Variant report

Variant	esv2304226
Chromosome Location	chr4:95498779-95499490
allele	n/a
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	MXI1	chr4:95499289-95499858	IMR90	lung:	n/a	n/a
2	REST	chr4:95499439-95499566	Hela-S3	cervix:	n/a	n/a
3	REST	chr4:95499447-95499672	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr4:95499367-95499606	HL-60	blood:	n/a	n/a
5	REST	chr4:95499361-95499605	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95498533..95501686-chr4:95504980..95507488,3	K562	blood:
2	chr4:95372974..95374639-chr4:95498211..95500101,2	K562	blood:

Variant related genes	Relation type
PDLIM5	TF binding region
ENSG00000163110	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556537404	chr4:95498785-95498786	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376622396	chr4:95498802-95498803	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548154340	chr4:95498897-95498898	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568293739	chr4:95498901-95498902	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371329396	chr4:95498972-95498973	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76189901	chr4:95498975-95498976	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557234971	chr4:95498976-95498977	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs202216090	chr4:95499279-95499280	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200022751	chr4:95499280-95499281	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570622100	chr4:95499290-95499291	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs577440478	chr4:95499307-95499308	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs578198321	chr4:95499358-95499359	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs62316471	chr4:95499467-95499468	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559063167	chr4:95499478-95499479	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
lymphocytic leukemia	21291569	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	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
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:95484000-95507400	Weak transcription	Hela-S3	cervix
3	chr4:95489000-95507400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:95489200-95506800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr4:95489200-95507400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:95489200-95509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:95489400-95506200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:95489600-95508200	Weak transcription	GM12878-XiMat	blood
9	chr4:95489600-95522800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:95489600-95539200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:95492000-95502200	Weak transcription	Fetal Intestine Small	intestine
12	chr4:95493200-95540200	Weak transcription	Small Intestine	intestine
13	chr4:95493200-95584800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:95494000-95506200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:95495200-95506800	Weak transcription	Fetal Stomach	stomach
16	chr4:95496000-95501800	Weak transcription	Fetal Lung	lung
17	chr4:95496800-95499800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:95497000-95499800	Enhancers	Colon Smooth Muscle	Colon
19	chr4:95497200-95498800	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:95497200-95500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:95497200-95500600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:95497200-95506400	Weak transcription	Left Ventricle	heart
23	chr4:95497200-95506800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:95497200-95506800	Weak transcription	Psoas Muscle	Psoas
25	chr4:95497200-95507400	Weak transcription	Primary T cells from cord blood	blood
26	chr4:95497200-95511000	Weak transcription	Ovary	ovary
27	chr4:95497200-95512600	Weak transcription	Aorta	Aorta
28	chr4:95497200-95512600	Weak transcription	Pancreas	Pancrea
29	chr4:95497200-95513800	Weak transcription	Right Ventricle	heart
30	chr4:95497200-95516200	Weak transcription	Right Atrium	heart
31	chr4:95497200-95520000	Weak transcription	Spleen	Spleen
32	chr4:95497200-95524600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:95497200-95524600	Weak transcription	Gastric	stomach
34	chr4:95497200-95524600	Weak transcription	Lung	lung
35	chr4:95497200-95526000	Weak transcription	Brain Angular Gyrus	brain
36	chr4:95497200-95553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:95497200-95569400	Weak transcription	Esophagus	oesophagus
38	chr4:95497400-95498800	Enhancers	HUVEC	blood vessel
39	chr4:95497400-95499400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr4:95497400-95499600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:95497400-95502400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:95497400-95505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:95497400-95505000	Weak transcription	Brain Substantia Nigra	brain
44	chr4:95497400-95506000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:95497400-95506800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr4:95497400-95506800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:95497400-95506800	Weak transcription	Adipose Nuclei	Adipose
48	chr4:95497400-95507600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:95497400-95510200	Weak transcription	Fetal Kidney	kidney
50	chr4:95497400-95513600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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