Variant report

Variant	nsv997503
Chromosome Location	chr1:71418126-71465508
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
2	chr1:71411854..71414751-chr1:71416719..71419463,2	K562	blood:
3	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
4	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
5	chr1:70975940..70976451-chr1:71428828..71429462,2	MCF-7	breast:
6	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
7	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
8	chr1:71150765..71151639-chr1:71429287..71429792,2	MCF-7	breast:
9	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
10	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
11	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
12	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
13	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-14	chr1:71461328-71461385	l_71_chr1:71319635-71475982_testes
2	lnc-CTH-12	chr1:71430529-71431707	NONHSAT003873
3	lnc-CTH-12	chr1:71426588-71426941	NONHSAT003873

No data

Variant related genes	Relation type
ENSG00000235782	chromatin interactions

Extended variants
information (count: 1860 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1860 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148566520	chr1:71418141-71418142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546836593	chr1:71418146-71418147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543667097	chr1:71418148-71418149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs190841828	chr1:71418193-71418194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74089178	chr1:71418202-71418203	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577064927	chr1:71418263-71418264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546027985	chr1:71418265-71418266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565367313	chr1:71418334-71418335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527831584	chr1:71418338-71418339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34531883	chr1:71418345-71418346	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs5700	chr1:71418367-71418368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182299038	chr1:71418400-71418401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550404726	chr1:71418403-71418404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186738024	chr1:71418438-71418439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs5699	chr1:71418452-71418453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535417431	chr1:71418476-71418477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79910424	chr1:71418525-71418526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111594652	chr1:71418532-71418533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs5698	chr1:71418555-71418556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs550727417	chr1:71418556-71418557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565415760	chr1:71418572-71418573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs202001566	chr1:71418603-71418604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189587400	chr1:71418634-71418635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568020055	chr1:71418640-71418641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536644930	chr1:71418641-71418642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369540225	chr1:71418660-71418661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568967213	chr1:71418662-71418663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375181734	chr1:71418663-71418664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202177071	chr1:71418672-71418673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141688168	chr1:71418711-71418712	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143165473	chr1:71418718-71418719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141042904	chr1:71418742-71418743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183310532	chr1:71418747-71418748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375226553	chr1:71418788-71418789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572552573	chr1:71418800-71418801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535409346	chr1:71418801-71418802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541488948	chr1:71418863-71418864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144877701	chr1:71418914-71418915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559206777	chr1:71418926-71418927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs41287924	chr1:71418965-71418966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112255885	chr1:71419007-71419008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187800263	chr1:71419043-71419044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193201334	chr1:71419114-71419115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552337362	chr1:71419121-71419122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559486393	chr1:71419148-71419149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111740046	chr1:71419163-71419164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553223556	chr1:71419181-71419182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114815813	chr1:71419190-71419191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541812182	chr1:71419282-71419283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568071014	chr1:71419339-71419340	Weak transcription	Chromatin interactive region	1 gene(s)	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71415800-71422200	Weak transcription	Adipose Nuclei	Adipose
2	chr1:71416000-71419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71418400-71419200	Enhancers	Aorta	Aorta
4	chr1:71419600-71421000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71421000-71421400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71421400-71422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:71422200-71422600	Enhancers	Adipose Nuclei	Adipose
8	chr1:71422600-71429600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:71422800-71423600	Enhancers	Fetal Heart	heart
10	chr1:71422800-71425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:71423400-71423800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:71425800-71426000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:71426000-71436800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:71429600-71430200	Enhancers	Adipose Nuclei	Adipose
15	chr1:71430200-71444200	Weak transcription	Adipose Nuclei	Adipose
16	chr1:71433600-71433800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:71436800-71437000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:71438600-71440600	Enhancers	Fetal Brain Male	brain
19	chr1:71440200-71440400	Enhancers	Fetal Brain Female	brain
20	chr1:71440600-71441600	Weak transcription	Fetal Brain Male	brain
21	chr1:71440800-71441800	Weak transcription	Fetal Brain Female	brain
22	chr1:71441600-71444800	Enhancers	Fetal Brain Male	brain
23	chr1:71441800-71442400	Enhancers	Fetal Brain Female	brain
24	chr1:71443000-71443200	Enhancers	Gastric	stomach
25	chr1:71443000-71443600	Enhancers	Pancreas	Pancrea
26	chr1:71443200-71456800	Weak transcription	Gastric	stomach
27	chr1:71443600-71446000	Weak transcription	Pancreas	Pancrea
28	chr1:71444000-71444600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr1:71444000-71445600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:71444200-71444600	Enhancers	Fetal Heart	heart
31	chr1:71444200-71446200	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:71444200-71446600	Enhancers	Adipose Nuclei	Adipose
33	chr1:71444200-71447000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:71444400-71444600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:71444400-71444800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:71444400-71445400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr1:71444600-71445200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr1:71444600-71446000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:71444600-71446600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:71444800-71445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:71445000-71446200	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:71445200-71445400	Enhancers	Colon Smooth Muscle	Colon
43	chr1:71445200-71446200	Enhancers	K562	blood
44	chr1:71445200-71464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:71445600-71446200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:71446000-71446200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:71446000-71446200	Enhancers	Colon Smooth Muscle	Colon
48	chr1:71446000-71446600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr1:71446000-71446600	Enhancers	Pancreas	Pancrea
50	chr1:71446200-71450600	Weak transcription	K562	blood

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