Variant report

Variant	rs1482378
Chromosome Location	chr2:213347104-213347105
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10166052	0.85[CHB][hapmap];0.87[ASN][1000 genomes]
rs10206719	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11678974	0.87[ASN][1000 genomes]
rs1505369	0.87[ASN][1000 genomes]
rs1505376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17325842	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1842767	0.87[ASN][1000 genomes]
rs1847671	0.89[ASN][1000 genomes]
rs2128318	0.87[ASN][1000 genomes]
rs2170529	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2371576	0.87[ASN][1000 genomes]
rs2860080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4366846	0.96[ASN][1000 genomes]
rs6711080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6723878	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs6726147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs974968	0.86[CHB][hapmap]
rs985995	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][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	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
2	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
3	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213343400-213348000	Enhancers	Fetal Heart	heart
2	chr2:213345600-213350600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:213345800-213347200	Weak transcription	Fetal Brain Female	brain
4	chr2:213346800-213347200	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:213346800-213349600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:213346800-213352400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:213347000-213347400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:213347000-213347400	Enhancers	Brain Substantia Nigra	brain
9	chr2:213347000-213347800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:213347000-213349400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:213347000-213350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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