Variant report

Variant	nsv517724
Chromosome Location	chr7:66140595-66141303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66134305..66137456-chr7:66140702..66144674,4	K562	blood:
2	chr7:66140006..66143902-chr7:66147034..66148710,3	MCF-7	breast:
3	chr7:66140247..66145111-chr7:66145587..66148696,5	K562	blood:
4	chr7:66133503..66137997-chr7:66139253..66143655,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154710	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10479728	chr7:66140595-66140596	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185915255	chr7:66140640-66140641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553967264	chr7:66140641-66140642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114073617	chr7:66140674-66140675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190286235	chr7:66140709-66140710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558984322	chr7:66140733-66140734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs182559984	chr7:66140752-66140753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544671365	chr7:66140842-66140843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529008955	chr7:66140911-66140912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368155198	chr7:66140915-66140916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186886177	chr7:66140961-66140962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574945765	chr7:66141071-66141072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11773829	chr7:66141074-66141075	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs370962278	chr7:66141119-66141120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189772139	chr7:66141144-66141145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184046735	chr7:66141145-66141146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189033322	chr7:66141177-66141178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs193002345	chr7:66141200-66141201	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562094527	chr7:66141216-66141217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs117621947	chr7:66141229-66141230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547844405	chr7:66141261-66141262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542705291	chr7:66141269-66141270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546045623	chr7:66141274-66141275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112825882	chr7:66141275-66141276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568046579	chr7:66141276-66141277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9654843	chr7:66141303-66141304	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:83 , 50 per page) page: 1 2

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	chr7:66121000-66143600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:66121000-66144000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:66121000-66146200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:66121000-66146200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:66121400-66146000	Weak transcription	Adipose Nuclei	Adipose
10	chr7:66121400-66146000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:66121600-66144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:66121600-66145400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:66121600-66146200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:66121600-66146200	Weak transcription	HSMMtube	muscle
15	chr7:66121800-66144000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:66122600-66146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:66127800-66146000	Weak transcription	A549	lung
18	chr7:66128000-66144000	Weak transcription	Pancreas	Pancrea
19	chr7:66128000-66144000	Weak transcription	Spleen	Spleen
20	chr7:66128000-66145800	Weak transcription	Primary B cells from cord blood	blood
21	chr7:66128000-66146000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:66128000-66146000	Weak transcription	Fetal Lung	lung
23	chr7:66128000-66146000	Weak transcription	HSMM	muscle
24	chr7:66128000-66146200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:66128000-66146200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:66128000-66146400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:66131200-66146000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:66132400-66146000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:66133600-66146000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr7:66134400-66143800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:66134400-66146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:66134400-66146400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:66134600-66141400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr7:66134600-66143800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:66134600-66145800	Weak transcription	Thymus	Thymus
36	chr7:66135000-66144800	Weak transcription	Dnd41	blood
37	chr7:66135000-66145800	Weak transcription	Placenta	Placenta
38	chr7:66135000-66146000	Weak transcription	Brain Germinal Matrix	brain
39	chr7:66135200-66143800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:66135200-66144400	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:66135200-66145800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr7:66135200-66146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:66135200-66146200	Weak transcription	Fetal Brain Female	brain
44	chr7:66135200-66146200	Weak transcription	NHLF	lung
45	chr7:66135200-66146400	Weak transcription	Lung	lung
46	chr7:66135200-66146400	Weak transcription	Ovary	ovary
47	chr7:66135400-66143600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:66135400-66144000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:66135400-66145200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:66135400-66146000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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