Variant report

Variant	rs10774265
Chromosome Location	chr12:4816890-4816891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4815512..4817728-chr12:4824833..4826836,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10744660	0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs10849121	0.86[ASN][1000 genomes]
rs10849122	0.99[ASN][1000 genomes]
rs10849123	0.90[ASN][1000 genomes]
rs10849124	0.97[ASN][1000 genomes]
rs10849134	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs11063310	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063312	0.97[ASN][1000 genomes]
rs11063319	0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs11063323	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11614204	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12312983	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs12422704	0.81[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs1860347	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs2079776	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782743	0.81[CHB][hapmap]
rs4766284	0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs4766285	0.84[ASN][1000 genomes]
rs6489562	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489564	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs7132150	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs7307792	0.87[ASN][1000 genomes]
rs7311212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962439	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997411	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv525579	chr12:4816890-4822915	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10774265	CHD4	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4798400-4817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:4799600-4826800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:4804200-4817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:4806600-4817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:4807400-4823800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:4810000-4827200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:4810200-4817200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:4810400-4817200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:4810600-4817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr12:4811200-4833600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:4812400-4819000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:4816600-4817000	Flanking Active TSS	Liver	Liver

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