Variant report

Variant	nsv824081
Chromosome Location	chr7:40363981-40368738
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	chr7:40362786..40364533-chr7:40364996..40369227,3	K562	blood:
2	chr7:40362786..40364533-chr7:40364996..40369227,3	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386712435	chr7:40363999-40364000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58612672	chr7:40364000-40364001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs11764519	chr7:40364011-40364012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374862603	chr7:40364081-40364082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560900327	chr7:40364090-40364091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554768552	chr7:40364144-40364145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386712436	chr7:40364145-40364146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73135058	chr7:40364146-40364147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553933420	chr7:40364169-40364170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534967249	chr7:40364189-40364190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73320577	chr7:40364247-40364248	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549666856	chr7:40364260-40364261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386712437	chr7:40364316-40364317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531601768	chr7:40364344-40364345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549726563	chr7:40364389-40364390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11764628	chr7:40364425-40364426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs17171680	chr7:40364448-40364449	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561960847	chr7:40364486-40364487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10256660	chr7:40364588-40364589	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10227645	chr7:40364609-40364610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184121991	chr7:40364661-40364662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10256791	chr7:40364726-40364727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374041938	chr7:40364777-40364778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148652617	chr7:40364792-40364793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141707172	chr7:40364831-40364832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569287236	chr7:40364840-40364841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12701817	chr7:40364841-40364842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555229665	chr7:40364842-40364843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111717024	chr7:40364844-40364845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34120054	chr7:40364860-40364861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200510832	chr7:40364881-40364882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548460069	chr7:40364915-40364916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568645420	chr7:40364919-40364920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72058007	chr7:40364966-40364967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370391623	chr7:40365031-40365032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534106446	chr7:40365076-40365077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77154836	chr7:40365078-40365079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35458788	chr7:40365083-40365084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577302708	chr7:40365129-40365130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539920971	chr7:40365232-40365233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371619155	chr7:40365233-40365234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142877052	chr7:40365266-40365267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576496544	chr7:40365297-40365298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373766021	chr7:40365303-40365304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573767979	chr7:40365340-40365341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542154679	chr7:40365356-40365357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561787456	chr7:40365384-40365385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531209674	chr7:40365399-40365400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540833728	chr7:40365445-40365446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564289539	chr7:40365493-40365494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40356200-40366600	Weak transcription	Liver	Liver
2	chr7:40356600-40365600	Weak transcription	HSMM	muscle
3	chr7:40363200-40372000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40363800-40369600	Weak transcription	Fetal Heart	heart
5	chr7:40364200-40364400	Enhancers	Aorta	Aorta
6	chr7:40364200-40364600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:40364200-40364800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:40364200-40364800	Enhancers	Osteobl	bone
9	chr7:40364200-40365000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:40364200-40365200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:40364200-40365800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:40364200-40366200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:40364400-40364800	Enhancers	NH-A	brain
14	chr7:40364400-40365000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:40364400-40370600	Weak transcription	Aorta	Aorta
16	chr7:40364600-40364800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:40364800-40365600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:40364800-40367400	Weak transcription	Osteobl	bone
19	chr7:40364800-40369600	Weak transcription	NH-A	brain
20	chr7:40365000-40367400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:40365000-40371200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:40365200-40371600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:40365600-40365800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:40365600-40365800	Enhancers	HSMM	muscle
25	chr7:40365600-40366000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:40365800-40367400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:40366200-40369400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:40366600-40367000	Enhancers	Liver	Liver
29	chr7:40367400-40367800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:40367400-40367800	Enhancers	Osteobl	bone
31	chr7:40367400-40368000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:40367400-40368000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:40367400-40368000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:40367400-40368200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:40367800-40368000	Enhancers	NHDF-Ad	bronchial
36	chr7:40367800-40369400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:40367800-40369400	Weak transcription	Osteobl	bone
38	chr7:40368000-40369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:40368000-40369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:40368000-40369400	Weak transcription	NHDF-Ad	bronchial
41	chr7:40368400-40368600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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