Variant report

Variant	esv15210
Chromosome Location	chr5:117868237-117878164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-10	chr5:117874482-117874658	l_3002_chr5:117837955-117925717_heart

Extended variants
information (count: 647 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574801909	chr5:117868331-117868332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116665259	chr5:117868340-117868341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557082738	chr5:117868349-117868350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377657184	chr5:117868366-117868367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369244962	chr5:117868374-117868375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576802089	chr5:117868377-117868378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79278965	chr5:117868396-117868397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192208554	chr5:117868435-117868436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573501588	chr5:117868443-117868444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542010171	chr5:117868517-117868518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562315607	chr5:117868522-117868523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371551692	chr5:117868534-117868535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118012740	chr5:117868556-117868557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562065771	chr5:117868637-117868638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550675027	chr5:117868653-117868654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13155047	chr5:117868657-117868658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183991026	chr5:117868668-117868669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546640388	chr5:117868697-117868698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7724895	chr5:117868733-117868734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143656128	chr5:117868764-117868765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549049730	chr5:117868773-117868774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533309640	chr5:117868799-117868800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373400526	chr5:117868836-117868837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551677088	chr5:117868841-117868842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188462891	chr5:117868872-117868873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557017652	chr5:117868883-117868884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576937786	chr5:117868907-117868908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147188446	chr5:117868998-117868999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138432205	chr5:117869002-117869003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573416446	chr5:117869025-117869026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143569210	chr5:117869041-117869042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542500393	chr5:117869042-117869043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7728910	chr5:117869061-117869062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575779338	chr5:117869094-117869095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6870931	chr5:117869104-117869105	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7711508	chr5:117869117-117869118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533064750	chr5:117869122-117869123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540196976	chr5:117869132-117869133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6595143	chr5:117869174-117869175	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs144261813	chr5:117869191-117869192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549239810	chr5:117869198-117869199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7729618	chr5:117869199-117869200	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531365921	chr5:117869212-117869213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192285509	chr5:117869220-117869221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7729492	chr5:117869292-117869293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149666943	chr5:117869305-117869306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80318901	chr5:117869330-117869331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7729521	chr5:117869357-117869358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566855725	chr5:117869366-117869367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184628898	chr5:117869373-117869374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117859400-117870200	Weak transcription	Left Ventricle	heart
2	chr5:117866400-117870200	Weak transcription	Right Atrium	heart
3	chr5:117866600-117868600	Weak transcription	Fetal Heart	heart
4	chr5:117868000-117870600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:117868200-117869600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:117868600-117870400	Enhancers	Fetal Heart	heart
7	chr5:117869400-117870000	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:117870200-117870400	Enhancers	Left Ventricle	heart
9	chr5:117870200-117870400	Enhancers	Right Atrium	heart
10	chr5:117875200-117876000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:117875200-117876000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr5:117875400-117877200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr5:117875600-117878400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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