Variant report

Variant	nsv877334
Chromosome Location	chr3:109983269-110044601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:109250448..109251796-chr3:110033305..110033942,4	MCF-7	breast:
2	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
3	chr2:238935478..238936978-chr3:109983986..109985979,2	MCF-7	breast:
4	chr3:109450507..109451352-chr3:110033129..110033977,4	MCF-7	breast:
5	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:
6	chr3:110022159..110024501-chr6:145141877..145144734,2	MCF-7	breast:

Extended variants
information (count: 1337 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1337 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1461762	chr3:109983269-109983270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376405780	chr3:109983302-109983303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542784919	chr3:109983307-109983308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562846128	chr3:109983411-109983412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189621921	chr3:109983427-109983428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375369818	chr3:109983442-109983443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544647499	chr3:109983443-109983444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564538874	chr3:109983462-109983463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1461761	chr3:109983477-109983478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181854726	chr3:109983484-109983485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537058426	chr3:109983486-109983487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186505930	chr3:109983497-109983498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138785741	chr3:109983511-109983512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75938191	chr3:109983553-109983554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141692085	chr3:109983554-109983555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538931192	chr3:109983578-109983579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541645164	chr3:109983582-109983583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551826782	chr3:109983594-109983595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571534095	chr3:109983606-109983607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534160219	chr3:109983624-109983625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113763037	chr3:109983625-109983626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553997172	chr3:109983629-109983630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574033688	chr3:109983642-109983643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559621504	chr3:109983664-109983665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112973835	chr3:109983691-109983692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60444002	chr3:109983692-109983693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112119519	chr3:109983703-109983704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200844548	chr3:109983709-109983710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371210257	chr3:109983758-109983759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556332383	chr3:109983779-109983780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576378308	chr3:109983790-109983791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370346765	chr3:109983815-109983816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564931404	chr3:109983831-109983832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574985422	chr3:109983852-109983853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540972340	chr3:109983865-109983866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147062242	chr3:109983870-109983871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529784269	chr3:109983871-109983872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62282489	chr3:109983918-109983919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368532060	chr3:109983937-109983938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563450557	chr3:109984007-109984008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372266131	chr3:109984030-109984031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532482413	chr3:109984039-109984040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552514564	chr3:109984093-109984094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553195949	chr3:109984103-109984104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565937293	chr3:109984120-109984121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201854492	chr3:109984134-109984135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138166942	chr3:109984136-109984137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528657175	chr3:109984167-109984168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76263983	chr3:109984247-109984248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375278648	chr3:109984325-109984326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Hirschsprung''s Disease	21712996	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
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
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109978800-109983800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:109981600-109983600	Enhancers	Fetal Intestine Small	intestine
3	chr3:109981800-109985200	Enhancers	Ovary	ovary
4	chr3:109982200-109983400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:109982200-109984000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:109982200-109984600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:109982600-109983800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:109983200-109984200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:109983400-109984800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:109983800-109984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:109983800-109984600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:109983800-109984600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:109983800-109985000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:109983800-109985200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:109983800-109985600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:109984000-109984400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:109984000-109985400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:109984200-109984400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:109984200-109984400	Enhancers	Fetal Lung	lung
20	chr3:109984200-109984600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:109984200-109985000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr3:109984200-109990600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:109984400-109985000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:109984400-109986800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:109984600-109985000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr3:109985000-109992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr3:109985200-109986200	Weak transcription	Ovary	ovary
28	chr3:109985200-109991000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:109985400-109991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:109985600-109990600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:109986000-109987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:109986200-109986400	Enhancers	Ovary	ovary
33	chr3:109986200-109987400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:109986800-109987400	Enhancers	Primary hematopoietic stem cells	blood
35	chr3:109986800-109987400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:109986800-109988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:109988200-109991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:109990600-109992200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:109990600-109992400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:109990600-109992400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:109990800-109992200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:109990800-109992600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr3:109991000-109991600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:109991000-109992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:109991000-109992200	Enhancers	Fetal Heart	heart
46	chr3:109991000-109992600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:109991000-109993000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:109991200-109991600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:109992000-109992200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr3:109995400-109995600	Enhancers	HSMM	muscle

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