Variant report

Variant	rs7608253
Chromosome Location	chr2:64603936-64603937
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1426705	0.94[EUR][1000 genomes]
rs17028854	0.97[EUR][1000 genomes]
rs2059632	0.88[CEU][hapmap];1.00[EUR][1000 genomes]
rs2059633	1.00[EUR][1000 genomes]
rs7579725	1.00[EUR][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	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834244	chr2:64480943-64646259	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv874238	chr2:64575738-64614241	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:64595600-64627800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64600400-64610200	Weak transcription	Spleen	Spleen
3	chr2:64602000-64608200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:64602200-64604000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:64602200-64609600	Weak transcription	Psoas Muscle	Psoas
6	chr2:64602600-64604000	Weak transcription	NHEK	skin
7	chr2:64602600-64604200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:64602800-64604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:64603000-64610400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:64603400-64604000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:64603600-64604600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr2:64603800-64604400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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