Variant report

Variant	rs11689558
Chromosome Location	chr2:231442084-231442085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11674767	0.84[ASN][1000 genomes]
rs11679760	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11681649	0.84[ASN][1000 genomes]
rs11689413	0.81[ASN][1000 genomes]
rs11691070	0.84[ASN][1000 genomes]
rs11692958	0.84[ASN][1000 genomes]
rs11694266	0.84[ASN][1000 genomes]
rs11694317	0.84[ASN][1000 genomes]
rs2042840	1.00[YRI][hapmap]
rs2241534	0.84[ASN][1000 genomes]
rs2241536	0.84[ASN][1000 genomes]
rs2241537	0.84[ASN][1000 genomes]
rs56199999	0.84[ASN][1000 genomes]
rs56289241	0.84[ASN][1000 genomes]
rs62194774	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6720208	0.85[ASN][1000 genomes]
rs73992446	0.84[ASN][1000 genomes]
rs73992447	0.84[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	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
4	esv2763113	chr2:231441828-231445303	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231439800-231443800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr2:231440000-231442200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:231440000-231442600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr2:231440200-231443400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr2:231440600-231443400	Enhancers	Primary T cells from cord blood	blood
6	chr2:231440800-231443000	Weak transcription	GM12878-XiMat	blood
7	chr2:231440800-231443400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:231441000-231442200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:231441000-231447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:231441600-231442400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:231441800-231443400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:231442000-231443000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:231442000-231443600	Enhancers	Primary hematopoietic stem cells short term culture	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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