Variant report

Variant	nsv1020275
Chromosome Location	chr7:19677535-19730557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19727945..19730939-chr7:19734576..19737484,2	MCF-7	breast:
2	chr7:19706293..19708474-chr7:19708622..19711494,3	K562	blood:
3	chr7:18630158..18631096-chr7:19704896..19705753,2	MCF-7	breast:
4	chr7:19696673..19698706-chr7:19716670..19718233,2	K562	blood:
5	chr7:19696673..19698706-chr7:19716670..19718233,2	K562	blood:
6	chr7:19161360..19162323-chr7:19704757..19705725,5	MCF-7	breast:
7	chr7:19706293..19708474-chr7:19708622..19711494,3	K562	blood:

Extended variants
information (count: 986 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28501291	chr7:19683603-19683604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546901098	chr7:19683611-19683612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149468906	chr7:19683654-19683655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538354513	chr7:19683663-19683664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28406835	chr7:19683667-19683668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568814309	chr7:19683702-19683703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539543694	chr7:19683711-19683712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576161875	chr7:19683741-19683742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372970299	chr7:19683768-19683769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144142736	chr7:19683770-19683771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111371789	chr7:19683776-19683777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112207906	chr7:19683784-19683785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571010316	chr7:19683817-19683818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534937273	chr7:19683819-19683820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553251897	chr7:19683820-19683821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181791070	chr7:19683838-19683839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540628696	chr7:19683840-19683841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565572792	chr7:19683862-19683863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117221308	chr7:19683888-19683889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185305461	chr7:19683928-19683929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148678977	chr7:19683944-19683945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2191938	chr7:19683963-19683964	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76975748	chr7:19683968-19683969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546743331	chr7:19683978-19683979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563759764	chr7:19683979-19683980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532725811	chr7:19683989-19683990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73271905	chr7:19683996-19683997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2191937	chr7:19684019-19684020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551309909	chr7:19684038-19684039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189754671	chr7:19684065-19684066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571200215	chr7:19684077-19684078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536882900	chr7:19684131-19684132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181173802	chr7:19684186-19684187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185513574	chr7:19684204-19684205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77235712	chr7:19684214-19684215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556717214	chr7:19684229-19684230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189539673	chr7:19684256-19684257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181018015	chr7:19684289-19684290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116977887	chr7:19684291-19684292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114406726	chr7:19684292-19684293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200598457	chr7:19684307-19684308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528655186	chr7:19684330-19684331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552743689	chr7:19684333-19684334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568460304	chr7:19684345-19684346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10243037	chr7:19684351-19684352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557409702	chr7:19684359-19684360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535764581	chr7:19684362-19684363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73271907	chr7:19684398-19684399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546802642	chr7:19690013-19690014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562362662	chr7:19690020-19690021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19683600-19684400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:19684000-19684400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:19690000-19691600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:19703000-19703600	Enhancers	HMEC	breast
5	chr7:19703200-19703600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:19703200-19704000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:19703200-19704000	Enhancers	NHEK	skin
8	chr7:19703400-19704000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:19703600-19703800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:19703600-19703800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:19703600-19704000	Active TSS	HMEC	breast
12	chr7:19703600-19704600	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:19703600-19704600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:19703600-19704600	Enhancers	GM12878-XiMat	blood
15	chr7:19703600-19705000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:19703600-19705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:19703600-19705200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:19703800-19704000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:19703800-19704000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:19703800-19704400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr7:19703800-19704800	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:19703800-19704800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:19703800-19705200	Enhancers	Fetal Stomach	stomach
24	chr7:19704000-19704200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:19704000-19704200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:19704000-19704400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr7:19704000-19705200	Enhancers	Primary B cells from cord blood	blood
28	chr7:19704000-19705200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:19704400-19704800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:19704400-19705000	Enhancers	HSMM	muscle
31	chr7:19704600-19705200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:19704600-19707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:19705000-19705200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:19705000-19707600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:19705200-19706400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:19705200-19707600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:19705200-19714000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:19706800-19707000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:19707600-19707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:19707600-19708000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:19707600-19708200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:19707800-19708400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:19708000-19708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:19708400-19708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:19708600-19713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:19710400-19710800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:19710600-19711000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:19713600-19714000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:19713800-19714000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:19713800-19715200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links