Variant report

Variant	nsv525524
Chromosome Location	chr7:66136549-66141303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66130351..66133208-chr7:66135142..66136772,2	K562	blood:
2	chr7:66140247..66145111-chr7:66145587..66148696,5	K562	blood:
3	chr7:66133503..66137997-chr7:66139253..66143655,5	MCF-7	breast:
4	chr7:66134305..66137456-chr7:66140702..66144674,4	K562	blood:
5	chr7:66133503..66137997-chr7:66139253..66143655,5	MCF-7	breast:
6	chr7:66140006..66143902-chr7:66147034..66148710,3	MCF-7	breast:
7	chr7:66134305..66137456-chr7:66140702..66144674,4	K562	blood:
8	chr7:66137517..66139901-chr7:66146060..66148754,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154710	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs2707832	chr7:66136549-66136550	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186854433	chr7:66136580-66136581	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191743555	chr7:66136600-66136601	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183135756	chr7:66136607-66136608	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188230949	chr7:66136649-66136650	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143071917	chr7:66136661-66136662	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191610367	chr7:66136670-66136671	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182310033	chr7:66136674-66136675	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148211453	chr7:66136678-66136679	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572642074	chr7:66136686-66136687	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541323558	chr7:66136696-66136697	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11772636	chr7:66136722-66136723	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs577539784	chr7:66136733-66136734	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543426255	chr7:66136775-66136776	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56342121	chr7:66136822-66136823	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7782235	chr7:66136869-66136870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563300592	chr7:66136915-66136916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116845718	chr7:66136935-66136936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs542784326	chr7:66136952-66136953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113747132	chr7:66137001-66137002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13225406	chr7:66137013-66137014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75582494	chr7:66137022-66137023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186635892	chr7:66137029-66137030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192576207	chr7:66137062-66137063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185580158	chr7:66137072-66137073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541921863	chr7:66137089-66137090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563562521	chr7:66137095-66137096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532595941	chr7:66137098-66137099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535547061	chr7:66137114-66137115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552578741	chr7:66137115-66137116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555450388	chr7:66137135-66137136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560766764	chr7:66137137-66137138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375879547	chr7:66137251-66137252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370206695	chr7:66137253-66137254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536429455	chr7:66137254-66137255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71049474	chr7:66137269-66137270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377644733	chr7:66137282-66137283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374349906	chr7:66137287-66137288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368238706	chr7:66137288-66137289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2707833	chr7:66137327-66137328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs528428906	chr7:66137349-66137350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188499917	chr7:66137350-66137351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs578179703	chr7:66137351-66137352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544173922	chr7:66137367-66137368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193085872	chr7:66137375-66137376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573688826	chr7:66137405-66137406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1267824	chr7:66137438-66137439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568531229	chr7:66137448-66137449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368957894	chr7:66137621-66137622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559418264	chr7:66137645-66137646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66120600-66146000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:66120600-66146200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:66120800-66143600	Weak transcription	GM12878-XiMat	blood
4	chr7:66120800-66146000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:66121000-66139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:66121000-66143600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr7:66121000-66144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:66121000-66146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:66121000-66146200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:66121200-66137800	Weak transcription	HMEC	breast
11	chr7:66121400-66139800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:66121400-66146000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:66121400-66146000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:66121600-66137800	Weak transcription	NH-A	brain
15	chr7:66121600-66144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:66121600-66145400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:66121600-66146200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:66121600-66146200	Weak transcription	HSMMtube	muscle
19	chr7:66121800-66144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:66122200-66138200	Weak transcription	NHDF-Ad	bronchial
21	chr7:66122600-66146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:66127800-66136800	Weak transcription	Hela-S3	cervix
23	chr7:66127800-66146000	Weak transcription	A549	lung
24	chr7:66128000-66138400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:66128000-66144000	Weak transcription	Pancreas	Pancrea
26	chr7:66128000-66144000	Weak transcription	Spleen	Spleen
27	chr7:66128000-66145800	Weak transcription	Primary B cells from cord blood	blood
28	chr7:66128000-66146000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:66128000-66146000	Weak transcription	Fetal Lung	lung
30	chr7:66128000-66146000	Weak transcription	HSMM	muscle
31	chr7:66128000-66146200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:66128000-66146200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:66128000-66146400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:66128400-66138200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:66130200-66136600	Strong transcription	Fetal Stomach	stomach
36	chr7:66131200-66146000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:66132000-66137400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:66132400-66146000	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:66133600-66146000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:66133800-66138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:66134200-66137000	Enhancers	Brain Hippocampus Middle	brain
42	chr7:66134200-66137200	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:66134200-66137800	Weak transcription	Osteobl	bone
44	chr7:66134400-66143800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:66134400-66146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:66134400-66146400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:66134600-66138200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:66134600-66141400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:66134600-66143800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:66134600-66145800	Weak transcription	Thymus	Thymus

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