Variant report

Variant	rs7781828
Chromosome Location	chr7:103849607-103849608
allele	C/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	POLR2A	chr7:103846735-103849911	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:103846546-103849823	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:103847130-103850285	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:103846910-103850210	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:103846892-103850163	K562	blood:	n/a	n/a
6	MXI1	chr7:103846895-103849833	SK-N-SH	brain:	n/a	n/a
7	E2F4	chr7:103849515-103849681	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr7:103847387-103849995	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:103848179-103849620	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103628555..103630772-chr7:103847007..103849982,2	K562	blood:
2	chr7:103848404..103850130-chr7:104653038..104655393,2	MCF-7	breast:

Variant related genes	Relation type
ORC5	TF binding region
ENSG00000189056	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000239569	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1035169	0.94[ASN][1000 genomes]
rs10808128	0.94[ASN][1000 genomes]
rs10953408	0.94[ASN][1000 genomes]
rs12056186	0.88[ASN][1000 genomes]
rs12056191	0.90[ASN][1000 genomes]
rs12705181	0.90[ASN][1000 genomes]
rs12705187	0.90[ASN][1000 genomes]
rs12705190	0.87[ASN][1000 genomes]
rs12705195	0.94[ASN][1000 genomes]
rs13230700	0.90[ASN][1000 genomes]
rs13238183	0.91[ASN][1000 genomes]
rs193888	0.87[ASN][1000 genomes]
rs194841	0.81[ASN][1000 genomes]
rs194846	0.81[ASN][1000 genomes]
rs194847	0.81[ASN][1000 genomes]
rs194849	0.81[ASN][1000 genomes]
rs194867	0.81[ASN][1000 genomes]
rs2160397	0.89[ASN][1000 genomes]
rs2245659	0.94[ASN][1000 genomes]
rs2299409	0.83[ASN][1000 genomes]
rs2299411	0.94[ASN][1000 genomes]
rs2385140	0.87[ASN][1000 genomes]
rs35034355	0.94[ASN][1000 genomes]
rs3757734	0.91[ASN][1000 genomes]
rs3779518	0.94[ASN][1000 genomes]
rs3808008	0.83[ASN][1000 genomes]
rs4140860	0.90[ASN][1000 genomes]
rs4265123	0.85[ASN][1000 genomes]
rs4265124	0.87[ASN][1000 genomes]
rs4385404	0.85[ASN][1000 genomes]
rs4461830	0.87[ASN][1000 genomes]
rs62485910	0.89[ASN][1000 genomes]
rs6948583	0.94[ASN][1000 genomes]
rs6961262	0.83[ASN][1000 genomes]
rs6967757	0.90[ASN][1000 genomes]
rs765408	0.87[ASN][1000 genomes]

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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 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	chr7:103847600-103850000	Active TSS	Psoas Muscle	Psoas
2	chr7:103849000-103850200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:103849000-103850200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:103849200-103850800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:103849600-103850400	Enhancers	Rectal Mucosa Donor 31	rectum

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