Variant report

Variant	nsv366532
Chromosome Location	chr7:147855334-147861703
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	chr7:147851361..147853923-chr7:147858125..147859807,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76501298	chr7:147856214-147856215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535339252	chr7:147856220-147856221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557848520	chr7:147856305-147856306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549059992	chr7:147856333-147856334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578089350	chr7:147856344-147856345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182370028	chr7:147856376-147856377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34159361	chr7:147856386-147856387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74391954	chr7:147856391-147856392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574193291	chr7:147856397-147856398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541616020	chr7:147856405-147856406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562572295	chr7:147856448-147856449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184464549	chr7:147856449-147856450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368117416	chr7:147856464-147856465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533374102	chr7:147856477-147856478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541351703	chr7:147856521-147856522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563717841	chr7:147856576-147856577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532812532	chr7:147856579-147856580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188861313	chr7:147856588-147856589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370960568	chr7:147856621-147856622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374360583	chr7:147856636-147856637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55897101	chr7:147856675-147856676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566293966	chr7:147856686-147856687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567077643	chr7:147856695-147856696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534983125	chr7:147856735-147856736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370373137	chr7:147856740-147856741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552096619	chr7:147856752-147856753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181447080	chr7:147856755-147856756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537403038	chr7:147856785-147856786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557397650	chr7:147856800-147856801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576686835	chr7:147860809-147860810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545096802	chr7:147860836-147860837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559770055	chr7:147860839-147860840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6959769	chr7:147860843-147860844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs181286366	chr7:147860907-147860908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572430843	chr7:147860973-147860974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34762666	chr7:147860998-147860999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527900970	chr7:147861017-147861018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541565242	chr7:147861026-147861027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186087897	chr7:147861066-147861067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189364915	chr7:147861068-147861069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546029920	chr7:147861083-147861084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562593724	chr7:147861091-147861092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148285994	chr7:147861095-147861096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547841147	chr7:147861218-147861219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112297062	chr7:147861243-147861244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527376406	chr7:147861246-147861247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542778529	chr7:147861279-147861280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150365782	chr7:147861324-147861325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180755639	chr7:147861348-147861349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539607018	chr7:147861374-147861375	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147856200-147856800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr7:147860800-147861600	Enhancers	Fetal Heart	heart

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