-181996400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:181996000-181996600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr2:181996000-181996600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:181996000-181996600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:181996000-181996600	Enhancers	Fetal Thymus	thymus
18	chr2:181996000-181996600	Enhancers	GM12878-XiMat	blood

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