Variant report

Variant	esv3500697
Chromosome Location	chr4:152340389-152341996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152334377..152337765-chr4:152341477..152345908,4	K562	blood:
2	chr4:152337823..152339848-chr4:152340887..152343384,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189231329	chr4:152340426-152340427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2709823	chr4:152340446-152340447	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs531057370	chr4:152340479-152340480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549640193	chr4:152340481-152340482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567820370	chr4:152340489-152340490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369202771	chr4:152340577-152340578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372785947	chr4:152340589-152340590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528796108	chr4:152340638-152340639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547386263	chr4:152340643-152340644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565697740	chr4:152340663-152340664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs70941499	chr4:152340741-152340742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10010924	chr4:152340909-152340910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10013444	chr4:152341025-152341026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539526933	chr4:152341204-152341205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573815105	chr4:152341239-152341240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112668894	chr4:152341256-152341257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557598687	chr4:152341313-152341314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569832800	chr4:152341410-152341411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536889879	chr4:152341421-152341422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555548180	chr4:152341439-152341440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573553245	chr4:152341459-152341460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540950559	chr4:152341461-152341462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552933011	chr4:152341462-152341463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577642849	chr4:152341498-152341499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181125710	chr4:152341499-152341500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563671772	chr4:152341550-152341551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531041768	chr4:152341557-152341558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540935669	chr4:152341605-152341606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140105381	chr4:152341649-152341650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186565271	chr4:152341661-152341662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538491052	chr4:152341712-152341713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2724556	chr4:152341717-152341718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs60277056	chr4:152341718-152341719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527641936	chr4:152341767-152341768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142150636	chr4:152341785-152341786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189054946	chr4:152341786-152341787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180835997	chr4:152341792-152341793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2724555	chr4:152341878-152341879	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs146383172	chr4:152341962-152341963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569609709	chr4:152341974-152341975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152332000-152340400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:152332000-152347600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:152336200-152340600	Enhancers	HSMM	muscle
4	chr4:152336400-152340600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:152336600-152340400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:152336600-152340400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:152336600-152340400	Enhancers	Hela-S3	cervix
8	chr4:152336600-152340600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:152336600-152340600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:152337800-152340800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:152338200-152340400	Enhancers	HepG2	liver
12	chr4:152338200-152340600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:152338400-152340400	Enhancers	NH-A	brain
14	chr4:152338400-152340600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:152338400-152341800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:152338400-152362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:152338600-152340600	Weak transcription	Psoas Muscle	Psoas
18	chr4:152338600-152342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:152338600-152342400	Enhancers	HMEC	breast
20	chr4:152338800-152340600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:152339000-152340600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:152339200-152340600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:152339200-152340600	Enhancers	NHDF-Ad	bronchial
24	chr4:152339200-152340600	Enhancers	Osteobl	bone
25	chr4:152339400-152340400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:152339400-152340800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:152339600-152340400	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:152339600-152340400	Enhancers	Fetal Intestine Small	intestine
29	chr4:152339600-152340600	Enhancers	Fetal Intestine Large	intestine
30	chr4:152339600-152340600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:152339600-152340600	Enhancers	Small Intestine	intestine
32	chr4:152339600-152340600	Enhancers	Stomach Mucosa	stomach
33	chr4:152339800-152340400	Flanking Active TSS	NHEK	skin
34	chr4:152339800-152340600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:152339800-152340600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:152339800-152340600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:152339800-152341000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:152339800-152351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:152340000-152340400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:152340000-152340600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:152340000-152340600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr4:152340000-152342200	Enhancers	HUVEC	blood vessel
43	chr4:152340000-152349600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:152340200-152340600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:152340200-152340600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr4:152340200-152341800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:152340400-152340600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr4:152340400-152340800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr4:152340400-152341400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:152340400-152341600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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