Variant report

Variant	nsv878986
Chromosome Location	chr4:45756683-45892423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:45871736..45873676-chr4:45875585..45877593,2	K562	blood:
2	chr4:45884022..45886889-chr4:45891193..45894210,3	K562	blood:
3	chr4:45871736..45873676-chr4:45875585..45877593,2	K562	blood:
4	chr4:45884022..45886889-chr4:45891193..45894210,3	K562	blood:
5	chr4:45870299..45872287-chr4:45880664..45882476,2	K562	blood:
6	chr4:45870299..45872287-chr4:45880664..45882476,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GABRG1-1	chr4:45810636-45810670	XLOC_003943

No data

Variant related genes	Relation type
TCF12	miRNA target sites

Extended variants
information (count: 1459 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1459 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28396869	chr4:45763404-45763405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575207329	chr4:45763406-45763407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368210350	chr4:45763420-45763421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201296962	chr4:45763421-45763422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557128752	chr4:45763462-45763463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150385883	chr4:45763490-45763491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542693956	chr4:45763508-45763509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547620861	chr4:45763523-45763524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554929831	chr4:45763628-45763629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10805139	chr4:45763629-45763630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529929217	chr4:45763638-45763639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369186352	chr4:45763651-45763652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559606331	chr4:45763652-45763653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181862595	chr4:45763664-45763665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545092517	chr4:45763670-45763671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138021701	chr4:45763681-45763682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142214130	chr4:45763684-45763685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548738602	chr4:45763719-45763720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1532236	chr4:45763737-45763738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528774694	chr4:45763751-45763752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546849537	chr4:45763754-45763755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571508223	chr4:45763771-45763772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538909038	chr4:45763777-45763778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185753165	chr4:45763789-45763790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557519799	chr4:45763800-45763801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532430461	chr4:45766637-45766638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142125036	chr4:45766698-45766699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537962490	chr4:45766699-45766700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369418506	chr4:45766710-45766711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1845125	chr4:45766712-45766713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568157814	chr4:45766739-45766740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376352135	chr4:45766828-45766829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113471985	chr4:45766851-45766852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553787037	chr4:45766885-45766886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534323195	chr4:45766943-45766944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138366427	chr4:45766961-45766962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115498968	chr4:45766977-45766978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74504429	chr4:45766981-45766982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28609146	chr4:45766988-45766989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545743892	chr4:45767004-45767005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368355522	chr4:45767005-45767006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150228033	chr4:45767016-45767017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7691853	chr4:45767064-45767065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573787793	chr4:45767073-45767074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528180257	chr4:45767095-45767096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138720510	chr4:45767102-45767103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149361788	chr4:45767144-45767145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527605603	chr4:45767156-45767157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144818129	chr4:45767176-45767177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564316337	chr4:45767183-45767184	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45763400-45763800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:45766600-45767400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:45766600-45769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:45767200-45767800	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:45767200-45768800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:45767400-45767600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:45767600-45767800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:45767800-45768000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:45767800-45768200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:45768000-45769000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:45768200-45768600	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:45768800-45773000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:45769000-45778000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:45772800-45773200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:45773000-45773400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:45773000-45773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:45773000-45773600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:45773200-45773400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:45777600-45778600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:45778000-45778600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:45795600-45797800	Enhancers	Colon Smooth Muscle	Colon
22	chr4:45797200-45798200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:45797400-45798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:45797600-45798200	Enhancers	Ovary	ovary
25	chr4:45797600-45798200	Enhancers	Rectal Smooth Muscle	rectum
26	chr4:45797600-45798400	Enhancers	Fetal Stomach	stomach
27	chr4:45798200-45801000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:45801000-45801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:45823400-45823600	Enhancers	Spleen	Spleen
30	chr4:45823400-45823800	ZNF genes & repeats	Gastric	stomach
31	chr4:45829000-45829600	Enhancers	Fetal Heart	heart
32	chr4:45838400-45838800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:45842800-45843600	Enhancers	Fetal Heart	heart
34	chr4:45842800-45843800	Enhancers	Fetal Lung	lung
35	chr4:45843000-45843600	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:45843200-45845800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:45847400-45849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:45847800-45849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:45858000-45858600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr4:45858600-45859800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:45862600-45865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:45863200-45863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:45863200-45867800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:45863800-45864200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:45864200-45864400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:45864400-45867600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:45865000-45867400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:45867400-45868200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:45867600-45868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:45867800-45868800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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