Variant report

Variant	rs4565946
Chromosome Location	chr12:72336769-72336770
allele	C/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]
rs10748185	0.89[CEU][hapmap];0.80[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs10748186	0.89[CEU][hapmap];0.80[GIH][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs10784941	0.83[EUR][1000 genomes]
rs4448731	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs4448732	0.80[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	nsv1048478	chr12:72145703-72401712	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541530	chr12:72145703-72401712	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv518498	chr12:72307616-72508779	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1054578	chr12:72307616-72509341	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72333000-72338000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:72333000-72339800	Weak transcription	Liver	Liver
3	chr12:72335400-72336800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:72335400-72337000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:72335400-72337200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr12:72335400-72338400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:72335600-72336800	Enhancers	K562	blood
8	chr12:72336200-72336800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:72336200-72340400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:72336400-72338000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:72336400-72338000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:72336600-72338000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:72336600-72338000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:72336600-72338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:72336600-72338600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:72336600-72339200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:72336600-72340400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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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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