Variant report

Variant	nsv1011915
Chromosome Location	chr1:75879330-75934553
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	chr1:75891109..75893224-chr1:75895792..75897457,2	K562	blood:
2	chr1:75933652..75935311-chr1:76250222..76252176,2	K562	blood:
3	chr1:75900200..75901997-chr1:75902779..75905400,2	K562	blood:
4	chr1:75900200..75901997-chr1:75902779..75905400,2	K562	blood:
5	chr1:75891109..75893224-chr1:75895792..75897457,2	K562	blood:
6	chr1:75913816..75916653-chr1:75939102..75941877,2	K562	blood:
7	chr1:75887927..75890320-chr1:76006872..76008474,2	K562	blood:
8	chr1:75755636..75758198-chr1:75891029..75893003,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137955	chromatin interactions

Extended variants
information (count: 749 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540992279	chr1:75883605-75883606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1936358	chr1:75883606-75883607	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs377168508	chr1:75883667-75883668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188840877	chr1:75883691-75883692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545157271	chr1:75883838-75883839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369014650	chr1:75883948-75883949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539931294	chr1:75883973-75883974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553538677	chr1:75884004-75884005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531088644	chr1:75884051-75884052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2972005	chr1:75884144-75884145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs113454524	chr1:75884178-75884179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181121466	chr1:75884231-75884232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1778459	chr1:75884232-75884233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs546570184	chr1:75884236-75884237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369381018	chr1:75884284-75884285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571343531	chr1:75884303-75884304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55687039	chr1:75884343-75884344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12082807	chr1:75884377-75884378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114716997	chr1:75884385-75884386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185327432	chr1:75884386-75884387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150976293	chr1:75884394-75884395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74089232	chr1:75884420-75884421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs140998233	chr1:75884479-75884480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575853270	chr1:75884485-75884486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544578412	chr1:75884491-75884492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189713369	chr1:75884515-75884516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527743949	chr1:75884531-75884532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538677927	chr1:75884537-75884538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149807574	chr1:75884545-75884546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577761044	chr1:75884546-75884547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545026784	chr1:75884590-75884591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182767837	chr1:75884700-75884701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575259272	chr1:75884723-75884724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146809524	chr1:75884833-75884834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561353835	chr1:75884837-75884838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79688527	chr1:75884880-75884881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3899859	chr1:75884904-75884905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs187320263	chr1:75884928-75884929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564932401	chr1:75884947-75884948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532324029	chr1:75884959-75884960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377398459	chr1:75885025-75885026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569296621	chr1:75885036-75885037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192272531	chr1:75885094-75885095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539427338	chr1:75885099-75885100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549139352	chr1:75885104-75885105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553508402	chr1:75885149-75885150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200928087	chr1:75885157-75885158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3845362	chr1:75885158-75885159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs140557517	chr1:75885177-75885178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553258967	chr1:75885190-75885191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	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
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	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
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75883600-75883800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:75883800-75889000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:75885600-75886000	Enhancers	K562	blood
4	chr1:75886000-75887600	Weak transcription	K562	blood
5	chr1:75887000-75887400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:75887400-75889800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:75887600-75888200	Enhancers	K562	blood
8	chr1:75888200-75889000	Flanking Active TSS	K562	blood
9	chr1:75888800-75894600	Enhancers	Fetal Heart	heart
10	chr1:75889000-75889200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:75889000-75889400	Active TSS	K562	blood
12	chr1:75889200-75889600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:75889400-75889600	Flanking Active TSS	K562	blood
14	chr1:75889400-75889800	Enhancers	Fetal Brain Male	brain
15	chr1:75889400-75890200	Enhancers	Pancreas	Pancrea
16	chr1:75889600-75890000	Enhancers	K562	blood
17	chr1:75889800-75891200	Weak transcription	Fetal Brain Male	brain
18	chr1:75890000-75891000	Weak transcription	K562	blood
19	chr1:75890200-75891200	Weak transcription	Pancreas	Pancrea
20	chr1:75891000-75891600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:75891000-75892800	Enhancers	K562	blood
22	chr1:75891200-75892600	Enhancers	Fetal Brain Male	brain
23	chr1:75891400-75891600	Enhancers	Pancreas	Pancrea
24	chr1:75892800-75893600	Weak transcription	K562	blood
25	chr1:75893600-75893800	Enhancers	K562	blood
26	chr1:75893800-75894600	Weak transcription	K562	blood
27	chr1:75895600-75896000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:75895800-75898000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:75901400-75904200	Weak transcription	K562	blood
30	chr1:75903800-75904400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:75903800-75904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:75904200-75904400	Enhancers	K562	blood
33	chr1:75904400-75906000	Weak transcription	K562	blood
34	chr1:75906000-75906400	Enhancers	K562	blood
35	chr1:75914800-75915000	Enhancers	K562	blood
36	chr1:75915000-75915800	Weak transcription	K562	blood
37	chr1:75915800-75916200	Enhancers	K562	blood
38	chr1:75915800-75916400	Weak transcription	Pancreas	Pancrea
39	chr1:75916400-75916600	Enhancers	Pancreas	Pancrea
40	chr1:75916400-75916800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links