Variant report

Variant	rs6543714
Chromosome Location	chr2:33682603-33682604
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12999228	0.81[GIH][hapmap]
rs6719601	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7578413	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 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	chr2:33668800-33685200	Weak transcription	HUVEC	blood vessel
2	chr2:33682000-33682800	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:33682000-33682800	Enhancers	Fetal Heart	heart
4	chr2:33682000-33683400	Enhancers	Left Ventricle	heart
5	chr2:33682400-33683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:33682400-33683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:33682400-33685200	Enhancers	Liver	Liver
8	chr2:33682600-33682800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:33682600-33682800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr2:33682600-33683000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:33682600-33683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:33682600-33683200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:33682600-33683400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:33682600-33683800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr2:33682600-33683800	Enhancers	Adipose Nuclei	Adipose
16	chr2:33682600-33684000	Enhancers	Stomach Smooth Muscle	stomach

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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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