Variant report

Variant	rs1533051
Chromosome Location	chr11:119551498-119551499
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:119551400-119551550	GM12871	blood:	n/a	n/a

No data

(count:7 , 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	chr11:119545626..119547284-chr11:119549130..119552080,2	K562	blood:
4	chr11:119549707..119551883-chr11:119554689..119557483,2	K562	blood:
5	chr11:119551176..119553833-chr11:119555114..119557343,2	K562	blood:
6	chr11:119550355..119557178-chr11:119597809..119601667,9	MCF-7	breast:
7	chr11:119548530..119557660-chr11:119596856..119602607,12	MCF-7	breast:

No data

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10790331	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10790332	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10790335	0.82[AMR][1000 genomes]
rs1110166	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11217414	0.82[AMR][1000 genomes]
rs11825206	0.81[AMR][1000 genomes]
rs1467051	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2006949	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2015078	0.82[AMR][1000 genomes]
rs2292293	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3902806	0.82[AMR][1000 genomes]
rs3935406	0.82[AMR][1000 genomes]
rs4623916	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4936492	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4936493	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4936494	0.81[AMR][1000 genomes]
rs4936495	0.81[AMR][1000 genomes]
rs4938705	0.84[EUR][1000 genomes]
rs4938706	0.84[EUR][1000 genomes]
rs4938708	0.90[EUR][1000 genomes]
rs4938709	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4938710	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4938711	0.85[EUR][1000 genomes]
rs7110874	0.85[EUR][1000 genomes]
rs7924573	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7932832	0.80[AMR][1000 genomes]
rs7933848	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7945395	0.81[AMR][1000 genomes]
rs7945424	0.81[AMR][1000 genomes]
rs7950059	0.85[EUR][1000 genomes]
rs885429	0.81[AMR][1000 genomes]
rs906830	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119535200-119552600	Weak transcription	HepG2	liver
2	chr11:119543200-119551600	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:119545800-119551800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:119547800-119554800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:119547800-119555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:119548000-119551600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:119548000-119555000	Weak transcription	Osteobl	bone
8	chr11:119548200-119554600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:119548800-119554600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:119549000-119551600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:119549000-119554600	Weak transcription	A549	lung
12	chr11:119549000-119554800	Weak transcription	NHLF	lung
13	chr11:119549000-119555400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:119549200-119551600	Weak transcription	Liver	Liver
15	chr11:119549200-119554800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:119549400-119553800	Weak transcription	GM12878-XiMat	blood
17	chr11:119549400-119554000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:119549400-119554600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:119549400-119554600	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:119549400-119554600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:119549400-119554800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:119549400-119554800	Weak transcription	Fetal Intestine Large	intestine
23	chr11:119549400-119555000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:119549400-119555200	Weak transcription	Fetal Brain Female	brain
25	chr11:119549400-119558200	Weak transcription	Ovary	ovary
26	chr11:119549600-119551600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:119549600-119551600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:119549600-119553800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:119549600-119554000	Enhancers	Fetal Muscle Leg	muscle
30	chr11:119549600-119554600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:119549600-119554800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:119549600-119554800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:119549600-119554800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:119549600-119555000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:119549600-119555200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:119549800-119554800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:119550000-119554200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:119550000-119555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:119550000-119555400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:119550000-119556200	Enhancers	Placenta	Placenta
41	chr11:119550200-119551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:119550200-119557200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:119550200-119567400	Enhancers	Esophagus	oesophagus
44	chr11:119550400-119553800	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:119550400-119554800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:119550600-119555200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:119550800-119551600	Enhancers	Fetal Kidney	kidney
48	chr11:119550800-119551800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr11:119550800-119552200	Enhancers	Fetal Stomach	stomach
50	chr11:119550800-119552400	Enhancers	Fetal Lung	lung

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