Variant report

Variant	nsv1008536
Chromosome Location	chr1:105135332-105748059
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:105323182..105323702-chr1:106336107..106336743,2	K562	blood:
2	chr1:105552243..105552969-chr1:145064848..145065468,2	MCF-7	breast:
3	chr1:105464233..105466305-chr1:105536432..105538277,2	MCF-7	breast:
4	chr1:105712235..105714270-chr1:105715670..105717986,2	K562	blood:
5	chr1:105396022..105396528-chr2:15494186..15495100,2	MCF-7	breast:
6	chr1:105685482..105686002-chr8:43092410..43092930,2	MCF-7	breast:
7	chr1:105465225..105466908-chr1:105470582..105473577,2	K562	blood:
8	chr1:105464233..105466305-chr1:105536432..105538277,2	MCF-7	breast:
9	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:
10	chr1:105322783..105323719-chr1:106810790..106811327,2	MCF-7	breast:
11	chr1:105225780..105228608-chr1:105234068..105236251,2	K562	blood:
12	chr1:105322701..105323694-chr1:106151023..106151974,2	MCF-7	breast:
13	chr1:105322921..105323781-chr1:106335621..106336447,4	MCF-7	breast:
14	chr1:105638586..105640817-chr1:105643463..105645199,2	K562	blood:
15	chr1:105465225..105466908-chr1:105470582..105473577,2	K562	blood:
16	chr1:105712235..105714270-chr1:105715670..105717986,2	K562	blood:
17	chr1:105190498..105191127-chr1:106335842..106336840,2	MCF-7	breast:
18	chr1:105638586..105640817-chr1:105643463..105645199,2	K562	blood:
19	chr1:105712770..105714603-chr1:105716484..105717986,2	K562	blood:
20	chr1:105712770..105714603-chr1:105716484..105717986,2	K562	blood:

No data

Extended variants
information (count: 4992 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:4992 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536502152	chr1:105135358-105135359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554616877	chr1:105135449-105135450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573959827	chr1:105135453-105135454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377660004	chr1:105135497-105135498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577909458	chr1:105135513-105135514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182493027	chr1:105135544-105135545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184996017	chr1:105135597-105135598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375284887	chr1:105135629-105135630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12137894	chr1:105135652-105135653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545107449	chr1:105135659-105135660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188928397	chr1:105135662-105135663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181622042	chr1:105135670-105135671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140706815	chr1:105135677-105135678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142376818	chr1:105135701-105135702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72687501	chr1:105135747-105135748	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185507871	chr1:105135752-105135753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72687502	chr1:105135758-105135759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538699552	chr1:105135840-105135841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191601056	chr1:105135843-105135844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569033565	chr1:105135864-105135865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151275913	chr1:105135889-105135890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541105544	chr1:105135896-105135897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76592221	chr1:105135917-105135918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180833997	chr1:105135924-105135925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140478587	chr1:105135997-105135998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552906659	chr1:105136034-105136035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186234090	chr1:105136038-105136039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376873952	chr1:105136107-105136108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545095302	chr1:105136181-105136182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369789719	chr1:105136186-105136187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149934547	chr1:105136241-105136242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576776967	chr1:105136359-105136360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77126177	chr1:105136366-105136367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398089492	chr1:105136370-105136371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531237078	chr1:105136414-105136415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371519326	chr1:105136426-105136427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559229978	chr1:105136442-105136443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115462058	chr1:105136443-105136444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12083708	chr1:105136470-105136471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146477697	chr1:105136531-105136532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528761519	chr1:105136535-105136536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547329272	chr1:105136557-105136558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74104945	chr1:105136559-105136560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532194199	chr1:105136585-105136586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141141055	chr1:105136623-105136624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568884149	chr1:105136658-105136659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529815212	chr1:105136674-105136675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114338320	chr1:105136694-105136695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78164758	chr1:105136695-105136696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533789429	chr1:105136716-105136717	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:105134800-105137200	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:105135200-105135400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:105135200-105135600	Enhancers	GM12878-XiMat	blood
4	chr1:105135200-105137000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:105135600-105136600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:105136400-105137000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:105136600-105137000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:105137000-105144200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:105141400-105142000	Enhancers	Fetal Lung	lung
10	chr1:105144200-105144400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:105144400-105145200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:105145200-105145400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:105145200-105145600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:105159400-105159800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:105159600-105161200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:105162800-105163600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:105163200-105164600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:105163600-105164200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:105164200-105165000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:105165000-105165400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:105165400-105165600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:105174600-105175400	Enhancers	Fetal Kidney	kidney
23	chr1:105190800-105191200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:105190800-105191200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:105190800-105191600	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:105191000-105191600	Enhancers	Colon Smooth Muscle	Colon
27	chr1:105191600-105192000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:105192000-105192800	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:105193600-105194600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:105194400-105194600	Enhancers	Brain Germinal Matrix	brain
31	chr1:105199000-105201400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:105206600-105207600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:105207000-105207400	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:105207000-105207400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:105207000-105207600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr1:105207000-105207600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:105213800-105214200	Enhancers	Fetal Heart	heart
38	chr1:105214200-105214400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:105214200-105214400	Enhancers	Fetal Lung	lung
40	chr1:105214200-105214600	Flanking Active TSS	Fetal Heart	heart
41	chr1:105214400-105214800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:105214400-105214800	Flanking Active TSS	Fetal Lung	lung
43	chr1:105214400-105214800	Active TSS	Hela-S3	cervix
44	chr1:105214400-105215200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:105214600-105215000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:105214600-105215000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:105214600-105215000	Enhancers	Fetal Heart	heart
48	chr1:105214600-105215000	Active TSS	Fetal Kidney	kidney
49	chr1:105214600-105215000	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr1:105214600-105215000	Active TSS	Skeletal Muscle Female	skeletal muscle

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