Variant report

Variant	esv17172
Chromosome Location	chr4:147329726-147332828
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	chr4:147331330..147334198-chr4:147335520..147338356,2	K562	blood:
2	chr4:147329344..147331029-chr4:147426508..147428217,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7849-3p	chr4:147329798-147329819	MIMAT0030424

Extended variants
information (count: 89 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78106140	chr4:147329740-147329741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540509688	chr4:147329772-147329773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200259185	chr4:147329778-147329779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560313426	chr4:147329796-147329797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144001291	chr4:147329807-147329808	Weak transcription Enhancers	miRNA	n/a	Overlapped CNVs	n/a
6	rs557644637	chr4:147329817-147329818	Weak transcription Enhancers	miRNA	n/a	Overlapped CNVs	n/a
7	rs192468172	chr4:147329832-147329833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563007549	chr4:147329871-147329872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182119076	chr4:147329955-147329956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550839421	chr4:147329980-147329981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17021468	chr4:147330036-147330037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs569276244	chr4:147330265-147330266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148255398	chr4:147330286-147330287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546897774	chr4:147330329-147330330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13138596	chr4:147330350-147330351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141611973	chr4:147330354-147330355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371962428	chr4:147330407-147330408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548656209	chr4:147330471-147330472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554783412	chr4:147330484-147330485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567113786	chr4:147330486-147330487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368112133	chr4:147330487-147330488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386401783	chr4:147330493-147330494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377385983	chr4:147330499-147330500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72952578	chr4:147330590-147330591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573324144	chr4:147330672-147330673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556953794	chr4:147330722-147330723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571486035	chr4:147330740-147330741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534098993	chr4:147330741-147330742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143961871	chr4:147330793-147330794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574209734	chr4:147330844-147330845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186800010	chr4:147330892-147330893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556278582	chr4:147330923-147330924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540350120	chr4:147330932-147330933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576648256	chr4:147330947-147330948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545500938	chr4:147331019-147331020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369866537	chr4:147331047-147331048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571495607	chr4:147331081-147331082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10020390	chr4:147331087-147331088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150510512	chr4:147331123-147331124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540014745	chr4:147331161-147331162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376465849	chr4:147331178-147331179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560401739	chr4:147331253-147331254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529172664	chr4:147331254-147331255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190126242	chr4:147331260-147331261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568498125	chr4:147331264-147331265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531332371	chr4:147331291-147331292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577406957	chr4:147331295-147331296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551082438	chr4:147331309-147331310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570975775	chr4:147331402-147331403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368820290	chr4:147331419-147331420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Breast cancer	21785460	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
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
2	chr4:147305000-147336600	Weak transcription	Aorta	Aorta
3	chr4:147327400-147329800	Enhancers	Stomach Mucosa	stomach
4	chr4:147328800-147330400	Enhancers	HUVEC	blood vessel
5	chr4:147329200-147330200	Enhancers	K562	blood
6	chr4:147329400-147333800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:147329400-147340000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:147329600-147332800	Weak transcription	Esophagus	oesophagus
9	chr4:147329800-147333000	Weak transcription	Stomach Mucosa	stomach

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