Variant report

Variant	rs12434017
Chromosome Location	chr14:22244977-22244978
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11157207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11157208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11157210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11157211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12432330	1.00[CEU][hapmap]
rs12434035	1.00[CEU][hapmap]
rs12435882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12436913	1.00[CEU][hapmap]
rs12586435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12587357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12587521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12588259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12589289	1.00[CEU][hapmap]
rs17182782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34258387	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35342879	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35978792	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982490	0.85[EUR][1000 genomes]
rs4982497	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982499	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982500	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982502	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4982503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57353658	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61484129	0.93[ASN][1000 genomes]
rs61678561	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs766737	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs766738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8006784	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv563852	chr14:22205447-22344160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv901480	chr14:22221211-22255090	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1037902	chr14:22229021-22354103	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv832741	chr14:22235781-22413637	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv456148	chr14:22242293-22292805	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv563853	chr14:22242293-22292805	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12434017	RIPK3	cis	cerebellum	SCAN
rs12434017	CBLN3	cis	parietal	SCAN
rs12434017	CMA1	cis	cerebellum	SCAN
rs12434017	RBM23	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22237400-22245000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:22244400-22245400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:22244400-22245600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr14:22244600-22245400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:22244600-22245400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:22244800-22245600	Enhancers	HUES64 Cell Line	embryonic stem cell

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