Variant report

Variant	esv3429055
Chromosome Location	chr4:99180179-99180462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:99180419-99184597	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr4:99180251-99183139	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:99180313-99182895	SK-N-MC	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99169147..99171084-chr4:99176723..99180239,3	K562	blood:
2	chr20:55837025..55838965-chr4:99178641..99181460,2	MCF-7	breast:
3	chr4:99166826..99169265-chr4:99180288..99182314,2	MCF-7	breast:
4	chr4:99063087..99065504-chr4:99179455..99182247,2	MCF-7	breast:
5	chr4:99062262..99068404-chr4:99178848..99183768,9	MCF-7	breast:
6	chr4:99180005..99182414-chr4:99204613..99206874,2	K562	blood:
7	chr4:99076051..99077551-chr4:99180191..99182364,2	MCF-7	breast:
8	chr4:99177008..99180462-chr4:99180782..99182422,3	K562	blood:

No data

Variant related genes	Relation type
RAP1GDS1	TF binding region
ENSG00000163116	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115824757	chr4:99180182-99180183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555431929	chr4:99180194-99180195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553721954	chr4:99180207-99180208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544933872	chr4:99180224-99180225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538961988	chr4:99180261-99180262	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs61041466	chr4:99180366-99180367	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548327294	chr4:99180395-99180396	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572223294	chr4:99180425-99180426	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99164400-99180600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99171600-99181000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:99174800-99180800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:99175000-99180400	Weak transcription	Liver	Liver
5	chr4:99175600-99180600	Weak transcription	HepG2	liver
6	chr4:99175800-99180600	Weak transcription	Brain Anterior Caudate	brain
7	chr4:99176600-99180600	Weak transcription	Fetal Brain Male	brain
8	chr4:99178400-99180600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:99179600-99180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:99179600-99180600	Enhancers	Dnd41	blood
11	chr4:99179800-99180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:99179800-99180600	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:99179800-99180600	Enhancers	Fetal Heart	heart
14	chr4:99180000-99180400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:99180000-99180400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:99180200-99181000	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:99180400-99180600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:99180400-99180600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:99180400-99180600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:99180400-99180600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:99180400-99180600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:99180400-99180600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:99180400-99180600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:99180400-99180600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:99180400-99180600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:99180400-99180600	Enhancers	Primary T cells from cord blood	blood
27	chr4:99180400-99180600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr4:99180400-99180600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:99180400-99180600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:99180400-99180600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:99180400-99180600	Enhancers	Adipose Nuclei	Adipose
32	chr4:99180400-99180600	Enhancers	Brain Angular Gyrus	brain
33	chr4:99180400-99180600	Enhancers	Brain Germinal Matrix	brain
34	chr4:99180400-99180600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:99180400-99180600	Enhancers	Colon Smooth Muscle	Colon
36	chr4:99180400-99180600	Enhancers	Duodenum Mucosa	Duodenum
37	chr4:99180400-99180600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr4:99180400-99180600	Enhancers	Fetal Kidney	kidney
39	chr4:99180400-99180600	Enhancers	Ovary	ovary
40	chr4:99180400-99180600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr4:99180400-99180600	Enhancers	Rectal Smooth Muscle	rectum
42	chr4:99180400-99180600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr4:99180400-99180600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:99180400-99180600	Enhancers	Stomach Smooth Muscle	stomach
45	chr4:99180400-99180600	Enhancers	GM12878-XiMat	blood
46	chr4:99180400-99180600	Enhancers	HMEC	breast
47	chr4:99180400-99180600	Enhancers	HSMM	muscle
48	chr4:99180400-99180600	Enhancers	NH-A	brain
49	chr4:99180400-99180600	Enhancers	Osteobl	bone
50	chr4:99180400-99180800	Enhancers	H1 Cell Line	embryonic stem cell

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