Variant report

Variant	nsv1011075
Chromosome Location	chr1:61935306-61968843
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61961790..61962305-chr1:62107717..62108447,2	MCF-7	breast:
2	chr1:61963324..61965163-chr1:62208941..62210966,2	MCF-7	breast:
3	chr1:61681230..61681758-chr1:61961831..61962532,2	MCF-7	breast:
4	chr1:61869793..61870564-chr1:61962065..61962647,2	MCF-7	breast:
5	chr1:61681255..61681914-chr1:61963857..61964457,3	MCF-7	breast:
6	chr1:61949657..61951267-chr1:62070841..62073527,2	K562	blood:
7	chr1:61931953..61934023-chr1:61946122..61947658,2	K562	blood:
8	chr1:61957656..61960051-chr1:61961618..61963243,2	MCF-7	breast:
9	chr1:61957656..61960051-chr1:61961618..61963243,2	MCF-7	breast:

No data

Extended variants
information (count: 1302 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1302 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12040431	chr1:61935306-61935307	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547924615	chr1:61935342-61935343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114969100	chr1:61935403-61935404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561844134	chr1:61935488-61935489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529117076	chr1:61935496-61935497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577079004	chr1:61935499-61935500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35962776	chr1:61935504-61935505	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551871348	chr1:61935517-61935518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570689139	chr1:61935541-61935542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566573138	chr1:61935556-61935557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140004396	chr1:61935604-61935605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142762041	chr1:61935619-61935620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115580048	chr1:61935676-61935677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568706968	chr1:61935696-61935697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61711613	chr1:61935705-61935706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12064663	chr1:61935731-61935732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112253785	chr1:61935769-61935770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554853748	chr1:61935782-61935783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557031121	chr1:61935792-61935793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7365686	chr1:61935795-61935796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181787377	chr1:61935796-61935797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558313604	chr1:61935800-61935801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537365548	chr1:61935816-61935817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577099721	chr1:61935858-61935859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540911521	chr1:61935873-61935874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150166233	chr1:61935901-61935902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529900840	chr1:61935911-61935912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542117394	chr1:61935919-61935920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563104672	chr1:61935940-61935941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530450950	chr1:61935951-61935952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551839477	chr1:61936009-61936010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146768715	chr1:61936028-61936029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528659028	chr1:61936056-61936057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370989557	chr1:61936082-61936083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546828776	chr1:61936122-61936123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186322982	chr1:61936130-61936131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535737941	chr1:61936154-61936155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201965135	chr1:61936175-61936176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557654343	chr1:61936182-61936183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569254608	chr1:61936189-61936190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539878927	chr1:61936262-61936263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558276609	chr1:61936264-61936265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573425575	chr1:61936371-61936372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556508800	chr1:61936438-61936439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534304113	chr1:61936444-61936445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552852058	chr1:61936464-61936465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114424181	chr1:61936557-61936558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4501865	chr1:61936573-61936574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs563276002	chr1:61936587-61936588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574882866	chr1:61936591-61936592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	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
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61919000-61938600	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:61919600-61936000	Weak transcription	Right Atrium	heart
3	chr1:61921800-61938600	Weak transcription	NHEK	skin
4	chr1:61929400-61938400	Weak transcription	Aorta	Aorta
5	chr1:61929600-61938800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:61930600-61937200	Weak transcription	Fetal Heart	heart
7	chr1:61934600-61935600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:61935000-61935400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:61935000-61935600	Enhancers	Adipose Nuclei	Adipose
10	chr1:61935200-61935400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:61935200-61935400	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:61935400-61936600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:61938000-61939200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:61938400-61939400	Enhancers	Aorta	Aorta
15	chr1:61938600-61939000	Enhancers	NHEK	skin
16	chr1:61938800-61939000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:61939800-61940200	Enhancers	Fetal Brain Male	brain
18	chr1:61940200-61941200	Weak transcription	Fetal Brain Male	brain
19	chr1:61940600-61940800	Enhancers	Esophagus	oesophagus
20	chr1:61940800-61961400	Weak transcription	Esophagus	oesophagus
21	chr1:61941200-61941400	Enhancers	Fetal Brain Male	brain
22	chr1:61942400-61943400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:61942800-61943000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr1:61942800-61943000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:61942800-61943000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:61943000-61943200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr1:61943200-61943600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr1:61943400-61946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:61946200-61946400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:61946200-61946400	Enhancers	Fetal Muscle Leg	muscle
31	chr1:61946200-61946800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:61946200-61947000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:61946200-61947200	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:61946200-61948200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:61946200-61948400	Enhancers	HMEC	breast
36	chr1:61946400-61946600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:61946400-61946800	Enhancers	Hela-S3	cervix
38	chr1:61946400-61947000	Enhancers	Fetal Kidney	kidney
39	chr1:61946400-61947200	Enhancers	NHEK	skin
40	chr1:61946400-61947800	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:61946400-61948000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:61946400-61948400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr1:61946400-61948400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:61946600-61946800	Enhancers	HSMMtube	muscle
45	chr1:61946600-61947200	Enhancers	Aorta	Aorta
46	chr1:61946600-61947600	Enhancers	A549	lung
47	chr1:61946600-61948000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:61946600-61948200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:61946600-61948600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:61946800-61947000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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