Variant report

Variant	rs12286917
Chromosome Location	chr11:119862652-119862653
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	EBF1	chr11:119862477-119862700	GM12878	blood:	n/a	chr11:119862580-119862593 chr11:119862582-119862591 chr11:119862581-119862591 chr11:119862580-119862591
2	CTCF	chr11:119862620-119862770	WERI-Rb-1	eye:	n/a	chr11:119862739-119862747
3	USF1	chr11:119862468-119862953	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF2	chr11:119862628-119862791	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr11:119862485-119862902	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF7L2	chr11:119862449-119862834	HEK293	kidney:	n/a	chr11:119862629-119862638 chr11:119862626-119862642 chr11:119862630-119862640

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119599184..119600753-chr11:119861551..119864175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254863	TF binding region
ENSG00000110400	Chromatin interaction
ENSG00000254854	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11217615	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217618	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11822515	0.84[AMR][1000 genomes]
rs11822704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293370	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35034058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59415047	0.91[AMR][1000 genomes]
rs60650014	0.91[AMR][1000 genomes]
rs7110709	0.84[AMR][1000 genomes]
rs7125377	0.84[AMR][1000 genomes]
rs7125520	0.91[AMR][1000 genomes]
rs7125556	0.84[AMR][1000 genomes]
rs7131561	0.91[AMR][1000 genomes]
rs7948649	0.91[AMR][1000 genomes]
rs895654	0.91[AMR][1000 genomes]
rs895655	0.91[AMR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119856600-119863000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:119858800-119863200	Enhancers	Brain Cingulate Gyrus	brain
3	chr11:119859000-119863200	Enhancers	Brain Anterior Caudate	brain
4	chr11:119859000-119864400	Enhancers	Brain Angular Gyrus	brain
5	chr11:119859000-119867000	Enhancers	Brain Substantia Nigra	brain
6	chr11:119859000-119867600	Enhancers	Brain Hippocampus Middle	brain
7	chr11:119859000-119867600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:119860800-119864800	Enhancers	Duodenum Mucosa	Duodenum
9	chr11:119860800-119869400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:119861000-119866400	Enhancers	Esophagus	oesophagus
11	chr11:119861400-119864000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:119861600-119862800	Weak transcription	Gastric	stomach
13	chr11:119861600-119863800	Weak transcription	Fetal Intestine Small	intestine
14	chr11:119861600-119864000	Weak transcription	Right Atrium	heart
15	chr11:119861800-119863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:119861800-119864400	Weak transcription	Pancreas	Pancrea
17	chr11:119861800-119864800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:119862000-119863000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:119862000-119864400	Weak transcription	Spleen	Spleen
20	chr11:119862000-119865000	Enhancers	Fetal Muscle Leg	muscle
21	chr11:119862000-119871400	Weak transcription	Brain Germinal Matrix	brain
22	chr11:119862200-119864000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:119862600-119862800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:119862600-119862800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:119862600-119863000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
26	chr11:119862600-119863200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:119862600-119863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:119862600-119863400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:119862600-119863600	Enhancers	HUES6 Cell Line	embryonic stem cell

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