Variant report

Variant	rs7599914
Chromosome Location	chr2:190487150-190487151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10931427	1.00[AMR][1000 genomes]
rs4667291	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60339626	1.00[AMR][1000 genomes]
rs7562466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7570328	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 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	chr2:190479000-190503800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:190484000-190490600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:190484400-190489400	Weak transcription	HepG2	liver
4	chr2:190484400-190493800	Weak transcription	A549	lung
5	chr2:190484600-190494400	Weak transcription	HUVEC	blood vessel
6	chr2:190485600-190489400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:190485800-190489000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:190485800-190489000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:190486200-190494400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:190486800-190487200	Weak transcription	Stomach Mucosa	stomach
11	chr2:190486800-190487200	Enhancers	K562	blood
12	chr2:190487000-190487200	Enhancers	Primary T helper 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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