Variant report

Variant	rs12052256
Chromosome Location	chr2:182047639-182047640
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10195880	0.97[ASN][1000 genomes]
rs10204666	0.82[CHB][hapmap]
rs11676297	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13031976	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2368190	0.81[CHB][hapmap]
rs4233789	0.89[ASN][1000 genomes]
rs4305233	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4462758	0.89[ASN][1000 genomes]
rs4667117	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4667121	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667122	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433900	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6720571	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6734702	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6747797	0.82[CHB][hapmap]
rs7600236	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601042	0.80[AMR][1000 genomes];0.88[EUR][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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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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