Variant report

Variant	rs6706054
Chromosome Location	chr2:231440867-231440868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11674767	0.82[ASN][1000 genomes]
rs11681649	0.81[ASN][1000 genomes]
rs11689413	0.83[ASN][1000 genomes]
rs11691070	0.82[ASN][1000 genomes]
rs11692958	0.81[ASN][1000 genomes]
rs11694266	0.82[ASN][1000 genomes]
rs11694317	0.82[ASN][1000 genomes]
rs2241534	0.82[ASN][1000 genomes]
rs2241536	0.82[ASN][1000 genomes]
rs2241537	0.82[ASN][1000 genomes]
rs56199999	0.82[ASN][1000 genomes]
rs56289241	0.82[ASN][1000 genomes]
rs6748830	0.83[ASN][1000 genomes]
rs73992446	0.82[ASN][1000 genomes]
rs73992447	0.82[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv875953	chr2:231415189-231457819	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875954	chr2:231421531-231441828	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv875955	chr2:231440555-231500805	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231439800-231443800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:231440000-231441000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:231440000-231441000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:231440000-231442200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:231440000-231442600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr2:231440200-231443400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:231440400-231441200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:231440600-231443400	Enhancers	Primary T cells from cord blood	blood
9	chr2:231440800-231441400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr2:231440800-231441800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:231440800-231443000	Weak transcription	GM12878-XiMat	blood
12	chr2:231440800-231443400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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