Variant report

Variant	rs11764162
Chromosome Location	chr7:103849908-103849909
allele	A/G
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	chr7:103847130-103850285	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:103846910-103850210	GM12891	blood:	n/a	n/a
4	POLR2A	chr7:103846892-103850163	K562	blood:	n/a	n/a
5	POLR2A	chr7:103847387-103849995	GM12878	blood:	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
ENSG00000228393	Chromatin interaction
ENSG00000189056	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10238218	1.00[ASN][1000 genomes]
rs10275259	0.98[ASN][1000 genomes]
rs10487190	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487191	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767680	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771398	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773044	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773664	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17324174	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17326187	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327021	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327119	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377164	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17377990	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2014811	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058722	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2299405	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2299406	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2299410	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2299412	1.00[ASN][1000 genomes]
rs2299413	1.00[ASN][1000 genomes]
rs2299414	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299415	1.00[ASN][1000 genomes]
rs2385142	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3779515	0.99[EUR][1000 genomes]
rs3779516	0.99[EUR][1000 genomes]
rs3779517	0.99[EUR][1000 genomes]
rs3808004	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808017	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4141408	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56950973	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6950715	1.00[ASN][1000 genomes]
rs6961789	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6964461	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6977598	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73189317	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73191412	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73191421	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7784705	1.00[ASN][1000 genomes]
rs7804341	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7807600	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808273	0.84[AMR][1000 genomes]
rs9656091	1.00[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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