Variant report

Variant	rs58117702
Chromosome Location	chr11:119552339-119552340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:119552320-119552470	AG09319	gingival:	n/a	n/a
2	MAX	chr11:119552277-119552632	NB4	blood:	n/a	chr11:119552443-119552453
3	RAD21	chr11:119552300-119552594	HepG2	liver:	n/a	n/a
4	CTCF	chr11:119552320-119552470	GM12873	blood:	n/a	n/a
5	CTCF	chr11:119552300-119552450	GM12865	blood:	n/a	n/a
6	CTCF	chr11:119552300-119552450	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr11:119552300-119552493	A549	lung:	n/a	n/a
8	CTCF	chr11:119552320-119552470	HMEC	breast:	n/a	n/a
9	CTCF	chr11:119552320-119552470	AG04449	skin:	n/a	n/a
10	CTCF	chr11:119552260-119552410	GM12874	blood:	n/a	n/a
11	CTCF	chr11:119552300-119552450	RPTEC	kidney:	n/a	n/a
12	CTCF	chr11:119552320-119552470	HCFaa	heart:	n/a	n/a
13	CTCF	chr11:119552320-119552470	HCM	heart:	n/a	n/a
14	CTCF	chr11:119552320-119552470	NB4	blood:	n/a	n/a
15	RAD21	chr11:119552316-119552550	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:119552320-119552470	HepG2	liver:	n/a	n/a
17	CTCF	chr11:119552320-119552470	HMF	breast:	n/a	n/a
18	CTCF	chr11:119552260-119552410	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr11:119552300-119552450	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr11:119552337-119552521	MCF-7	breast:	n/a	n/a
21	CTCF	chr11:119552337-119552517	MCF-7	breast:	n/a	n/a
22	CTCF	chr11:119552300-119552561	NHEK	skin:	n/a	n/a
23	CTCF	chr11:119552320-119552470	HVMF	connective:	n/a	n/a
24	RAD21	chr11:119552222-119552599	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:119552280-119552430	GM12874	blood:	n/a	n/a
26	CTCF	chr11:119552320-119552470	GM12801	blood:	n/a	n/a
27	CTCF	chr11:119552302-119552588	GM12878	blood:	n/a	n/a
28	RAD21	chr11:119552319-119552568	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr11:119552308-119552498	HepG2	liver:	n/a	n/a
30	EBF1	chr11:119552284-119552591	GM12878	blood:	n/a	n/a
31	RAD21	chr11:119552259-119552541	GM12878	blood:	n/a	n/a
32	ESR1	chr11:119552015-119552389	T-47D	breast:	n/a	n/a
33	SMC3	chr11:119552307-119552575	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119551416..119553458-chr11:119566192..119569088,2	MCF-7	breast:
2	chr11:119550130..119552665-chr11:119553614..119555801,3	MCF-7	breast:
3	chr11:119551176..119553833-chr11:119555114..119557343,2	K562	blood:
4	chr11:119550355..119557178-chr11:119597809..119601667,9	MCF-7	breast:
5	chr11:119543570..119545127-chr11:119552046..119553908,2	MCF-7	breast:
6	chr11:119548530..119557660-chr11:119596856..119602607,12	MCF-7	breast:

No data

Variant related genes	Relation type
PVRL1	TF binding region
ENSG00000254854	Chromatin interaction
ENSG00000110400	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10892430	1.00[ASN][1000 genomes]
rs10892431	1.00[ASN][1000 genomes]
rs10892432	1.00[ASN][1000 genomes]
rs11217386	1.00[ASN][1000 genomes]
rs11217389	1.00[ASN][1000 genomes]
rs11217394	1.00[ASN][1000 genomes]
rs11217396	1.00[ASN][1000 genomes]
rs11217398	1.00[ASN][1000 genomes]
rs11217399	1.00[ASN][1000 genomes]
rs11217400	1.00[ASN][1000 genomes]
rs11217401	1.00[ASN][1000 genomes]
rs11217402	1.00[ASN][1000 genomes]
rs11217403	1.00[ASN][1000 genomes]
rs11217406	1.00[ASN][1000 genomes]
rs11217407	1.00[ASN][1000 genomes]
rs11217409	1.00[ASN][1000 genomes]
rs11217412	0.93[ASN][1000 genomes]
rs12222517	1.00[ASN][1000 genomes]
rs17123203	1.00[ASN][1000 genomes]
rs57088022	1.00[ASN][1000 genomes]
rs60865388	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv984471	chr11:119505802-119568473	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv898422	chr11:119518006-119601779	Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119535200-119552600	Weak transcription	HepG2	liver
2	chr11:119547800-119554800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:119547800-119555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:119548000-119555000	Weak transcription	Osteobl	bone
5	chr11:119548200-119554600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:119548800-119554600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:119549000-119554600	Weak transcription	A549	lung
8	chr11:119549000-119554800	Weak transcription	NHLF	lung
9	chr11:119549000-119555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:119549200-119554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:119549400-119553800	Weak transcription	GM12878-XiMat	blood
12	chr11:119549400-119554000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:119549400-119554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:119549400-119554600	Enhancers	Fetal Muscle Trunk	muscle
15	chr11:119549400-119554600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:119549400-119554800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:119549400-119554800	Weak transcription	Fetal Intestine Large	intestine
18	chr11:119549400-119555000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:119549400-119555200	Weak transcription	Fetal Brain Female	brain
20	chr11:119549400-119558200	Weak transcription	Ovary	ovary
21	chr11:119549600-119553800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:119549600-119554000	Enhancers	Fetal Muscle Leg	muscle
23	chr11:119549600-119554600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:119549600-119554800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:119549600-119554800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:119549600-119554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:119549600-119555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:119549600-119555200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:119549800-119554800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:119550000-119554200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:119550000-119555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:119550000-119555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr11:119550000-119556200	Enhancers	Placenta	Placenta
34	chr11:119550200-119557200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
36	chr11:119550400-119553800	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:119550400-119554800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:119550600-119555200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr11:119550800-119552400	Enhancers	Fetal Lung	lung
40	chr11:119550800-119552800	Enhancers	Spleen	Spleen
41	chr11:119550800-119559400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:119551000-119552400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:119551000-119552800	Enhancers	Stomach Mucosa	stomach
44	chr11:119551000-119553000	Enhancers	Brain Angular Gyrus	brain
45	chr11:119551000-119553800	Enhancers	Brain Germinal Matrix	brain
46	chr11:119551200-119552400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr11:119551200-119552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:119551200-119552400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:119551200-119552400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr11:119551200-119552600	Enhancers	Brain Anterior Caudate	brain

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