Variant report

Variant	nsv975156
Chromosome Location	chr11:18230807-18245674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRGPRX4-1	chr11:18231033-18232217	XLOC_009080
2	lnc-MRGPRX4-1	chr11:18231033-18232217	NR_026564
3	lnc-MRGPRX4-1	chr11:18234628-18235111	NR_026564
4	lnc-MRGPRX4-1	chr11:18234628-18235486	XLOC_009080
5	lnc-MRGPRX4-1	chr11:18231033-18233055	NR_026541
6	lnc-MRGPRX4-1	chr11:18231033-18233054	XLOC_009080
7	lnc-MRGPRX4-1	chr11:18234628-18235109	XLOC_009080

Extended variants
information (count: 323 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373399479	chr11:18230810-18230811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs36017438	chr11:18230830-18230831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560444500	chr11:18230839-18230840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527920141	chr11:18230854-18230855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113723678	chr11:18230876-18230877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552572352	chr11:18230883-18230884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77075828	chr11:18230910-18230911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531725541	chr11:18230929-18230930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575355526	chr11:18230932-18230933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187620877	chr11:18230985-18230986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114336679	chr11:18230994-18230995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547886649	chr11:18231008-18231009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369251321	chr11:18231052-18231053	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs565724847	chr11:18231090-18231091	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs73436254	chr11:18231149-18231150	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201221426	chr11:18231186-18231187	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572977638	chr11:18231189-18231190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs200895791	chr11:18231196-18231197	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs528161254	chr11:18231197-18231198	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs397762059	chr11:18231201-18231202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs201550386	chr11:18231202-18231203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs4757627	chr11:18231289-18231290	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192974691	chr11:18231371-18231372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs17854907	chr11:18231388-18231389	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs554897455	chr11:18231400-18231401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs138574842	chr11:18231413-18231414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs377496310	chr11:18231433-18231434	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs7128174	chr11:18231434-18231435	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141680797	chr11:18231451-18231452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs7129094	chr11:18231459-18231460	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570253391	chr11:18231477-18231478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs531993809	chr11:18231479-18231480	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs544147593	chr11:18231484-18231485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs562029550	chr11:18231494-18231495	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs529324362	chr11:18231588-18231589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs375531640	chr11:18231673-18231674	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs111893077	chr11:18231676-18231677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs566213728	chr11:18231711-18231712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs200620835	chr11:18231712-18231713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs111282134	chr11:18231734-18231735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs185209038	chr11:18231739-18231740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs2468789	chr11:18231749-18231750	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189790951	chr11:18231757-18231758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs535103330	chr11:18231788-18231789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200419863	chr11:18231789-18231790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181288227	chr11:18231815-18231816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs148392759	chr11:18231818-18231819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs572831690	chr11:18231819-18231820	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs534660409	chr11:18231844-18231845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs184006703	chr11:18231851-18231852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18230600-18231000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:18230800-18231000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:18231000-18231200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:18232200-18232600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:18233400-18233800	Enhancers	HepG2	liver
6	chr11:18233400-18234000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:18242000-18243400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:18242000-18243400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:18242600-18243000	Enhancers	HepG2	liver
10	chr11:18243000-18243200	Enhancers	Liver	Liver
11	chr11:18243000-18243400	Flanking Active TSS	HepG2	liver
12	chr11:18243200-18243400	ZNF genes & repeats	Esophagus	oesophagus
13	chr11:18243200-18244600	Weak transcription	Liver	Liver
14	chr11:18243400-18244400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:18243400-18244600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:18243400-18245800	Enhancers	HepG2	liver
17	chr11:18244400-18244600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:18244400-18244800	Enhancers	Spleen	Spleen
19	chr11:18244600-18244800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:18244600-18245000	Enhancers	Primary B cells from peripheral blood	blood
21	chr11:18244600-18245600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:18244600-18247000	Enhancers	Liver	Liver
23	chr11:18244800-18246400	Weak transcription	Spleen	Spleen
24	chr11:18245000-18246600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:18245600-18245800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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