Variant report

Variant	esv3404895
Chromosome Location	chr5:117645772-117646332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-9	chr5:117646168-117646321	ucscGeneNc_uc003krz_2

Extended variants
information (count: 34 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56024021	chr5:117645800-117645801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577251438	chr5:117645842-117645843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193095592	chr5:117645871-117645872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185706493	chr5:117645893-117645894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188784525	chr5:117645905-117645906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150582979	chr5:117645909-117645910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72788074	chr5:117645917-117645918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs139593644	chr5:117645925-117645926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550293689	chr5:117645953-117645954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149716769	chr5:117645956-117645957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532880035	chr5:117645965-117645966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114966956	chr5:117645994-117645995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548412883	chr5:117646043-117646044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566288436	chr5:117646047-117646048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535374865	chr5:117646054-117646055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565606351	chr5:117646095-117646096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568788540	chr5:117646100-117646101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113588927	chr5:117646120-117646121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147549411	chr5:117646128-117646129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7446985	chr5:117646132-117646133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557069483	chr5:117646135-117646136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145544088	chr5:117646175-117646176	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs577270715	chr5:117646176-117646177	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs547431989	chr5:117646183-117646184	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs140079503	chr5:117646186-117646187	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573448345	chr5:117646189-117646190	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs113054731	chr5:117646201-117646202	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs3924812	chr5:117646202-117646203	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562404161	chr5:117646234-117646235	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs143667103	chr5:117646238-117646239	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs576001811	chr5:117646247-117646248	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs544245226	chr5:117646290-117646291	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs563877145	chr5:117646311-117646312	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs183879782	chr5:117646316-117646317	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117644800-117645800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:117644800-117645800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:117644800-117646000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:117645000-117647400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:117645200-117645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:117645600-117645800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:117645800-117647400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:117646000-117647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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