Variant report

Variant	rs59630527
Chromosome Location	chr2:208913732-208913733
allele	C/T
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]
rs56780927	1.00[AMR][1000 genomes]
rs57142343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57355468	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59473875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59737997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60755294	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61011338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61089551	1.00[AMR][1000 genomes]
rs61295530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6713201	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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208907000-208913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:208912600-208915000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:208912800-208913800	Weak transcription	HMEC	breast
4	chr2:208912800-208914000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:208912800-208929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:208913200-208914000	Enhancers	Small Intestine	intestine
7	chr2:208913200-208915400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:208913400-208915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:208913400-208915200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:208913600-208914000	Enhancers	Stomach Mucosa	stomach
11	chr2:208913600-208914200	Enhancers	K562	blood
12	chr2:208913600-208915200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:208913600-208915200	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:208913600-208915200	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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