Variant report

Variant	nsv437970
Chromosome Location	chr1:10375179-10378416
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	chr1:10362813..10365795-chr1:10373892..10375674,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7553935	chr1:10375179-10375180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373844640	chr1:10375229-10375230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545794194	chr1:10375331-10375332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113691261	chr1:10375334-10375335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573222436	chr1:10375347-10375348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540513026	chr1:10375348-10375349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561898267	chr1:10375434-10375435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529123502	chr1:10375440-10375441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370287161	chr1:10375449-10375450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528874556	chr1:10375499-10375500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563812817	chr1:10375501-10375502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530898673	chr1:10375558-10375559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552586092	chr1:10375564-10375565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539180290	chr1:10375628-10375629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557232383	chr1:10375631-10375632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570733214	chr1:10375632-10375633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535017730	chr1:10375652-10375653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546902705	chr1:10375722-10375723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141727426	chr1:10375797-10375798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575531677	chr1:10375874-10375875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542257023	chr1:10375880-10375881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187392235	chr1:10375885-10375886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190219707	chr1:10375907-10375908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370949790	chr1:10375911-10375912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150570357	chr1:10376075-10376076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181642103	chr1:10376091-10376092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572633818	chr1:10376128-10376129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539158916	chr1:10376149-10376150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186245063	chr1:10376167-10376168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572860783	chr1:10376175-10376176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35809122	chr1:10376279-10376280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34533851	chr1:10376282-10376283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397715269	chr1:10376283-10376284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200844995	chr1:10376291-10376292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540200652	chr1:10376313-10376314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185973852	chr1:10376384-10376385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80314023	chr1:10376437-10376438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550704814	chr1:10376493-10376494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139305003	chr1:10376494-10376495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552371773	chr1:10376512-10376513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376411558	chr1:10376565-10376566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528492285	chr1:10376593-10376594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546545576	chr1:10376622-10376623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568426059	chr1:10376628-10376629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529552529	chr1:10376641-10376642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562811123	chr1:10376645-10376646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551204696	chr1:10376666-10376667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190538575	chr1:10376690-10376691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12734068	chr1:10376803-10376804	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs549426489	chr1:10376817-10376818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Neuroblastoma	20406844	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
Medullary thyroid carcinoma	18765511	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
5	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
6	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:10363000-10379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:10363800-10380000	Weak transcription	A549	lung
11	chr1:10364200-10381800	Weak transcription	Gastric	stomach
12	chr1:10364200-10394600	Weak transcription	Dnd41	blood
13	chr1:10364400-10380000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:10364400-10384800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:10364600-10379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:10364600-10381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:10364600-10381800	Weak transcription	Esophagus	oesophagus
18	chr1:10364600-10381800	Weak transcription	Pancreas	Pancrea
19	chr1:10364600-10382200	Weak transcription	Colonic Mucosa	Colon
20	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:10364800-10381800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:10364800-10381800	Weak transcription	Fetal Stomach	stomach
23	chr1:10364800-10381800	Weak transcription	Spleen	Spleen
24	chr1:10364800-10383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:10364800-10386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:10364800-10386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:10364800-10386000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:10365000-10379600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:10365000-10381600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:10365000-10381800	Weak transcription	Aorta	Aorta
33	chr1:10365000-10381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:10365000-10383800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:10365000-10385800	Weak transcription	NHEK	skin
36	chr1:10365200-10398400	Weak transcription	Fetal Heart	heart
37	chr1:10365600-10382400	Weak transcription	NHLF	lung
38	chr1:10365600-10383800	Weak transcription	HMEC	breast
39	chr1:10365600-10385600	Weak transcription	Hela-S3	cervix
40	chr1:10365800-10379800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:10365800-10379800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:10365800-10379800	Weak transcription	Fetal Kidney	kidney
43	chr1:10365800-10394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:10366000-10378000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:10366000-10378400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:10366000-10381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:10366400-10378000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:10366800-10381800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:10366800-10381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:10366800-10381800	Weak transcription	Fetal Intestine Large	intestine

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