Variant report

Variant	rs16969672
Chromosome Location	chr15:40004371-40004372
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40002140..40004619-chr15:40006092..40009009,2	K562	blood:
2	chr15:40004259..40006236-chr15:40010388..40013115,2	MCF-7	breast:
3	chr15:39984467..39987996-chr15:40003626..40006912,3	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1051442	1.00[CHB][hapmap]
rs10520141	1.00[CHB][hapmap]
rs10520143	1.00[CHB][hapmap]
rs10520146	1.00[CHB][hapmap]
rs10520147	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10520148	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10520149	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs1073675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12324669	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs1382443	1.00[CHB][hapmap]
rs1382444	1.00[CHB][hapmap]
rs16969167	1.00[CHB][hapmap]
rs16969487	1.00[CHB][hapmap]
rs16969491	1.00[CHB][hapmap]
rs16969547	1.00[CHB][hapmap];0.93[YRI][hapmap]
rs16969662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16969663	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16969664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16969666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16969679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16969680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16969688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs16969692	1.00[YRI][hapmap]
rs16969701	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs16969702	1.00[YRI][hapmap]
rs16969718	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs16969723	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs16969724	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs17633107	1.00[CHB][hapmap]
rs17633210	1.00[CHB][hapmap]
rs17705806	1.00[CHB][hapmap]
rs17706083	1.00[CHB][hapmap]
rs17706179	1.00[CHB][hapmap]
rs17717859	1.00[CHB][hapmap]
rs1994380	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs2129455	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs2129457	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs2171309	0.94[YRI][hapmap]
rs2228262	1.00[CHB][hapmap]
rs2228263	1.00[CHB][hapmap]
rs2411316	1.00[CHB][hapmap]
rs2618161	1.00[CHB][hapmap]
rs2618167	1.00[CHB][hapmap]
rs2664138	1.00[CHB][hapmap]
rs28625134	1.00[ASN][1000 genomes]
rs28626090	1.00[ASN][1000 genomes]
rs4415979	1.00[CHB][hapmap]
rs4503768	1.00[CHB][hapmap]
rs4923835	1.00[CHB][hapmap]
rs4923838	1.00[CEU][hapmap]
rs4923840	1.00[ASN][1000 genomes]
rs55674415	1.00[ASN][1000 genomes]
rs55899942	1.00[ASN][1000 genomes]
rs56862147	1.00[ASN][1000 genomes]
rs58878379	1.00[ASN][1000 genomes]
rs59628570	1.00[ASN][1000 genomes]
rs60613947	1.00[ASN][1000 genomes]
rs6492905	1.00[CHB][hapmap]
rs7171057	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs7172155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs7172346	0.80[CEU][hapmap];0.94[YRI][hapmap]
rs7173948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7179604	1.00[CHB][hapmap]
rs7180740	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs7181354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7181875	1.00[ASN][1000 genomes]
rs7182423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7183462	0.93[YRI][hapmap]
rs72727047	1.00[ASN][1000 genomes]
rs72727060	1.00[ASN][1000 genomes]
rs74008680	1.00[ASN][1000 genomes]
rs8041266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs880270	1.00[CHB][hapmap]
rs937961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs937962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9972350	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39999800-40004400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:40000200-40005400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:40001200-40004800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:40001200-40011800	Weak transcription	NHDF-Ad	bronchial
5	chr15:40003600-40011200	Weak transcription	Osteobl	bone

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