Variant report

Variant	nsv545385
Chromosome Location	chr1:10482583-10483161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10480824..10482719-chr1:10531236..10533762,2	K562	blood:
2	chr1:10474196..10477325-chr1:10477463..10484153,8	K562	blood:
3	chr1:10417330..10419820-chr1:10480235..10483214,2	K562	blood:
4	chr1:10474880..10479716-chr1:10481883..10486910,5	K562	blood:
5	chr1:10458949..10460563-chr1:10481035..10483154,2	MCF-7	breast:
6	chr1:10456065..10459752-chr1:10480399..10483247,3	K562	blood:

Variant related genes	Relation type
ENSG00000160049	chromatin interactions
ENSG00000142655	chromatin interactions
ENSG00000142657	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548879320	chr1:10482630-10482631	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs151334890	chr1:10482641-10482642	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191816185	chr1:10482654-10482655	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs184702609	chr1:10482762-10482763	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552341592	chr1:10482770-10482771	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140539452	chr1:10482776-10482777	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150468539	chr1:10482778-10482779	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188042118	chr1:10482796-10482797	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540798364	chr1:10482818-10482819	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535076042	chr1:10482887-10482888	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557253940	chr1:10482952-10482953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72867481	chr1:10482953-10482954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567084079	chr1:10482957-10482958	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs112497724	chr1:10483011-10483012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142463391	chr1:10483028-10483029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540187184	chr1:10483091-10483092	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541548861	chr1:10483092-10483093	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs559554559	chr1:10483121-10483122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10460000-10490200	Weak transcription	Psoas Muscle	Psoas
2	chr1:10460800-10483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:10461200-10490000	Weak transcription	Right Atrium	heart
4	chr1:10461400-10483000	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:10461400-10483000	Strong transcription	Fetal Intestine Small	intestine
6	chr1:10461400-10483400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:10461600-10482800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:10462000-10483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:10462200-10483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:10462800-10482600	Strong transcription	Brain Anterior Caudate	brain
11	chr1:10462800-10483400	Strong transcription	Fetal Brain Female	brain
12	chr1:10464400-10482800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:10468800-10489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:10472000-10490000	Weak transcription	Stomach Mucosa	stomach
15	chr1:10473600-10488000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:10474200-10488000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:10475600-10489600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:10475800-10490000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:10476600-10483600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:10476800-10484800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:10477000-10482600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:10477600-10482800	Genic enhancers	A549	lung
23	chr1:10477800-10490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:10477800-10490000	Weak transcription	Fetal Heart	heart
25	chr1:10478000-10482800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:10478200-10488000	Weak transcription	Fetal Kidney	kidney
27	chr1:10478200-10490000	Weak transcription	Fetal Brain Male	brain
28	chr1:10478400-10488000	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:10479800-10482600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:10479800-10484000	Weak transcription	NHDF-Ad	bronchial
31	chr1:10479800-10490200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:10480200-10484400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:10480200-10490000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:10480200-10490000	Weak transcription	Pancreas	Pancrea
35	chr1:10480200-10490400	Weak transcription	Aorta	Aorta
36	chr1:10480400-10489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:10480400-10489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:10480400-10490000	Weak transcription	Colonic Mucosa	Colon
39	chr1:10480400-10490000	Weak transcription	Small Intestine	intestine
40	chr1:10480400-10490000	Weak transcription	NH-A	brain
41	chr1:10480600-10488000	Weak transcription	Brain Substantia Nigra	brain
42	chr1:10480600-10489600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:10480600-10489800	Weak transcription	Hela-S3	cervix
44	chr1:10480800-10483800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:10480800-10484200	Weak transcription	Brain Angular Gyrus	brain
46	chr1:10480800-10485600	Weak transcription	HepG2	liver
47	chr1:10480800-10486400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:10480800-10487800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:10480800-10488000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:10480800-10488000	Weak transcription	Rectal Smooth Muscle	rectum

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