Variant report

Variant	nsv1002709
Chromosome Location	chr1:70916210-70939526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70925833..70928012-chr1:70929131..70931181,2	K562	blood:
2	chr1:70920653..70923423-chr1:70924273..70927501,3	K562	blood:
3	chr1:70920653..70923423-chr1:70924273..70927501,3	K562	blood:
4	chr1:70925833..70928012-chr1:70929131..70931181,2	K562	blood:

Extended variants
information (count: 665 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182694074	chr1:70916295-70916296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55952366	chr1:70916308-70916309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117729292	chr1:70916329-70916330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539774934	chr1:70916335-70916336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117913373	chr1:70916337-70916338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573167952	chr1:70916347-70916348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541436988	chr1:70916356-70916357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534686097	chr1:70916365-70916366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186829322	chr1:70916393-70916394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540190293	chr1:70916415-70916416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376103414	chr1:70916417-70916418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192916796	chr1:70916425-70916426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185181124	chr1:70916468-70916469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149753946	chr1:70916520-70916521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145604677	chr1:70916547-70916548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77759767	chr1:70916548-70916549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9633291	chr1:70916559-70916560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs138253699	chr1:70916566-70916567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562461580	chr1:70916569-70916570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548565515	chr1:70916625-70916626	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111610676	chr1:70916633-70916634	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568358617	chr1:70916639-70916640	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374133773	chr1:70916640-70916641	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531072442	chr1:70916676-70916677	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55932687	chr1:70916701-70916702	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185447647	chr1:70916720-70916721	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570586631	chr1:70916721-70916722	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539662996	chr1:70916722-70916723	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553112893	chr1:70916730-70916731	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551436004	chr1:70916809-70916810	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35905608	chr1:70916900-70916901	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189913282	chr1:70916904-70916905	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367711909	chr1:70916934-70916935	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546873725	chr1:70916960-70916961	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142434820	chr1:70917053-70917054	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555383268	chr1:70917063-70917064	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs371816942	chr1:70917077-70917078	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs12562408	chr1:70917116-70917117	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs544322358	chr1:70917174-70917175	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557590173	chr1:70917203-70917204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564559014	chr1:70917206-70917207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577777878	chr1:70917231-70917232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567021686	chr1:70917233-70917234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528701350	chr1:70917255-70917256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546849408	chr1:70917354-70917355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568417853	chr1:70917355-70917356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146541842	chr1:70917378-70917379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12564348	chr1:70917390-70917391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs193289343	chr1:70917432-70917433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542546491	chr1:70917530-70917531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Esophageal cancer	21851588	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70908400-70918600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:70909000-70928200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:70913000-70916400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:70916400-70916600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:70916600-70916800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:70916600-70916800	Enhancers	NHDF-Ad	bronchial
7	chr1:70916800-70917200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:70916800-70917200	Active TSS	NHDF-Ad	bronchial
9	chr1:70916800-70917200	Active TSS	Osteobl	bone
10	chr1:70916800-70918000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:70917000-70917200	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr1:70917200-70925600	Weak transcription	NHDF-Ad	bronchial
13	chr1:70918000-70919400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:70918800-70919400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:70919400-70919600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:70919600-70920000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:70920000-70920200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:70920200-70921000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:70921000-70921400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:70921000-70921600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:70921400-70921600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:70921600-70922400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:70921600-70923200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:70922400-70923200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:70922800-70925800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:70923000-70923200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:70923200-70923400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:70923200-70923400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:70923200-70924000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:70923200-70924200	Enhancers	Brain Substantia Nigra	brain
31	chr1:70923200-70924400	Enhancers	Brain Cingulate Gyrus	brain
32	chr1:70923200-70924600	Enhancers	Brain Hippocampus Middle	brain
33	chr1:70923200-70924800	Enhancers	Fetal Brain Male	brain
34	chr1:70923400-70923600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:70923400-70923800	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:70923400-70923800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:70923400-70924400	Enhancers	Brain Anterior Caudate	brain
38	chr1:70923400-70924400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:70923400-70924800	Enhancers	Fetal Brain Female	brain
40	chr1:70923600-70924000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:70923600-70924600	Enhancers	Brain Angular Gyrus	brain
42	chr1:70923800-70924000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:70923800-70924000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:70923800-70924200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:70923800-70924600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:70923800-70924600	Enhancers	K562	blood
47	chr1:70923800-70925600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:70923800-70926000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:70924000-70924400	Enhancers	Primary hematopoietic stem cells	blood
50	chr1:70924000-70924400	Enhancers	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links