Variant report

Variant	nsv963314
Chromosome Location	chr3:43524844-43527216
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	chr3:43510126..43512612-chr3:43523954..43526015,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566569341	chr3:43524901-43524902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375540786	chr3:43524907-43524908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138711894	chr3:43524945-43524946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149386875	chr3:43524995-43524996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182754741	chr3:43525012-43525013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144722095	chr3:43525052-43525053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188124677	chr3:43525058-43525059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192946840	chr3:43525066-43525067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148106926	chr3:43525129-43525130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142975342	chr3:43525171-43525172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113080605	chr3:43525193-43525194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368232247	chr3:43525231-43525232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184640012	chr3:43525252-43525253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563525763	chr3:43525254-43525255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189087059	chr3:43525266-43525267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146109768	chr3:43525276-43525277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566208713	chr3:43525287-43525288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552257739	chr3:43525357-43525358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545181865	chr3:43525359-43525360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557176102	chr3:43525452-43525453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377163132	chr3:43525528-43525529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191995445	chr3:43525553-43525554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77706902	chr3:43525604-43525605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140183248	chr3:43525611-43525612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571814779	chr3:43525617-43525618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185075190	chr3:43525640-43525641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1482649	chr3:43525652-43525653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567430247	chr3:43525746-43525747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536028462	chr3:43525809-43525810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554784043	chr3:43525834-43525835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528449895	chr3:43525877-43525878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553245205	chr3:43525886-43525887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375512423	chr3:43525919-43525920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573010183	chr3:43525924-43525925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369919230	chr3:43525934-43525935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544653490	chr3:43525960-43525961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112488735	chr3:43525964-43525965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376783868	chr3:43526033-43526034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540573299	chr3:43526044-43526045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115909435	chr3:43526057-43526058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150729747	chr3:43526066-43526067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73832604	chr3:43526076-43526077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189454237	chr3:43526146-43526147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529506259	chr3:43526298-43526299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs66842319	chr3:43526356-43526357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180970333	chr3:43526357-43526358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528776283	chr3:43526363-43526364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553793059	chr3:43526372-43526373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112437431	chr3:43526411-43526412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376954471	chr3:43526414-43526415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43473400-43541400	Weak transcription	Aorta	Aorta
2	chr3:43497000-43539400	Weak transcription	HSMM	muscle
3	chr3:43497200-43532600	Weak transcription	K562	blood
4	chr3:43504800-43553400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:43515000-43526400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:43515000-43532400	Weak transcription	Pancreas	Pancrea
7	chr3:43516000-43526600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:43519600-43539000	Weak transcription	Right Atrium	heart
9	chr3:43519800-43538200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:43521400-43526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:43522000-43532200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:43522200-43525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:43522200-43538200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:43522200-43538800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:43522400-43525600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:43522400-43539600	Weak transcription	HSMMtube	muscle
17	chr3:43523200-43525800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:43523200-43527800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:43523400-43527200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:43523400-43527400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:43523400-43531600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:43523600-43525800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:43523800-43525000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr3:43523800-43526600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:43524000-43525000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:43524000-43525000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:43524000-43525000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:43524000-43525200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:43524000-43525200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr3:43524000-43525200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr3:43524000-43526000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:43524200-43525000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:43524200-43525800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:43524200-43539600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:43524400-43525000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:43524400-43526600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:43524400-43531000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:43524600-43532400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:43525000-43525200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr3:43525000-43526400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:43525600-43525800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr3:43525800-43526200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:43525800-43526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:43525800-43526600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:43525800-43527800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:43526000-43526400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:43526000-43560800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:43526200-43531400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:43526400-43527000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:43526400-43527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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