Variant report

Variant	nsv428763
Chromosome Location	chr1:72353556-72499701
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:
2	chr1:72483188..72484849-chr1:72487728..72489377,2	K562	blood:
3	chr1:72472788..72474801-chr1:72492789..72495541,2	K562	blood:
4	chr1:72497090..72498877-chr1:72501866..72504493,2	K562	blood:
5	chr1:72495707..72498590-chr1:72500903..72503366,2	K562	blood:
6	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:
7	chr1:72487764..72489951-chr1:72495667..72497783,2	K562	blood:
8	chr1:72381957..72383996-chr1:72389950..72392631,2	K562	blood:
9	chr1:72487764..72489951-chr1:72495667..72497783,2	K562	blood:
10	chr1:72472788..72474801-chr1:72492789..72495541,2	K562	blood:
11	chr1:72488016..72488819-chr1:72503014..72503883,2	K562	blood:
12	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:
13	chr1:72399874..72402263-chr1:72409207..72411359,2	K562	blood:
14	chr1:72483188..72484849-chr1:72487728..72489377,2	K562	blood:
15	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:
16	chr1:72399874..72402263-chr1:72409207..72411359,2	K562	blood:
17	chr1:72381957..72383996-chr1:72389950..72392631,2	K562	blood:

No data

Extended variants
information (count: 4151 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:4151 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12048545	chr1:72353558-72353559	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146214933	chr1:72353559-72353560	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12048549	chr1:72353565-72353566	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566574979	chr1:72353582-72353583	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539487107	chr1:72353584-72353585	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371155495	chr1:72353676-72353677	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553045356	chr1:72353703-72353704	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59227226	chr1:72353712-72353713	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59018476	chr1:72353714-72353715	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs57794150	chr1:72353716-72353717	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189174383	chr1:72353763-72353764	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566882880	chr1:72353766-72353767	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193072789	chr1:72353847-72353848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370735039	chr1:72353849-72353850	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183012901	chr1:72353858-72353859	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187585411	chr1:72353871-72353872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs474680	chr1:72353907-72353908	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570508811	chr1:72353933-72353934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577703536	chr1:72353947-72353948	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540278766	chr1:72353949-72353950	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150939571	chr1:72353958-72353959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12082919	chr1:72353997-72353998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542728045	chr1:72354043-72354044	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191111017	chr1:72354054-72354055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs531016666	chr1:72354118-72354119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs550851397	chr1:72354129-72354130	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564485352	chr1:72354138-72354139	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs370299431	chr1:72354139-72354140	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533137760	chr1:72354142-72354143	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs368292369	chr1:72354157-72354158	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546625397	chr1:72354171-72354172	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs370872914	chr1:72354180-72354181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs566876491	chr1:72354181-72354182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11805633	chr1:72354193-72354194	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184028990	chr1:72354200-72354201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs549460371	chr1:72354222-72354223	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs367673570	chr1:72354238-72354239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558082313	chr1:72354239-72354240	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs578024194	chr1:72354256-72354257	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534094144	chr1:72354257-72354258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546447763	chr1:72354260-72354261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs371887300	chr1:72354263-72354264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs568279556	chr1:72354270-72354271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570533081	chr1:72364864-72364865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138471610	chr1:72364881-72364882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78256097	chr1:72364895-72364896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191631248	chr1:72364898-72364899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375556700	chr1:72364957-72364958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115289672	chr1:72364989-72364990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575644886	chr1:72365012-72365013	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
small cell lung cancer	20016488	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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72349800-72353600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:72353200-72353600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:72353200-72353600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:72353400-72353600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:72353400-72353800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:72353400-72353800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:72353400-72354400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:72353600-72353800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:72353600-72354000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:72353600-72354400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:72353600-72354400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:72353600-72354400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:72364800-72365600	Enhancers	Fetal Stomach	stomach
14	chr1:72364800-72366000	Enhancers	Colon Smooth Muscle	Colon
15	chr1:72365400-72366000	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:72365800-72366000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:72366000-72371800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:72366000-72374000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:72367800-72368200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr1:72368200-72369200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:72369200-72369400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:72369400-72374800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:72371800-72372000	Enhancers	Colon Smooth Muscle	Colon
24	chr1:72372000-72372400	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:72372400-72372600	Enhancers	Colon Smooth Muscle	Colon
26	chr1:72372600-72377200	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:72374000-72374400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:72374000-72374400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:72374000-72374400	Enhancers	Brain Substantia Nigra	brain
30	chr1:72374000-72374400	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:72374000-72375000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:72374000-72375200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:72374200-72374800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:72374200-72375000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:72374200-72375000	Enhancers	Fetal Stomach	stomach
36	chr1:72374200-72375000	Enhancers	Dnd41	blood
37	chr1:72374200-72375200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:72374600-72375000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:72374600-72375000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:72374800-72375000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:72374800-72375400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:72375200-72379600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:72377200-72377400	Enhancers	Colon Smooth Muscle	Colon
44	chr1:72380000-72380800	Enhancers	Osteobl	bone
45	chr1:72380800-72381800	Weak transcription	Osteobl	bone
46	chr1:72382600-72382800	Enhancers	Osteobl	bone
47	chr1:72384000-72384200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr1:72384000-72388000	Enhancers	Liver	Liver
49	chr1:72384600-72385000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr1:72385200-72386000	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links