Variant report

Variant	nsv963541
Chromosome Location	chr3:163173125-163182384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 225 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543177343	chr3:163173150-163173151	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563164267	chr3:163173187-163173188	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373014228	chr3:163173196-163173197	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529827683	chr3:163173242-163173243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559083521	chr3:163173259-163173260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115069413	chr3:163173284-163173285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547889816	chr3:163173302-163173303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568706085	chr3:163173305-163173306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369333290	chr3:163173339-163173340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17476764	chr3:163173371-163173372	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6548406	chr3:163173448-163173449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs200109592	chr3:163173460-163173461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10572398	chr3:163173462-163173463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7635143	chr3:163173463-163173464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553548821	chr3:163173515-163173516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183283545	chr3:163173524-163173525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150758166	chr3:163173526-163173527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116272100	chr3:163173536-163173537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186188151	chr3:163173599-163173600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139279484	chr3:163173613-163173614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191384314	chr3:163173630-163173631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576675216	chr3:163173670-163173671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183618618	chr3:163173680-163173681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142595463	chr3:163173729-163173730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115499340	chr3:163173755-163173756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572868482	chr3:163173775-163173776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146003699	chr3:163173794-163173795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561560103	chr3:163173806-163173807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187435842	chr3:163173828-163173829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7628398	chr3:163173866-163173867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191163700	chr3:163173896-163173897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539274711	chr3:163173931-163173932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139956604	chr3:163173938-163173939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201666817	chr3:163173939-163173940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533516200	chr3:163174039-163174040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546887753	chr3:163174056-163174057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556958445	chr3:163174174-163174175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183261884	chr3:163174175-163174176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373207117	chr3:163174210-163174211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549335899	chr3:163174282-163174283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568951540	chr3:163174308-163174309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536944921	chr3:163174434-163174435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16846897	chr3:163174461-163174462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377000392	chr3:163174462-163174463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186811419	chr3:163174507-163174508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371285346	chr3:163174508-163174509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192179474	chr3:163174540-163174541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184445739	chr3:163174542-163174543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376306226	chr3:163174577-163174578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1545704	chr3:163174586-163174587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	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
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163169400-163179400	Weak transcription	Aorta	Aorta
2	chr3:163172800-163173200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:163172800-163173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:163176600-163177000	Enhancers	Hela-S3	cervix
5	chr3:163177000-163177400	Active TSS	Hela-S3	cervix
6	chr3:163179200-163180000	Enhancers	Adipose Nuclei	Adipose
7	chr3:163179400-163180000	Enhancers	Aorta	Aorta

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