Variant report

Variant	nsv979895
Chromosome Location	chr3:160664994-160666094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556123022	chr3:160665037-160665038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552142719	chr3:160665042-160665043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374090193	chr3:160665051-160665052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386667631	chr3:160665065-160665066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62280309	chr3:160665076-160665077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557087785	chr3:160665114-160665115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576826165	chr3:160665121-160665122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377277004	chr3:160665193-160665194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536351545	chr3:160665278-160665279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570658048	chr3:160665291-160665292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192569209	chr3:160665327-160665328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572975036	chr3:160665338-160665339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150065964	chr3:160665380-160665381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561684061	chr3:160665403-160665404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539784749	chr3:160665411-160665412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144375680	chr3:160665440-160665441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564331000	chr3:160665470-160665471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533429220	chr3:160665501-160665502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112335899	chr3:160665519-160665520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115547826	chr3:160665608-160665609	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs535505781	chr3:160665629-160665630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13073571	chr3:160665720-160665721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549688730	chr3:160665752-160665753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113362232	chr3:160665759-160665760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538540677	chr3:160665797-160665798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536716734	chr3:160665811-160665812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533870160	chr3:160665846-160665847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148771627	chr3:160665872-160665873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183684771	chr3:160665930-160665931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539492239	chr3:160666000-160666001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160658800-160667400	Weak transcription	Thymus	Thymus
2	chr3:160659800-160666000	Weak transcription	Fetal Kidney	kidney
3	chr3:160663400-160666200	Weak transcription	Psoas Muscle	Psoas
4	chr3:160664000-160665800	Weak transcription	Liver	Liver
5	chr3:160665800-160666600	Enhancers	Fetal Intestine Large	intestine
6	chr3:160665800-160666800	Enhancers	Liver	Liver
7	chr3:160666000-160666200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:160666000-160666200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:160666000-160666400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:160666000-160666600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:160666000-160667400	Enhancers	Fetal Kidney	kidney
12	chr3:160666000-160668000	Enhancers	HepG2	liver

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