Variant report

Variant	rs4128689
Chromosome Location	chr12:40275306-40275307
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10506138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes]
rs10877779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11173278	0.83[CEU][hapmap]
rs11173862	1.00[CHD][hapmap]
rs11173920	0.81[AMR][1000 genomes]
rs11174266	0.89[EUR][1000 genomes]
rs11174285	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs11174292	1.00[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs11174293	1.00[CHB][hapmap]
rs11174370	1.00[CHB][hapmap]
rs11174427	1.00[CHB][hapmap]
rs12371119	1.00[CHB][hapmap]
rs4542485	0.81[AMR][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	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40262600-40280000	Weak transcription	Small Intestine	intestine
2	chr12:40273000-40278400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:40273000-40286000	Weak transcription	Pancreas	Pancrea
4	chr12:40273800-40281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:40274000-40278800	Weak transcription	Aorta	Aorta
6	chr12:40274000-40280200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:40274000-40281000	Weak transcription	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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