Variant report

Variant	nsv871141
Chromosome Location	chr1:71440217-71453552
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
2	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
3	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
4	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
5	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
6	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
7	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
8	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:

No data

Extended variants
information (count: 557 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2072947	chr1:71440217-71440218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191589300	chr1:71440257-71440258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149165495	chr1:71440268-71440269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371706903	chr1:71440288-71440289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs41287928	chr1:71440301-71440302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570387312	chr1:71440328-71440329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184414087	chr1:71440331-71440332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535486809	chr1:71440392-71440393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143651853	chr1:71440426-71440427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575173519	chr1:71440428-71440429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534729200	chr1:71440599-71440600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377566925	chr1:71440602-71440603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539987727	chr1:71440648-71440649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577479962	chr1:71440652-71440653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146859330	chr1:71440703-71440704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553081239	chr1:71440715-71440716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559865980	chr1:71440726-71440727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573760617	chr1:71440747-71440748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370159390	chr1:71440758-71440759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572711876	chr1:71440780-71440781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536830605	chr1:71440899-71440900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs56148083	chr1:71440944-71440945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542296335	chr1:71440974-71440975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374134093	chr1:71440993-71440994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562091705	chr1:71441035-71441036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113669848	chr1:71441041-71441042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550781836	chr1:71441048-71441049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397863210	chr1:71441055-71441056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113940703	chr1:71441057-71441058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530915962	chr1:71441061-71441062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17090710	chr1:71441093-71441094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564489124	chr1:71441117-71441118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533641687	chr1:71441130-71441131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547321426	chr1:71441188-71441189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567030265	chr1:71441279-71441280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs57657267	chr1:71441293-71441294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116293310	chr1:71441352-71441353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560182390	chr1:71441382-71441383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576663641	chr1:71441390-71441391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568892401	chr1:71441426-71441427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544051898	chr1:71441438-71441439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140662109	chr1:71441448-71441449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145911458	chr1:71441454-71441455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371386924	chr1:71441540-71441541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553688023	chr1:71441548-71441549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565149471	chr1:71441591-71441592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151112662	chr1:71441595-71441596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189705622	chr1:71441651-71441652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192957007	chr1:71441671-71441672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184583452	chr1:71441672-71441673	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
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
Schizophrenia	23813976	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71430200-71444200	Weak transcription	Adipose Nuclei	Adipose
2	chr1:71438600-71440600	Enhancers	Fetal Brain Male	brain
3	chr1:71440200-71440400	Enhancers	Fetal Brain Female	brain
4	chr1:71440600-71441600	Weak transcription	Fetal Brain Male	brain
5	chr1:71440800-71441800	Weak transcription	Fetal Brain Female	brain
6	chr1:71441600-71444800	Enhancers	Fetal Brain Male	brain
7	chr1:71441800-71442400	Enhancers	Fetal Brain Female	brain
8	chr1:71443000-71443200	Enhancers	Gastric	stomach
9	chr1:71443000-71443600	Enhancers	Pancreas	Pancrea
10	chr1:71443200-71456800	Weak transcription	Gastric	stomach
11	chr1:71443600-71446000	Weak transcription	Pancreas	Pancrea
12	chr1:71444000-71444600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:71444000-71445600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:71444200-71444600	Enhancers	Fetal Heart	heart
15	chr1:71444200-71446200	Enhancers	Primary hematopoietic stem cells	blood
16	chr1:71444200-71446600	Enhancers	Adipose Nuclei	Adipose
17	chr1:71444200-71447000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:71444400-71444600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:71444400-71444800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:71444400-71445400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:71444600-71445200	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr1:71444600-71446000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:71444600-71446600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr1:71444800-71445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:71445000-71446200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:71445200-71445400	Enhancers	Colon Smooth Muscle	Colon
27	chr1:71445200-71446200	Enhancers	K562	blood
28	chr1:71445200-71464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:71445600-71446200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:71446000-71446200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:71446000-71446200	Enhancers	Colon Smooth Muscle	Colon
32	chr1:71446000-71446600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:71446000-71446600	Enhancers	Pancreas	Pancrea
34	chr1:71446200-71450600	Weak transcription	K562	blood
35	chr1:71446600-71447200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:71446600-71449200	Weak transcription	Adipose Nuclei	Adipose
37	chr1:71446600-71456200	Weak transcription	Pancreas	Pancrea
38	chr1:71447400-71448200	Enhancers	Aorta	Aorta
39	chr1:71448200-71456800	Weak transcription	Aorta	Aorta
40	chr1:71449200-71449800	Enhancers	Adipose Nuclei	Adipose
41	chr1:71449800-71451400	Weak transcription	Adipose Nuclei	Adipose
42	chr1:71450600-71451600	Enhancers	NHDF-Ad	bronchial
43	chr1:71450600-71452200	Enhancers	K562	blood
44	chr1:71451400-71451800	Enhancers	Adipose Nuclei	Adipose

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