Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:161347870-161348349	K562	blood:	n/a	n/a
2	JUND	chr6:161347806-161348257	K562	blood:	n/a	n/a
3	MAX	chr6:161347761-161348252	K562	blood:	n/a	n/a
4	MYC	chr6:161347816-161348396	K562	blood:	n/a	n/a
5	TBP	chr6:161347922-161348113	K562	blood:	n/a	n/a
6	CEBPB	chr6:161347880-161348260	K562	blood:	n/a	n/a
7	CEBPB	chr6:161347907-161348289	K562	blood:	n/a	n/a
8	EP300	chr6:161347801-161348269	K562	blood:	n/a	n/a
9	CBX3	chr6:161347729-161348278	K562	blood:	n/a	n/a
10	E2F6	chr6:161347916-161348162	K562	blood:	n/a	chr6:161348009-161348020
11	MAZ	chr6:161347908-161348065	K562	blood:	n/a	n/a
12	RCOR1	chr6:161347759-161348338	K562	blood:	n/a	n/a
13	E2F6	chr6:161347787-161348223	K562	blood:	n/a	chr6:161348009-161348020

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161346875..161349133-chr6:161350824..161353127,2	MCF-7	breast:
2	chr6:161347613..161349495-chr6:161362654..161364258,2	K562	blood:

Variant related genes	Relation type
ENSG00000231863	TF binding region
ENSG00000231863	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1247293	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247295	1.00[ASN][1000 genomes]
rs1247301	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247303	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247311	0.97[ASN][1000 genomes]
rs1247348	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247349	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247351	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247352	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247354	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247355	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247356	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1247359	1.00[ASN][1000 genomes]
rs1937467	0.86[ASN][1000 genomes]
rs1937475	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2248982	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2465845	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2489957	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2489959	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs935184	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9365233	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr6:161340000-161352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:161341400-161350800	Weak transcription	GM12878-XiMat	blood
3	chr6:161343400-161351600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:161347200-161349200	Enhancers	Placenta	Placenta
5	chr6:161347600-161348000	Enhancers	K562	blood
6	chr6:161347600-161348200	Weak transcription	Esophagus	oesophagus
7	chr6:161347600-161349200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:161347800-161348000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:161347800-161348200	Enhancers	Hela-S3	cervix
10	chr6:161347800-161348400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:161347800-161349000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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