Variant report

Variant	nsv1210
Chromosome Location	chr1:67017295-67033203
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	chr1:67008052..67009564-chr1:67023947..67025718,2	K562	blood:

Extended variants
information (count: 603 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:603 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563391967	chr1:67017315-67017316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576931837	chr1:67017334-67017335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188576311	chr1:67017336-67017337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559918253	chr1:67017396-67017397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115817034	chr1:67017417-67017418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371628330	chr1:67017440-67017441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141643652	chr1:67017447-67017448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78022333	chr1:67017483-67017484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78607694	chr1:67017498-67017499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185257728	chr1:67017501-67017502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549806229	chr1:67017512-67017513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569729033	chr1:67017528-67017529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532262421	chr1:67017531-67017532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552060818	chr1:67017556-67017557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565847693	chr1:67017679-67017680	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139522736	chr1:67017684-67017685	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554840937	chr1:67017709-67017710	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533921572	chr1:67017737-67017738	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548783553	chr1:67017744-67017745	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537005429	chr1:67017762-67017763	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190798456	chr1:67017771-67017772	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12061766	chr1:67017795-67017796	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375704039	chr1:67017815-67017816	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112998413	chr1:67017834-67017835	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546254998	chr1:67017841-67017842	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553224045	chr1:67017883-67017884	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371042961	chr1:67017884-67017885	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75730644	chr1:67017889-67017890	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182094789	chr1:67017917-67017918	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574273585	chr1:67017950-67017951	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147405615	chr1:67017960-67017961	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139710751	chr1:67017974-67017975	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368073306	chr1:67018027-67018028	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537407896	chr1:67018063-67018064	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs112393610	chr1:67018066-67018067	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145292538	chr1:67018075-67018076	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs552237471	chr1:67018077-67018078	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565681896	chr1:67018081-67018082	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs147650444	chr1:67018118-67018119	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548090322	chr1:67018186-67018187	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187199374	chr1:67018235-67018236	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148711835	chr1:67018303-67018304	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561086941	chr1:67018333-67018334	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570496598	chr1:67018335-67018336	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367744183	chr1:67018376-67018377	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553429252	chr1:67018401-67018402	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57305523	chr1:67018428-67018429	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374706937	chr1:67018526-67018527	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542369610	chr1:67018541-67018542	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17434186	chr1:67018555-67018556	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:95)

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
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000400-67022000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:67001200-67022000	Weak transcription	Right Ventricle	heart
4	chr1:67007000-67021800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:67007200-67018000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:67008400-67018000	Weak transcription	Lung	lung
7	chr1:67009000-67019600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:67009600-67018200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:67009600-67019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:67009800-67028200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:67010000-67018600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:67010000-67018600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
14	chr1:67010800-67018600	Weak transcription	Osteobl	bone
15	chr1:67011000-67028000	Weak transcription	HUVEC	blood vessel
16	chr1:67011200-67021800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:67011200-67022000	Weak transcription	Pancreas	Pancrea
18	chr1:67011400-67017800	Weak transcription	Left Ventricle	heart
19	chr1:67011600-67017600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:67011800-67029800	Weak transcription	Fetal Brain Male	brain
21	chr1:67012200-67017800	Weak transcription	NHDF-Ad	bronchial
22	chr1:67012400-67018000	Weak transcription	Fetal Lung	lung
23	chr1:67012400-67021400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:67013000-67018000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:67013400-67018600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:67013600-67018000	Weak transcription	NHLF	lung
27	chr1:67013800-67017600	Weak transcription	Aorta	Aorta
28	chr1:67013800-67017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:67013800-67017800	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:67013800-67018000	Weak transcription	Brain Substantia Nigra	brain
31	chr1:67013800-67021200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:67014600-67018200	Weak transcription	Brain Angular Gyrus	brain
33	chr1:67015200-67017400	Weak transcription	Fetal Heart	heart
34	chr1:67015600-67017600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:67015800-67017800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:67015800-67017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:67015800-67021600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:67016400-67018200	Weak transcription	NH-A	brain
39	chr1:67017400-67023800	Enhancers	Fetal Heart	heart
40	chr1:67017600-67018000	Enhancers	Aorta	Aorta
41	chr1:67017600-67019000	Enhancers	Adipose Nuclei	Adipose
42	chr1:67017600-67019800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:67017600-67020200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:67017800-67018000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:67017800-67018400	Enhancers	Brain Hippocampus Middle	brain
46	chr1:67017800-67018600	Enhancers	NHDF-Ad	bronchial
47	chr1:67017800-67018800	Enhancers	Left Ventricle	heart
48	chr1:67017800-67019000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:67017800-67019000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:67017800-67019000	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links