Variant report

Variant	nsv966830
Chromosome Location	chr7:65412339-65413788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151030420	chr7:65412370-65412371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189012570	chr7:65412373-65412374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534260767	chr7:65412402-65412403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58878681	chr7:65412418-65412419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545960906	chr7:65412438-65412439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200200294	chr7:65412501-65412502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556419942	chr7:65412611-65412612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531368540	chr7:65412616-65412617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142478451	chr7:65412622-65412623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554431865	chr7:65412682-65412683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78625312	chr7:65412694-65412695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74581456	chr7:65412695-65412696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181494486	chr7:65412747-65412748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184261713	chr7:65412750-65412751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188496794	chr7:65412756-65412757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180900525	chr7:65412778-65412779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11771268	chr7:65412823-65412824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138117703	chr7:65412905-65412906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550328977	chr7:65412910-65412911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569889386	chr7:65412911-65412912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186053792	chr7:65412923-65412924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34804747	chr7:65412942-65412943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs565841980	chr7:65412973-65412974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535005577	chr7:65412979-65412980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557898795	chr7:65413028-65413029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192134315	chr7:65413051-65413052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539324201	chr7:65413055-65413056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556511994	chr7:65413126-65413127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs3108160	chr7:65413129-65413130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576263701	chr7:65413174-65413175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1723271	chr7:65413211-65413212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542048377	chr7:65413238-65413239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35260440	chr7:65413309-65413310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs572086882	chr7:65413310-65413311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541006798	chr7:65413330-65413331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563954568	chr7:65413349-65413350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200662309	chr7:65413377-65413378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543676650	chr7:65413466-65413467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62470923	chr7:65413553-65413554	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs377657189	chr7:65413715-65413716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:65368800-65418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:65368800-65419000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:65373800-65424000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:65375000-65418800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:65375600-65419800	Weak transcription	HSMMtube	muscle
7	chr7:65379200-65419000	Weak transcription	Fetal Thymus	thymus
8	chr7:65381800-65420200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:65382000-65420600	Weak transcription	Primary B cells from cord blood	blood
10	chr7:65382800-65419800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:65383200-65419000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:65383800-65419600	Weak transcription	GM12878-XiMat	blood
13	chr7:65389400-65423800	Weak transcription	Aorta	Aorta
14	chr7:65390400-65419000	Weak transcription	Thymus	Thymus
15	chr7:65390600-65423800	Weak transcription	Gastric	stomach
16	chr7:65392600-65418400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:65392800-65412600	Weak transcription	Pancreas	Pancrea
18	chr7:65393200-65419600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:65393400-65419000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:65395600-65420400	Weak transcription	Esophagus	oesophagus
21	chr7:65395800-65420000	Weak transcription	Fetal Lung	lung
22	chr7:65396600-65418600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:65396800-65416800	Weak transcription	Hela-S3	cervix
24	chr7:65396800-65420000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:65397400-65419600	Weak transcription	Left Ventricle	heart
26	chr7:65399200-65425000	Weak transcription	Small Intestine	intestine
27	chr7:65399800-65419600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:65400200-65420200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:65400800-65420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:65401000-65417200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:65401200-65420000	Weak transcription	HUVEC	blood vessel
32	chr7:65401200-65423800	Weak transcription	Spleen	Spleen
33	chr7:65401400-65425000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:65401800-65425000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:65402000-65420200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:65402000-65424800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:65402000-65425000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:65402200-65419000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:65402400-65419400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:65402800-65417800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:65403800-65419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:65403800-65419600	Weak transcription	Osteobl	bone
43	chr7:65404000-65418800	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:65404000-65420400	Weak transcription	HSMM	muscle
45	chr7:65404200-65417800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:65404200-65418400	Weak transcription	K562	blood
47	chr7:65404200-65418800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:65404400-65416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:65404400-65419000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:65404400-65419000	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links