Variant report

Variant	esv2760838
Chromosome Location	chr4:45778999-45823122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
TCF12	miRNA target sites

Extended variants
information (count: 207 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192311668	chr4:45795603-45795604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182983646	chr4:45795606-45795607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187283341	chr4:45795629-45795630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543611783	chr4:45795634-45795635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561986252	chr4:45795662-45795663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368209061	chr4:45795670-45795671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529487500	chr4:45795673-45795674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139779808	chr4:45795697-45795698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56827180	chr4:45795716-45795717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145313995	chr4:45795731-45795732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147608585	chr4:45795734-45795735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551773877	chr4:45795822-45795823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570763690	chr4:45795827-45795828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79988798	chr4:45795847-45795848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192858921	chr4:45795862-45795863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1492839	chr4:45795895-45795896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535614144	chr4:45795904-45795905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115832065	chr4:45795929-45795930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576353475	chr4:45796046-45796047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184411543	chr4:45796069-45796070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539082178	chr4:45796086-45796087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545096540	chr4:45796135-45796136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142214110	chr4:45796148-45796149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575623802	chr4:45796207-45796208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189308187	chr4:45796223-45796224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555619008	chr4:45796253-45796254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61438153	chr4:45796278-45796279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574187463	chr4:45796279-45796280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370881437	chr4:45796284-45796285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541582706	chr4:45796291-45796292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572432910	chr4:45796423-45796424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147059480	chr4:45796449-45796450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs66495318	chr4:45796478-45796479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62306296	chr4:45796484-45796485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62306297	chr4:45796487-45796488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62306298	chr4:45796493-45796494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62306299	chr4:45796497-45796498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62306300	chr4:45796501-45796502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57860719	chr4:45796511-45796512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545430680	chr4:45796515-45796516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563711319	chr4:45796516-45796517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78312978	chr4:45796586-45796587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193103236	chr4:45796593-45796594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576341853	chr4:45796624-45796625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550124374	chr4:45796632-45796633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568325682	chr4:45796665-45796666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184876995	chr4:45796671-45796672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547540203	chr4:45796675-45796676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537577661	chr4:45796684-45796685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565639741	chr4:45796702-45796703	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:45795600-45797800	Enhancers	Colon Smooth Muscle	Colon
2	chr4:45797200-45798200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:45797400-45798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:45797600-45798200	Enhancers	Ovary	ovary
5	chr4:45797600-45798200	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:45797600-45798400	Enhancers	Fetal Stomach	stomach
7	chr4:45798200-45801000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:45801000-45801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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