Variant report

Variant	nsv963353
Chromosome Location	chr3:118554595-118572118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118563667..118566628-chr3:118567150..118569941,2	K562	blood:
2	chr3:118563667..118566628-chr3:118567150..118569941,2	K562	blood:

Extended variants
information (count: 361 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536339666	chr3:118554622-118554623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548705437	chr3:118554642-118554643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190157035	chr3:118554645-118554646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs812824	chr3:118554646-118554647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs5852178	chr3:118554699-118554700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577546059	chr3:118554751-118554752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369164490	chr3:118554774-118554775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13076418	chr3:118554843-118554844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35681417	chr3:118554894-118554895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544741115	chr3:118554929-118554930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563037251	chr3:118554931-118554932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146323645	chr3:118554937-118554938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543563063	chr3:118555042-118555043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182427624	chr3:118555048-118555049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115298547	chr3:118555077-118555078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188703287	chr3:118555106-118555107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559730894	chr3:118555113-118555114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2936727	chr3:118555114-118555115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192987293	chr3:118555169-118555170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377533779	chr3:118555171-118555172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570114700	chr3:118555179-118555180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9838210	chr3:118555223-118555224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549162548	chr3:118555229-118555230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567469070	chr3:118555233-118555234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534947955	chr3:118555266-118555267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376831556	chr3:118555289-118555290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138213547	chr3:118555311-118555312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561467972	chr3:118555325-118555326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373406045	chr3:118555331-118555332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552978668	chr3:118555343-118555344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530477577	chr3:118555346-118555347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374143853	chr3:118555381-118555382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544014032	chr3:118555402-118555403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541467607	chr3:118555457-118555458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185282177	chr3:118555460-118555461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556641443	chr3:118555487-118555488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188898653	chr3:118555500-118555501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35247869	chr3:118555543-118555544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543625726	chr3:118555578-118555579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146583380	chr3:118555600-118555601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562333951	chr3:118555639-118555640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574134761	chr3:118555658-118555659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533306708	chr3:118555709-118555710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546558900	chr3:118555713-118555714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571972021	chr3:118555727-118555728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541749493	chr3:118555872-118555873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566890545	chr3:118555887-118555888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140628068	chr3:118555888-118555889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534609117	chr3:118555913-118555914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559791868	chr3:118555925-118555926	Weak transcription	n/a	n/a	Overlapped CNVs	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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118552800-118556000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:118557800-118558200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:118560600-118561000	Enhancers	A549	lung
4	chr3:118561000-118561600	Active TSS	A549	lung
5	chr3:118561000-118561600	Active TSS	K562	blood
6	chr3:118561200-118561600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:118561200-118561600	ZNF genes & repeats	Dnd41	blood
8	chr3:118561200-118561600	Active TSS	Hela-S3	cervix
9	chr3:118561200-118562000	Active TSS	HepG2	liver
10	chr3:118561200-118562200	ZNF genes & repeats	Aorta	Aorta
11	chr3:118561200-118562600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr3:118561600-118562200	ZNF genes & repeats	Liver	Liver
13	chr3:118561800-118562000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:118562000-118562200	Enhancers	HepG2	liver
15	chr3:118562000-118563200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:118563200-118563400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:118563400-118565200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:118565200-118565400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:118570000-118571200	ZNF genes & repeats	GM12878-XiMat	blood
20	chr3:118570200-118570800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr3:118570200-118571200	Active TSS	Duodenum Mucosa	Duodenum
22	chr3:118570400-118570600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:118570400-118571000	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr3:118570400-118571000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:118570400-118571000	Enhancers	Esophagus	oesophagus
26	chr3:118570400-118571200	Active TSS	Primary T cells fromperipheralblood	blood
27	chr3:118570400-118571200	Enhancers	Dnd41	blood
28	chr3:118570400-118571200	Active TSS	Hela-S3	cervix
29	chr3:118570400-118571200	Active TSS	HepG2	liver
30	chr3:118570600-118571200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:118570600-118571400	Active TSS	A549	lung
32	chr3:118570600-118571400	Active TSS	K562	blood
33	chr3:118570800-118571000	Enhancers	Primary B cells from peripheral blood	blood
34	chr3:118570800-118571200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:118570800-118571200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:118571200-118571400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:118571200-118571400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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