Variant report

Variant	rs11897247
Chromosome Location	chr2:213222353-213222354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10192514	1.00[JPT][hapmap]
rs10204716	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11891159	1.00[JPT][hapmap]
rs13018908	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2135159	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs35181450	0.93[ASN][1000 genomes]
rs35768815	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv834526	chr2:213114901-213237146	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1014680	chr2:213142147-213301614	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv460092	chr2:213165193-213222446	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv584370	chr2:213165193-213222446	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv875811	chr2:213200920-213347104	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv3149	chr2:213204282-213248966	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv584422	chr2:213214303-213270427	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1003694	chr2:213216431-213290523	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213219200-213227200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:213219200-213233600	Weak transcription	Psoas Muscle	Psoas
3	chr2:213221000-213228600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:213221200-213223600	Weak transcription	Fetal Kidney	kidney
5	chr2:213222200-213222400	Flanking Active TSS	Aorta	Aorta
6	chr2:213222200-213222600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:213222200-213222600	Active TSS	Brain Anterior Caudate	brain
8	chr2:213222200-213222600	Active TSS	Brain Hippocampus Middle	brain
9	chr2:213222200-213222600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:213222200-213222800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:213222200-213222800	Active TSS	Brain Angular Gyrus	brain
12	chr2:213222200-213222800	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:213222200-213222800	Active TSS	Brain Substantia Nigra	brain
14	chr2:213222200-213222800	Active TSS	Right Atrium	heart
15	chr2:213222200-213223600	Enhancers	Fetal Heart	heart
16	chr2:213222200-213224600	Enhancers	HepG2	liver

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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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