Variant report

Variant	nsv1009175
Chromosome Location	chr3:76084525-76103687
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	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:
2	chr3:75867624..75868149-chr3:76093803..76094658,2	MCF-7	breast:

Extended variants
information (count: 797 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:797 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1489101	chr3:76084525-76084526	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534562228	chr3:76084530-76084531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570542524	chr3:76084568-76084569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34342137	chr3:76084569-76084570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397729458	chr3:76084572-76084573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7647400	chr3:76084573-76084574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373227669	chr3:76084595-76084596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374108748	chr3:76084598-76084599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7625913	chr3:76084620-76084621	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs7625915	chr3:76084640-76084641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541437971	chr3:76084641-76084642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563430946	chr3:76084697-76084698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373666122	chr3:76084709-76084710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192615260	chr3:76084727-76084728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142151943	chr3:76084739-76084740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540719413	chr3:76084770-76084771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200299168	chr3:76084827-76084828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565431300	chr3:76084874-76084875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532872563	chr3:76084919-76084920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372443079	chr3:76085033-76085034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559775681	chr3:76085065-76085066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530144346	chr3:76085074-76085075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548283031	chr3:76085089-76085090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570180949	chr3:76085113-76085114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78613456	chr3:76085131-76085132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117667676	chr3:76085133-76085134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560239448	chr3:76085146-76085147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531608566	chr3:76085201-76085202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544243276	chr3:76085244-76085245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185306468	chr3:76085266-76085267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71315331	chr3:76085267-76085268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553257800	chr3:76085285-76085286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547587382	chr3:76085309-76085310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188221142	chr3:76085310-76085311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117372130	chr3:76085319-76085320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556679716	chr3:76085326-76085327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575300720	chr3:76085339-76085340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549982277	chr3:76085367-76085368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570964422	chr3:76085384-76085385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577542849	chr3:76085465-76085466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569903321	chr3:76085540-76085541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541624532	chr3:76085561-76085562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193296344	chr3:76085579-76085580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530326630	chr3:76085580-76085581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376439546	chr3:76085581-76085582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373440160	chr3:76085593-76085594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563497475	chr3:76085716-76085717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533629953	chr3:76085717-76085718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530925248	chr3:76085724-76085725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552222808	chr3:76085725-76085726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76075200-76088000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:76083000-76087600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:76083000-76088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:76083600-76085000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:76083600-76085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:76084000-76084600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:76084200-76084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:76084200-76087400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:76084200-76087600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:76084400-76084800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:76084400-76085200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:76084600-76085000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:76084800-76085000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:76084800-76085000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:76085000-76085200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:76085000-76087000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:76085000-76087000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:76085000-76092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:76085200-76086600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:76085200-76087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:76085200-76087400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:76086600-76087600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:76086800-76089600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:76087000-76087200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:76087000-76087800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:76087000-76088000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:76087000-76088400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:76087000-76089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:76087200-76088600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:76087400-76087800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:76087400-76088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:76087400-76089200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:76087600-76087800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr3:76087600-76087800	ZNF genes & repeats	NHEK	skin
35	chr3:76087600-76088000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:76087600-76088000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:76087600-76088200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:76087600-76090600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:76087800-76088000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr3:76087800-76088200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:76087800-76088200	Weak transcription	NHEK	skin
42	chr3:76087800-76088400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:76087800-76088400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:76087800-76088400	Enhancers	Fetal Lung	lung
45	chr3:76087800-76088600	Enhancers	HMEC	breast
46	chr3:76087800-76089000	Enhancers	NH-A	brain
47	chr3:76087800-76089200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:76088000-76088200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr3:76088000-76088400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:76088000-76089200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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