Variant report

Variant	nsv1002610
Chromosome Location	chr4:21192993-21261812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1368 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6844318	chr4:21192993-21192994	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79735970	chr4:21193011-21193012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555093336	chr4:21193017-21193018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77923992	chr4:21193029-21193030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191929078	chr4:21193030-21193031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182896243	chr4:21193039-21193040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577096749	chr4:21193056-21193057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370383861	chr4:21193069-21193070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562302217	chr4:21193081-21193082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558494490	chr4:21193094-21193095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574375121	chr4:21193095-21193096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115147213	chr4:21193098-21193099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560329246	chr4:21193153-21193154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527465096	chr4:21193192-21193193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552430076	chr4:21193218-21193219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564294710	chr4:21193227-21193228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531466430	chr4:21193235-21193236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73247389	chr4:21193271-21193272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569156691	chr4:21193287-21193288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530150513	chr4:21193298-21193299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7686656	chr4:21193335-21193336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566654833	chr4:21193343-21193344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34533790	chr4:21193374-21193375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73247391	chr4:21193391-21193392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187581061	chr4:21193404-21193405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571032075	chr4:21193433-21193434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192438011	chr4:21193490-21193491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111547836	chr4:21193518-21193519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543993783	chr4:21193566-21193567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184833912	chr4:21193581-21193582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144964481	chr4:21193634-21193635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372420036	chr4:21193643-21193644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114170078	chr4:21193646-21193647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149079331	chr4:21193668-21193669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556346379	chr4:21193696-21193697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190778028	chr4:21193715-21193716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543343833	chr4:21193730-21193731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17448657	chr4:21193740-21193741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546162856	chr4:21193788-21193789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577854755	chr4:21193795-21193796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144824886	chr4:21193846-21193847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6850434	chr4:21193903-21193904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11937253	chr4:21193910-21193911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184671988	chr4:21193929-21193930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552253625	chr4:21193944-21193945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375523164	chr4:21193968-21193969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570951765	chr4:21193986-21193987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538470347	chr4:21194026-21194027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556563538	chr4:21194027-21194028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189385855	chr4:21194033-21194034	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21192400-21193400	Enhancers	Fetal Brain Female	brain
2	chr4:21192400-21193600	Enhancers	Brain Germinal Matrix	brain
3	chr4:21193600-21194800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:21194800-21195200	Enhancers	Brain Germinal Matrix	brain
5	chr4:21204400-21205400	Enhancers	HepG2	liver
6	chr4:21204800-21205400	Enhancers	Esophagus	oesophagus
7	chr4:21204800-21206000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:21206000-21206400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:21206400-21208000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:21206600-21208600	Enhancers	HepG2	liver
11	chr4:21207000-21207800	Enhancers	Gastric	stomach
12	chr4:21207000-21208200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:21207200-21208400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:21207200-21208400	Enhancers	HUVEC	blood vessel
15	chr4:21207400-21207800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:21207400-21207800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:21208000-21208400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:21208400-21210400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:21208400-21211400	Weak transcription	HUVEC	blood vessel
20	chr4:21210400-21213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:21211400-21212000	Enhancers	HUVEC	blood vessel
22	chr4:21213000-21213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:21213000-21214000	Enhancers	Brain Germinal Matrix	brain
24	chr4:21213000-21214400	Enhancers	Fetal Brain Female	brain
25	chr4:21213600-21214000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:21213600-21214200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:21213800-21216000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:21214000-21214400	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr4:21216000-21216400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:21216400-21216600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:21216600-21216800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:21217000-21217200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:21217000-21217400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:21217200-21225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:21218800-21219400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:21224800-21225200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:21225000-21225200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:21225800-21226200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:21228600-21229200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:21228600-21229200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr4:21228600-21229200	Enhancers	Colon Smooth Muscle	Colon
42	chr4:21228800-21229200	Enhancers	Liver	Liver
43	chr4:21228800-21229200	Enhancers	Fetal Lung	lung
44	chr4:21228800-21229200	Enhancers	Pancreas	Pancrea
45	chr4:21229200-21230200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:21230200-21230400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:21243000-21243200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:21243000-21244400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr4:21243200-21246600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:21244200-21244600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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