Variant report

Variant	rs11217402
Chromosome Location	chr11:119562356-119562357
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	CTCF	chr11:119562260-119562410	HCM	heart:	n/a	n/a
2	STAT3	chr11:119562292-119563057	MCF10A-Er-Src	breast:	n/a	chr11:119562581-119562589 chr11:119562590-119562601 chr11:119563035-119563047
3	RAD21	chr11:119562064-119562419	HepG2	liver:	n/a	chr11:119562202-119562215 chr11:119562199-119562218 chr11:119562204-119562216 chr11:119562204-119562214
4	CTCF	chr11:119562260-119562410	HFF-Myc	foreskin:	n/a	n/a
5	CTCF	chr11:119562320-119562470	HEEpiC	esophagus:	n/a	n/a
6	STAT3	chr11:119562183-119563047	MCF10A-Er-Src	breast:	n/a	chr11:119562581-119562589 chr11:119562285-119562296 chr11:119562228-119562240 chr11:119562590-119562601 chr11:119563035-119563047
7	POLR2A	chr11:119561619-119562410	HL-60	blood:	n/a	n/a
8	CTCF	chr11:119562240-119562390	HRPEpiC	eye:	n/a	n/a
9	STAT3	chr11:119562267-119563059	MCF10A-Er-Src	breast:	n/a	chr11:119562581-119562589 chr11:119562285-119562296 chr11:119562590-119562601 chr11:119563035-119563047

No.	Distal block	Cell Line	Cell type
1	chr11:119561073..119563172-chr11:119565321..119568250,2	K562	blood:
2	chr11:119556235..119560513-chr11:119562313..119564680,4	K562	blood:
3	chr11:119561359..119563599-chr11:119570255..119571810,2	K562	blood:
4	chr11:119547483..119549094-chr11:119561602..119563643,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10892430	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10892431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10892432	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217389	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217394	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217395	1.00[AFR][1000 genomes]
rs11217396	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217400	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217401	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217406	1.00[ASN][1000 genomes]
rs11217407	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11217409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11217412	0.93[ASN][1000 genomes]
rs12222517	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12577411	1.00[AFR][1000 genomes]
rs12577412	1.00[AFR][1000 genomes]
rs17123203	1.00[ASN][1000 genomes]
rs57088022	1.00[ASN][1000 genomes]
rs58117702	1.00[ASN][1000 genomes]
rs60865388	1.00[AFR][1000 genomes];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	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
2	chr11:119551600-119567400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:119553800-119565200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:119554600-119566400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:119555200-119562600	Enhancers	HMEC	breast
6	chr11:119555600-119563000	Weak transcription	Gastric	stomach
7	chr11:119555800-119563000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:119555800-119563800	Weak transcription	Small Intestine	intestine
9	chr11:119555800-119564200	Weak transcription	Stomach Mucosa	stomach
10	chr11:119555800-119568800	Weak transcription	Left Ventricle	heart
11	chr11:119556000-119568600	Weak transcription	Right Atrium	heart
12	chr11:119556000-119571600	Weak transcription	NHLF	lung
13	chr11:119556600-119564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:119556600-119565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:119558200-119562400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:119558800-119562600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:119559000-119567200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:119559400-119563400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:119559400-119566200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:119559800-119570200	Enhancers	Fetal Thymus	thymus
21	chr11:119560000-119564400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:119560400-119562600	Weak transcription	Pancreas	Pancrea
23	chr11:119560400-119564000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:119560400-119566400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:119560400-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:119560400-119569600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:119560600-119562400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:119560800-119562800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr11:119561000-119562400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:119561000-119562400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:119561000-119565600	Enhancers	Thymus	Thymus
32	chr11:119561000-119580600	Weak transcription	Fetal Kidney	kidney
33	chr11:119561200-119562400	Enhancers	Primary T cells from cord blood	blood
34	chr11:119561200-119562400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:119561200-119562400	Enhancers	Dnd41	blood
36	chr11:119561200-119562600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:119561200-119562600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:119561200-119562800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:119561200-119567800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:119561400-119562400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr11:119561400-119562400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:119561400-119563600	Weak transcription	Placenta	Placenta
43	chr11:119561400-119565400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:119561400-119565400	Enhancers	Brain Germinal Matrix	brain
45	chr11:119561400-119566400	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:119561400-119568800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr11:119561600-119562400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:119561600-119562400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:119561600-119562400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr11:119561600-119562400	Enhancers	HepG2	liver

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