Variant report

Variant	rs62180194
Chromosome Location	chr2:182048471-182048472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11904405	1.00[ASN][1000 genomes]
rs17198619	1.00[ASN][1000 genomes]
rs4583420	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62178847	1.00[ASN][1000 genomes]
rs62178848	1.00[ASN][1000 genomes]
rs62178851	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62178852	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62178855	1.00[ASN][1000 genomes]
rs62178859	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180161	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180162	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180167	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180168	1.00[ASN][1000 genomes]
rs62180169	1.00[ASN][1000 genomes]
rs62180174	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180176	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180186	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180188	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180190	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180197	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180200	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6433896	1.00[ASN][1000 genomes]
rs6719497	1.00[ASN][1000 genomes]
rs6738120	1.00[ASN][1000 genomes]
rs6758061	1.00[ASN][1000 genomes]
rs7577144	1.00[ASN][1000 genomes]
rs7606704	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679289	1.00[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:18 , 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	chr2:182035200-182048800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:182043800-182053200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:182044000-182054400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:182044000-182055400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:182044600-182048800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:182045000-182050600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:182045000-182053400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:182045000-182053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:182045400-182062000	Weak transcription	Dnd41	blood
11	chr2:182047800-182049200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr2:182048200-182049600	Enhancers	Primary B cells from cord blood	blood
13	chr2:182048400-182048800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:182048400-182048800	Enhancers	GM12878-XiMat	blood
15	chr2:182048400-182049000	Enhancers	Fetal Thymus	thymus
16	chr2:182048400-182049600	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:182048400-182050000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:182048400-182050800	Enhancers	Primary monocytes fromperipheralblood	blood

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