Variant report

Variant	rs11575447
Chromosome Location	chr7:50548533-50548534
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	RAD21	chr7:50548499-50548685	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr7:50548489-50548683	K562	blood:	n/a	n/a
3	CTCF	chr7:50548503-50548595	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:50548440-50548590	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr7:50548500-50548650	HRE	kidney:	n/a	n/a
6	CTCF	chr7:50548440-50548590	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr7:50548481-50548606	K562	blood:	n/a	n/a

Variant related genes	Relation type
DDC	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10499693	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575293	1.00[EUR][1000 genomes]
rs11575302	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575340	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575343	1.00[EUR][1000 genomes]
rs11575360	1.00[EUR][1000 genomes]
rs11575381	1.00[EUR][1000 genomes]
rs11575385	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575407	1.00[EUR][1000 genomes]
rs11575493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575494	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575501	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575502	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575503	1.00[EUR][1000 genomes]
rs11575504	1.00[EUR][1000 genomes]
rs11575505	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575507	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575508	1.00[EUR][1000 genomes]
rs11575510	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575511	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575512	1.00[EUR][1000 genomes]
rs11575514	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575518	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575519	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575522	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575523	1.00[EUR][1000 genomes]
rs11575527	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575537	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575540	1.00[EUR][1000 genomes]
rs11575542	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575543	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11575546	1.00[EUR][1000 genomes]
rs11575547	1.00[EUR][1000 genomes]
rs11575549	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11978797	0.92[EUR][1000 genomes]
rs11981575	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11982708	1.00[EUR][1000 genomes]
rs11982772	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11982776	0.92[EUR][1000 genomes]
rs11983581	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11983757	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12112308	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12113897	0.84[EUR][1000 genomes]
rs2329370	1.00[EUR][1000 genomes]
rs3173669	0.92[EUR][1000 genomes]
rs55869201	1.00[EUR][1000 genomes]
rs55992615	1.00[EUR][1000 genomes]
rs56030652	1.00[EUR][1000 genomes]
rs57167849	0.92[EUR][1000 genomes]
rs57835901	1.00[EUR][1000 genomes]
rs59150746	1.00[EUR][1000 genomes]
rs59828622	0.92[EUR][1000 genomes]
rs6956737	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6975312	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6978556	0.92[EUR][1000 genomes]
rs73695512	1.00[EUR][1000 genomes]
rs73695638	0.84[EUR][1000 genomes]
rs73695639	0.92[EUR][1000 genomes]
rs73695640	0.92[EUR][1000 genomes]
rs73695641	0.92[EUR][1000 genomes]
rs73695643	0.92[EUR][1000 genomes]
rs73695661	0.92[EUR][1000 genomes]
rs73695664	0.92[EUR][1000 genomes]
rs73695666	0.92[EUR][1000 genomes]
rs73695667	0.92[EUR][1000 genomes]
rs73695668	0.92[EUR][1000 genomes]
rs73695669	0.92[EUR][1000 genomes]
rs73695670	0.92[EUR][1000 genomes]
rs73695671	0.92[EUR][1000 genomes]
rs73695672	0.92[EUR][1000 genomes]
rs73695673	0.92[EUR][1000 genomes]
rs73695681	1.00[EUR][1000 genomes]
rs73695682	1.00[EUR][1000 genomes]
rs73695683	1.00[EUR][1000 genomes]
rs73695684	1.00[EUR][1000 genomes]
rs73695700	1.00[EUR][1000 genomes]
rs73695701	1.00[EUR][1000 genomes]
rs73695702	1.00[EUR][1000 genomes]
rs73697528	1.00[EUR][1000 genomes]
rs73697574	1.00[EUR][1000 genomes]
rs930707	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9942578	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50535800-50553200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:50542000-50549600	Weak transcription	Stomach Mucosa	stomach
3	chr7:50543600-50595000	Weak transcription	Liver	Liver
4	chr7:50545800-50548800	Strong transcription	Fetal Intestine Large	intestine
5	chr7:50545800-50565800	Weak transcription	HepG2	liver
6	chr7:50546000-50548800	Strong transcription	Fetal Intestine Small	intestine
7	chr7:50546600-50548800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:50548400-50549000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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