Variant report

Variant	nsv878749
Chromosome Location	chr4:21189870-21236883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1131 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17448392	chr4:21189870-21189871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143499543	chr4:21189909-21189910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148026497	chr4:21189937-21189938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558495293	chr4:21189940-21189941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569668264	chr4:21189979-21189980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377313193	chr4:21190042-21190043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114816678	chr4:21190108-21190109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527402081	chr4:21190118-21190119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144897608	chr4:21190136-21190137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555151886	chr4:21190169-21190170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1364838	chr4:21190191-21190192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76122277	chr4:21190210-21190211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140837524	chr4:21190211-21190212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373021474	chr4:21190295-21190296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190029046	chr4:21190298-21190299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577425113	chr4:21190320-21190321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144864595	chr4:21190347-21190348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138773022	chr4:21190358-21190359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1425346	chr4:21190395-21190396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543828576	chr4:21190413-21190414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561961666	chr4:21190421-21190422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529354124	chr4:21190435-21190436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1364839	chr4:21190462-21190463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559942541	chr4:21190471-21190472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34607993	chr4:21190532-21190533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533616394	chr4:21190564-21190565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552095245	chr4:21190574-21190575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73805056	chr4:21190578-21190579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570392329	chr4:21190610-21190611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374635301	chr4:21190611-21190612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181513387	chr4:21190620-21190621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567164303	chr4:21190635-21190636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141951909	chr4:21190654-21190655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537363916	chr4:21190703-21190704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577411540	chr4:21190711-21190712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146314036	chr4:21190764-21190765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556817044	chr4:21190832-21190833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562871816	chr4:21190864-21190865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76504453	chr4:21190896-21190897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532535799	chr4:21190898-21190899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185904132	chr4:21190911-21190912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377468665	chr4:21190936-21190937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78818028	chr4:21190937-21190938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190711377	chr4:21190938-21190939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568944227	chr4:21190943-21190944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559928339	chr4:21190962-21190963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533552576	chr4:21190995-21190996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73247386	chr4:21191011-21191012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16870567	chr4:21191024-21191025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs149581918	chr4:21191084-21191085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Cancer	22183965	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21189200-21192400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:21192400-21192800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:21192400-21193400	Enhancers	Fetal Brain Female	brain
4	chr4:21192400-21193600	Enhancers	Brain Germinal Matrix	brain
5	chr4:21193600-21194800	Weak transcription	Brain Germinal Matrix	brain
6	chr4:21194800-21195200	Enhancers	Brain Germinal Matrix	brain
7	chr4:21204400-21205400	Enhancers	HepG2	liver
8	chr4:21204800-21205400	Enhancers	Esophagus	oesophagus
9	chr4:21204800-21206000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:21206000-21206400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:21206400-21208000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:21206600-21208600	Enhancers	HepG2	liver
13	chr4:21207000-21207800	Enhancers	Gastric	stomach
14	chr4:21207000-21208200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:21207200-21208400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:21207200-21208400	Enhancers	HUVEC	blood vessel
17	chr4:21207400-21207800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:21207400-21207800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:21208000-21208400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:21208400-21210400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:21208400-21211400	Weak transcription	HUVEC	blood vessel
22	chr4:21210400-21213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:21211400-21212000	Enhancers	HUVEC	blood vessel
24	chr4:21213000-21213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:21213000-21214000	Enhancers	Brain Germinal Matrix	brain
26	chr4:21213000-21214400	Enhancers	Fetal Brain Female	brain
27	chr4:21213600-21214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:21213600-21214200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:21213800-21216000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:21214000-21214400	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr4:21216000-21216400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:21216400-21216600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:21216600-21216800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:21217000-21217200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:21217000-21217400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:21217200-21225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:21218800-21219400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:21224800-21225200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:21225000-21225200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:21225800-21226200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:21228600-21229200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:21228600-21229200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:21228600-21229200	Enhancers	Colon Smooth Muscle	Colon
44	chr4:21228800-21229200	Enhancers	Liver	Liver
45	chr4:21228800-21229200	Enhancers	Fetal Lung	lung
46	chr4:21228800-21229200	Enhancers	Pancreas	Pancrea
47	chr4:21229200-21230200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:21230200-21230400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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