Variant report

Variant	rs6707930
Chromosome Location	chr2:113737630-113737631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12328178	1.00[AMR][1000 genomes]
rs2254511	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs28947200	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs28954069	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28954070	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28954073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28954368	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3783531	1.00[MEX][hapmap]
rs73955290	1.00[AMR][1000 genomes]
rs9973878	0.82[ASW][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113733800-113739200	Enhancers	Primary T cells from cord blood	blood
2	chr2:113735200-113739000	Enhancers	Fetal Thymus	thymus
3	chr2:113736000-113747400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:113736800-113738600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:113736800-113738600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr2:113736800-113738600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:113737000-113738400	Enhancers	GM12878-XiMat	blood
8	chr2:113737000-113739200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:113737400-113738400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:113737400-113738400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr2:113737400-113738400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr2:113737400-113738600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:113737400-113742400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:113737600-113737800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:113737600-113738000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:113737600-113742600	Weak transcription	Thymus	Thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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