Variant report

Variant	rs4981383
Chromosome Location	chr14:22257773-22257774
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22256716..22259521-chr14:22263376..22264997,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10131222	0.90[CEU][hapmap]
rs10144962	0.90[CEU][hapmap]
rs10145621	0.86[ASN][1000 genomes]
rs10147985	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10483257	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11157237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs11621002	0.95[CEU][hapmap]
rs11621081	0.88[CEU][hapmap]
rs11623274	0.90[CEU][hapmap]
rs11623408	0.90[CEU][hapmap]
rs11846985	0.95[CEU][hapmap]
rs12437386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12437417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12885171	0.86[CEU][hapmap]
rs12885356	0.95[CEU][hapmap]
rs12888724	0.90[CEU][hapmap]
rs12890321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12891026	0.85[CEU][hapmap]
rs12895847	0.94[CEU][hapmap]
rs12895871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap]
rs12896233	1.00[CEU][hapmap]
rs12897085	0.90[CEU][hapmap]
rs12897392	0.90[CEU][hapmap]
rs12897401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12897764	0.86[CEU][hapmap]
rs1534815	0.85[CEU][hapmap]
rs17197466	0.85[CEU][hapmap]
rs17197473	0.86[CEU][hapmap]
rs1882699	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap]
rs1978024	0.86[CEU][hapmap]
rs2010412	0.86[CEU][hapmap]
rs2017238	0.90[CEU][hapmap]
rs28542442	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4329837	0.90[CEU][hapmap]
rs4981380	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4982504	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4982509	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67908429	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7143791	0.95[CEU][hapmap];0.87[TSI][hapmap]
rs7145515	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8004645	1.00[CEU][hapmap]
rs8019263	1.00[CEU][hapmap]
rs879657	0.86[CEU][hapmap]
rs879659	0.86[CEU][hapmap]
rs9944125	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][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	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
6	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
7	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
8	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
9	esv3387723	chr14:22255284-22397765	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4981383	RIPK3	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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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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