Variant report

Variant	rs7134565
Chromosome Location	chr12:48630024-48630025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1018973	0.86[JPT][hapmap]
rs10492080	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs1074174	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10783231	0.86[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs10783232	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap]
rs10783237	0.90[ASN][1000 genomes]
rs10783239	0.96[ASN][1000 genomes]
rs11168451	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11168455	0.86[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11609399	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11613485	0.86[JPT][hapmap]
rs12822085	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs1387256	0.93[ASN][1000 genomes]
rs1476608	0.86[JPT][hapmap]
rs1489111	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1552551	0.93[ASN][1000 genomes]
rs17122612	0.86[JPT][hapmap]
rs17122651	0.86[JPT][hapmap]
rs1906718	0.89[ASN][1000 genomes]
rs1968071	0.86[JPT][hapmap]
rs2013956	0.88[ASN][1000 genomes]
rs2054902	0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2130095	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2258342	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2634679	0.95[JPT][hapmap]
rs2634699	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2634701	0.89[ASN][1000 genomes]
rs2732440	0.91[ASN][1000 genomes]
rs2732443	0.89[ASN][1000 genomes]
rs2732446	0.87[ASN][1000 genomes]
rs2732451	0.81[ASN][1000 genomes]
rs2732455	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2732474	0.85[ASN][1000 genomes]
rs2732475	0.85[ASN][1000 genomes]
rs2732476	0.86[ASN][1000 genomes]
rs2732477	0.90[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2732478	0.85[ASN][1000 genomes]
rs2732487	0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2932106	0.83[ASN][1000 genomes]
rs2932107	0.88[ASN][1000 genomes]
rs2956704	0.89[ASN][1000 genomes]
rs3742074	0.86[JPT][hapmap]
rs3989427	0.86[ASN][1000 genomes]
rs4075913	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4141065	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4760620	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs4760623	0.96[ASN][1000 genomes]
rs4760683	0.81[JPT][hapmap]
rs4760685	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs4760692	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4760698	0.86[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6580656	0.86[CHB][hapmap]
rs6580660	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7134201	0.89[ASN][1000 genomes]
rs726354	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs7294641	0.88[ASN][1000 genomes]
rs7296913	0.90[JPT][hapmap]
rs7304709	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7312326	0.86[JPT][hapmap]
rs7315258	0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs7485057	0.81[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap]
rs757556	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7953726	0.94[ASN][1000 genomes]
rs7963934	0.86[JPT][hapmap]
rs7969749	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7971668	0.86[JPT][hapmap]
rs879242	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs901962	0.95[JPT][hapmap]
rs901963	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs901964	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9645811	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs987986	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7134565	ZNF641	cis	cerebellum	SCAN
rs7134565	ASB8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48612200-48635600	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:48628400-48630400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:48629200-48631200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:48629600-48631000	Enhancers	Ovary	ovary
5	chr12:48629600-48633000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:48629800-48630200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:48629800-48631200	Enhancers	K562	blood

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