Variant report

Variant	nsv8067
Chromosome Location	chr7:19548204-19550157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576007650	chr7:19548204-19548205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140300426	chr7:19548242-19548243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114624149	chr7:19548245-19548246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144473833	chr7:19548297-19548298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28482990	chr7:19548302-19548303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs561791599	chr7:19548336-19548337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528918990	chr7:19548360-19548361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17141503	chr7:19548451-19548452	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147855217	chr7:19548500-19548501	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183034477	chr7:19548516-19548517	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551211790	chr7:19548547-19548548	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571330378	chr7:19548579-19548580	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570950387	chr7:19548586-19548587	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566349279	chr7:19548620-19548621	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533705504	chr7:19548624-19548625	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553225772	chr7:19548641-19548642	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11543656	chr7:19548656-19548657	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143650542	chr7:19548659-19548660	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535527658	chr7:19548719-19548720	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557315115	chr7:19548729-19548730	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192834688	chr7:19548744-19548745	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546523441	chr7:19548754-19548755	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374397111	chr7:19548785-19548786	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4721778	chr7:19548842-19548843	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs116670532	chr7:19548843-19548844	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540808487	chr7:19548872-19548873	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561660382	chr7:19548879-19548880	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142632174	chr7:19548886-19548887	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386710953	chr7:19548906-19548907	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4721780	chr7:19548908-19548909	Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146275140	chr7:19548939-19548940	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368548297	chr7:19548943-19548944	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112589558	chr7:19548975-19548976	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35579648	chr7:19548976-19548977	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201470145	chr7:19548994-19548995	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4719563	chr7:19549012-19549013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116267696	chr7:19549017-19549018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112470205	chr7:19549035-19549036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549155996	chr7:19549049-19549050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183069327	chr7:19549053-19549054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535955162	chr7:19549068-19549069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557129139	chr7:19549117-19549118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144981714	chr7:19549123-19549124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138785985	chr7:19549127-19549128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558525977	chr7:19549132-19549133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187768514	chr7:19549136-19549137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540519023	chr7:19549141-19549142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555935508	chr7:19549156-19549157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4719564	chr7:19549162-19549163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs62446652	chr7:19549163-19549164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19547600-19548600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:19547600-19548600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:19547600-19549000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:19547800-19548400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:19547800-19548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:19547800-19548800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:19547800-19548800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:19547800-19549000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:19548000-19548800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:19548000-19548800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr7:19548000-19548800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:19548000-19549600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:19548200-19548600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:19548400-19548800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:19548400-19549000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:19548600-19548800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:19548800-19549400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:19548800-19559000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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