Variant report

Variant	esv19992
Chromosome Location	chr3:69179922-69181540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL6IP5-3	chr3:69180049-69180447	predAs_chen_BG208742_1

Extended variants
information (count: 72 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529048079	chr3:69179930-69179931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530010508	chr3:69179978-69179979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542749590	chr3:69179994-69179995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144120579	chr3:69180000-69180001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370371178	chr3:69180021-69180022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145001268	chr3:69180071-69180072	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149074614	chr3:69180159-69180160	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs188747708	chr3:69180181-69180182	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs180771568	chr3:69180211-69180212	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs6774962	chr3:69180218-69180219	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34399740	chr3:69180281-69180282	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs367875306	chr3:69180282-69180283	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs557995328	chr3:69180283-69180284	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs79063258	chr3:69180297-69180298	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs71115651	chr3:69180299-69180300	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs567126807	chr3:69180367-69180368	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs185410937	chr3:69180368-69180369	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs536001678	chr3:69180407-69180408	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs548464460	chr3:69180422-69180423	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549081371	chr3:69180437-69180438	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200954608	chr3:69180438-69180439	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs143296839	chr3:69180565-69180566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534737979	chr3:69180570-69180571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368341323	chr3:69180572-69180573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114663206	chr3:69180573-69180574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372101174	chr3:69180620-69180621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148317457	chr3:69180664-69180665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537749544	chr3:69180730-69180731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375975420	chr3:69180788-69180789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557644431	chr3:69180789-69180790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574297160	chr3:69180790-69180791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543212569	chr3:69180851-69180852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548488044	chr3:69180899-69180900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141572314	chr3:69180904-69180905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9875086	chr3:69180908-69180909	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544717446	chr3:69180924-69180925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190563162	chr3:69180943-69180944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530379064	chr3:69180947-69180948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374621598	chr3:69180982-69180983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535926077	chr3:69180985-69180986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531938324	chr3:69181004-69181005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368626657	chr3:69181017-69181018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372316069	chr3:69181033-69181034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529861105	chr3:69181037-69181038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140875716	chr3:69181048-69181049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546367983	chr3:69181057-69181058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7644952	chr3:69181064-69181065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs535110865	chr3:69181065-69181066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551533475	chr3:69181107-69181108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568362527	chr3:69181140-69181141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69178000-69193600	Weak transcription	Psoas Muscle	Psoas
2	chr3:69178400-69180000	Weak transcription	Placenta	Placenta
3	chr3:69179200-69180000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:69180000-69180200	Enhancers	Placenta	Placenta
5	chr3:69180000-69180200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:69180000-69180400	Enhancers	GM12878-XiMat	blood
7	chr3:69180200-69180600	Weak transcription	Placenta	Placenta
8	chr3:69180200-69190600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:69180600-69181000	Enhancers	Placenta	Placenta

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