Variant report

Variant	rs72947685
Chromosome Location	chr2:212255062-212255063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10427172	0.87[ASN][1000 genomes]
rs11888548	0.87[ASN][1000 genomes]
rs11901831	0.87[ASN][1000 genomes]
rs12619707	1.00[ASN][1000 genomes]
rs16845944	0.87[ASN][1000 genomes]
rs1821661	0.87[ASN][1000 genomes]
rs34588906	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56172792	0.87[ASN][1000 genomes]
rs58735954	0.87[ASN][1000 genomes]
rs59224996	0.93[ASN][1000 genomes]
rs60254210	0.87[ASN][1000 genomes]
rs66471203	0.87[ASN][1000 genomes]
rs66600814	0.87[ASN][1000 genomes]
rs67103742	0.89[ASN][1000 genomes]
rs72947641	0.87[ASN][1000 genomes]
rs72947669	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73083810	0.87[ASN][1000 genomes]
rs73083812	0.87[ASN][1000 genomes]
rs7571041	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv460065	chr2:212244520-212276710	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
5	nsv584315	chr2:212244520-212276710	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212245800-212256800	Weak transcription	Psoas Muscle	Psoas
2	chr2:212246800-212255400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:212248000-212255200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:212252600-212255400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:212253200-212255200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:212253200-212255400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:212254800-212255200	Enhancers	Brain Cingulate Gyrus	brain
8	chr2:212254800-212255400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:212254800-212255400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:212254800-212256400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:212255000-212255200	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr2:212255000-212256000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:212255000-212256000	Active TSS	Brain Hippocampus Middle	brain
14	chr2:212255000-212256400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:212255000-212256400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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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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