Variant report

Variant	rs9678124
Chromosome Location	chr2:182046295-182046296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10153661	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1018326	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10189776	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10209191	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930961	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10930962	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12615545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12615998	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12616042	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12619531	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12620692	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12622612	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12693272	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13010713	0.90[AMR][1000 genomes]
rs13393689	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13405121	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1568257	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1996501	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2368187	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4233790	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4401183	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4439920	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4441425	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4444479	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4496291	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4514841	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4522566	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4524093	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4563183	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4666715	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4666716	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4666717	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4667083	0.81[EUR][1000 genomes]
rs4667114	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667115	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4667118	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4667127	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4667128	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667129	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667130	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4667135	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56987708	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6735551	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6740034	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6744620	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7355617	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7355751	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7561880	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580110	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7593597	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[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	nsv961739	chr2:182041759-182049669	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182031800-182050400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr2:182032400-182048400	Weak transcription	Fetal Thymus	thymus
3	chr2:182035200-182048800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:182043800-182048400	Weak transcription	GM12878-XiMat	blood
5	chr2:182043800-182053200	Weak transcription	Primary T cells from cord blood	blood
6	chr2:182044000-182054400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:182044000-182055400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:182044600-182048800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:182045000-182050600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:182045000-182053400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:182045000-182053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:182045200-182047800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:182045400-182062000	Weak transcription	Dnd41	blood

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