Variant report

Variant	rs2747507
Chromosome Location	chr6:15092665-15092666
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	BHLHE40	chr6:15092585-15092784	K562	blood:	n/a	chr6:15092638-15092647 chr6:15092638-15092647

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15085986..15094450-chr6:15243173..15249347,32	MCF-7	breast:
2	chr6:15091017..15092854-chr6:15217846..15219401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234261	TF binding region
ENSG00000008083	Chromatin interaction
ENSG00000271888	Chromatin interaction
ENSG00000235488	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10949273	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12524376	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12524746	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1739085	0.83[AMR][1000 genomes]
rs1739086	0.83[AMR][1000 genomes]
rs1739087	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1739091	1.00[ASW][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1770339	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1770340	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1980528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2474109	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2474110	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2474111	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2474112	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2486914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2486915	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2486916	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2486917	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2747489	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2747492	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2747494	0.87[AMR][1000 genomes]
rs2747506	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791609	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2791610	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2791623	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2791624	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2791625	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2994318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35821948	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9476742	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9476752	0.82[CEU][hapmap]
rs9476753	1.00[CEU][hapmap];1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830593	chr6:15049636-15244190	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15083800-15093000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:15087400-15117600	Weak transcription	Right Atrium	heart
3	chr6:15090200-15092800	Weak transcription	Esophagus	oesophagus
4	chr6:15090400-15092800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr6:15090400-15094200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:15090400-15109000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:15090800-15096800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:15091800-15093200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr6:15091800-15093200	Enhancers	K562	blood
10	chr6:15092600-15093200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:15092600-15093400	Enhancers	Placenta	Placenta

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