Variant report

Variant	rs501432
Chromosome Location	chr15:34257113-34257114
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr15:34256712-34257344	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr15:34256767-34257301	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr15:34257100-34257250	GM12869	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34250346..34252014-chr15:34256255..34257977,2	MCF-7	breast:
2	chr15:34057550..34059117-chr15:34255937..34257253,6	MCF-7	breast:

Variant related genes	Relation type
CHRM5	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12902206	0.80[AMR][1000 genomes]
rs2632086	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs2632095	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2702310	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34961127	0.81[ASN][1000 genomes]
rs476121	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs480616	0.86[CHB][hapmap]
rs493857	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs494935	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs499366	0.81[ASN][1000 genomes]
rs499457	0.81[ASN][1000 genomes]
rs501012	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs504714	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs505720	0.86[CHB][hapmap]
rs516625	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs529672	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs530700	0.86[CHB][hapmap]
rs535732	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs553655	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs554293	0.86[CHB][hapmap]
rs554417	0.86[CHB][hapmap]
rs557225	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs558160	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs558923	0.86[CHB][hapmap]
rs603479	0.86[CHB][hapmap]
rs606126	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs609097	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs636165	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs637055	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs638021	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs638169	0.85[CHB][hapmap]
rs652699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs661968	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs663273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs676281	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs676316	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs683470	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs683915	0.86[CHB][hapmap];0.81[CHD][hapmap]
rs684819	1.00[GIH][hapmap];0.83[AMR][1000 genomes]
rs685846	0.80[AMR][1000 genomes]
rs686966	0.86[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	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34236800-34277200	Weak transcription	Left Ventricle	heart
2	chr15:34238000-34282400	Weak transcription	Ovary	ovary
3	chr15:34252600-34260400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:34256200-34257400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:34256600-34257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:34256600-34257600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:34256600-34257600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:34256600-34260400	Weak transcription	Psoas Muscle	Psoas
9	chr15:34256800-34257600	Enhancers	Osteobl	bone

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