Variant report

Variant	nsv1007586
Chromosome Location	chr3:76053664-76280612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:76229021..76231631-chr3:76233875..76235405,2	MCF-7	breast:
2	chr3:76271078..76272615-chr3:76275655..76278164,2	MCF-7	breast:
3	chr3:76229021..76231631-chr3:76233875..76235405,2	MCF-7	breast:
4	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:
5	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:
6	chr3:76271078..76272615-chr3:76275655..76278164,2	MCF-7	breast:
7	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:
8	chr3:75867624..75868149-chr3:76093803..76094658,2	MCF-7	breast:
9	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:

No data

Extended variants
information (count: 5421 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5421 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs660048	chr3:76059499-76059500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181493844	chr3:76059514-76059515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72890360	chr3:76059608-76059609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561132632	chr3:76059632-76059633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562788499	chr3:76059648-76059649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185736512	chr3:76059666-76059667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149568741	chr3:76059744-76059745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189403184	chr3:76059752-76059753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532634722	chr3:76059758-76059759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143221266	chr3:76059763-76059764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538472339	chr3:76059774-76059775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536591229	chr3:76059806-76059807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148295553	chr3:76059830-76059831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs644104	chr3:76059838-76059839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377256016	chr3:76059875-76059876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1022237	chr3:76059897-76059898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181920116	chr3:76059904-76059905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539758592	chr3:76059918-76059919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541457332	chr3:76059922-76059923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186112033	chr3:76059965-76059966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374474708	chr3:76060038-76060039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570461307	chr3:76060039-76060040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374464250	chr3:76060043-76060044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs644976	chr3:76060048-76060049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74953979	chr3:76060078-76060079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569903357	chr3:76060087-76060088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535715791	chr3:76060167-76060168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555722247	chr3:76060209-76060210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574838870	chr3:76060257-76060258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141801088	chr3:76060261-76060262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561597198	chr3:76060305-76060306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553817425	chr3:76060409-76060410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576372713	chr3:76060463-76060464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190733594	chr3:76060501-76060502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183450803	chr3:76060572-76060573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533951286	chr3:76060617-76060618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554178505	chr3:76060620-76060621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577263760	chr3:76060649-76060650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185616017	chr3:76060661-76060662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541528487	chr3:76060670-76060671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374162856	chr3:76060690-76060691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71315329	chr3:76060705-76060706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs644266	chr3:76060724-76060725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548211843	chr3:76060727-76060728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190768854	chr3:76060734-76060735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6805278	chr3:76063619-76063620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs118184740	chr3:76063620-76063621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6793012	chr3:76063626-76063627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6807805	chr3:76063627-76063628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6793015	chr3:76063633-76063634	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76059400-76059800	Enhancers	Adipose Nuclei	Adipose
2	chr3:76059400-76060600	Enhancers	Fetal Heart	heart
3	chr3:76060400-76060800	Enhancers	Left Ventricle	heart
4	chr3:76063600-76064200	Enhancers	Fetal Brain Male	brain
5	chr3:76064200-76065800	Weak transcription	Fetal Brain Male	brain
6	chr3:76065000-76066400	Enhancers	Fetal Brain Female	brain
7	chr3:76065800-76066200	Enhancers	Fetal Brain Male	brain
8	chr3:76065800-76066400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr3:76066000-76066400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:76066200-76066600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:76066200-76066600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:76066400-76066600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:76069000-76072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:76070000-76073600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:76070600-76071000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:76070800-76071200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:76073000-76075200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:76073600-76073800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:76073600-76075200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:76073800-76074400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:76073800-76075000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:76074400-76075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:76074400-76075200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:76074600-76074800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:76074600-76075200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:76074600-76075800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:76074800-76076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:76075000-76075200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:76075200-76078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:76075200-76078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:76075200-76088000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:76075800-76076200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:76076200-76078000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:76077000-76084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:76078000-76078200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:76078000-76078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:76082400-76082600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:76082400-76082600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:76082400-76082600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:76082400-76083000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr3:76082600-76083600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:76082600-76084000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:76082600-76084000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr3:76083000-76087600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:76083000-76088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:76083600-76085000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:76083600-76085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr3:76083800-76084400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:76084000-76084200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:76084000-76084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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