Variant report

Variant	rs7929266
Chromosome Location	chr11:119866717-119866718
allele	C/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	CTCF	chr11:119866580-119866730	HepG2	liver:	n/a	chr11:119866665-119866674
2	CTCF	chr11:119866600-119866750	HMEC	breast:	n/a	chr11:119866665-119866674
3	CTCF	chr11:119866640-119866790	BE2_C	brain:	n/a	chr11:119866665-119866674
4	CTCF	chr11:119866600-119866750	SAEC	small airway:	n/a	chr11:119866665-119866674
5	CTCF	chr11:119866620-119866770	GM12873	blood:	n/a	chr11:119866665-119866674
6	CTCF	chr11:119866600-119866750	HCT-116	colon:	n/a	chr11:119866665-119866674
7	CTCF	chr11:119866500-119866770	NHEK	skin:	n/a	chr11:119866536-119866545 chr11:119866665-119866674 chr11:119866532-119866545
8	CTCF	chr11:119866580-119866730	GM12873	blood:	n/a	chr11:119866665-119866674
9	CTCF	chr11:119866580-119866730	GM12874	blood:	n/a	chr11:119866665-119866674
10	CTCF	chr11:119866620-119866733	MCF-7	breast:	n/a	chr11:119866665-119866674
11	CTCF	chr11:119866580-119866730	HEK293	kidney:	n/a	chr11:119866665-119866674
12	GATA3	chr11:119866651-119867471	SH-SY5Y	brain:	n/a	n/a
13	CTCF	chr11:119866580-119866730	WERI-Rb-1	eye:	n/a	chr11:119866665-119866674
14	CTCF	chr11:119866700-119866850	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:119866580-119866730	SK-N-SH_RA	brain:	n/a	chr11:119866665-119866674
16	CTCF	chr11:119866600-119866750	GM12875	blood:	n/a	chr11:119866665-119866674
17	GATA2	chr11:119866538-119867387	SH-SY5Y	brain:	n/a	chr11:119866597-119866605
18	CTCF	chr11:119866580-119866730	GM12865	blood:	n/a	chr11:119866665-119866674
19	CTCF	chr11:119866700-119866850	GM12864	blood:	n/a	n/a
20	CTCF	chr11:119866640-119866790	GM12868	blood:	n/a	chr11:119866665-119866674
21	CTCF	chr11:119866660-119866810	NHEK	skin:	n/a	chr11:119866665-119866674

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119853779..119856334-chr11:119866020..119869388,3	K562	blood:

Variant related genes	Relation type
ENSG00000254863	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11825700	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035918	chr11:119853069-119879255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119859000-119867000	Enhancers	Brain Substantia Nigra	brain
2	chr11:119859000-119867600	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119859000-119867600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:119860800-119869400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:119862000-119871400	Weak transcription	Brain Germinal Matrix	brain
6	chr11:119864200-119867600	Enhancers	Brain Cingulate Gyrus	brain
7	chr11:119864800-119871600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:119865600-119867000	Enhancers	Brain Anterior Caudate	brain
9	chr11:119866200-119866800	Enhancers	HMEC	breast
10	chr11:119866400-119880200	Weak transcription	Esophagus	oesophagus
11	chr11:119866600-119868400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:119866600-119871600	Weak transcription	Brain Angular Gyrus	brain

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