Variant report

Variant	rs13250815
Chromosome Location	chr8:130443367-130443368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130443086..130445932-chr8:130472163..130473857,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10100977	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10103083	0.94[ASN][1000 genomes]
rs10105579	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808579	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808580	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1118872	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1124682	0.94[ASN][1000 genomes]
rs11782132	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11787238	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545968	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1465680	0.94[ASN][1000 genomes]
rs1583247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1594596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835848	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1963881	0.85[ASN][1000 genomes]
rs2007003	0.85[ASN][1000 genomes]
rs2012753	0.88[ASN][1000 genomes]
rs2579865	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2630514	0.87[EUR][1000 genomes]
rs2719203	0.86[EUR][1000 genomes]
rs2719212	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4733549	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733707	0.94[ASN][1000 genomes]
rs56678522	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995168	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7015941	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744652	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7828064	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7828127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891833	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9694939	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976912	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs985688	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429942	chr8:130397818-130460011	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv6394	chr8:130421502-130446035	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3498936	chr8:130434070-130444018	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3498939	chr8:130434470-130444018	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130427000-130449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130434800-130443800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:130436400-130443800	Weak transcription	Thymus	Thymus
4	chr8:130436600-130443800	Weak transcription	K562	blood
5	chr8:130440000-130443400	Weak transcription	Dnd41	blood
6	chr8:130443200-130443600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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