Variant report

Variant	nsv1002842
Chromosome Location	chr1:71415135-71458961
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:4)
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	chr1:71150765..71151639-chr1:71429287..71429792,2	MCF-7	breast:
2	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
3	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
4	chr1:70975940..70976451-chr1:71428828..71429462,2	MCF-7	breast:
5	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
6	chr1:71440403..71443013-chr1:71443324..71446288,2	K562	blood:
7	chr1:71427617..71429337-chr1:71437684..71440303,2	K562	blood:
8	chr1:71443738..71447073-chr1:71448870..71451609,5	K562	blood:
9	chr1:71411854..71414751-chr1:71416719..71419463,2	K562	blood:
10	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
11	chr1:71423003..71424991-chr1:71446277..71448535,2	K562	blood:
12	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:
13	chr1:71442791..71448002-chr1:71448870..71452211,5	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTH-3	chr1:71416418-71416476	ENSG00000235782.1
2	lnc-CTH-12	chr1:71426588-71426941	NONHSAT003873
3	lnc-CTH-12	chr1:71430529-71431707	NONHSAT003873
4	lnc-CTH-3	chr1:71416584-71417176	ENSG00000235782.1

No data

Variant related genes	Relation type
ENSG00000235782	chromatin interactions

Extended variants
information (count: 1746 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1746 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs651265	chr1:71415135-71415136	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531236950	chr1:71415266-71415267	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558511798	chr1:71415281-71415282	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139353185	chr1:71415332-71415333	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150073120	chr1:71415345-71415346	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560280300	chr1:71415381-71415382	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370131862	chr1:71415383-71415384	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147739650	chr1:71415428-71415429	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113446720	chr1:71415434-71415435	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112392020	chr1:71415456-71415457	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531351040	chr1:71415482-71415483	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368614828	chr1:71415497-71415498	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185700335	chr1:71415559-71415560	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371447329	chr1:71415578-71415579	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7541936	chr1:71415597-71415598	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs547226868	chr1:71415664-71415665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202208962	chr1:71415673-71415674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397827496	chr1:71415676-71415677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566607879	chr1:71415679-71415680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535611457	chr1:71415700-71415701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12410289	chr1:71415708-71415709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190373121	chr1:71415712-71415713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538243706	chr1:71415716-71415717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35438617	chr1:71415737-71415738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558451652	chr1:71415763-71415764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146934883	chr1:71415772-71415773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540826619	chr1:71415801-71415802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554434510	chr1:71415865-71415866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573663907	chr1:71415867-71415868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549040978	chr1:71415891-71415892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542322994	chr1:71415920-71415921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562622818	chr1:71415928-71415929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371943612	chr1:71415929-71415930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573170796	chr1:71415959-71415960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74089174	chr1:71415962-71415963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183701088	chr1:71416000-71416001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188170324	chr1:71416015-71416016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576735467	chr1:71416026-71416027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111778016	chr1:71416046-71416047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75988777	chr1:71416062-71416063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529922476	chr1:71416123-71416124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79019611	chr1:71416143-71416144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569344243	chr1:71416185-71416186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537842736	chr1:71416211-71416212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551847043	chr1:71416320-71416321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143058462	chr1:71416332-71416333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534530596	chr1:71416335-71416336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201617095	chr1:71416390-71416391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554520211	chr1:71416444-71416445	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs559245878	chr1:71416445-71416446	Weak transcription	lncRNA	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71413200-71415200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:71413800-71415600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:71415000-71415200	Flanking Active TSS	NHDF-Ad	bronchial
4	chr1:71415000-71415600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:71415000-71415600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr1:71415000-71415800	Enhancers	Adipose Nuclei	Adipose
7	chr1:71415200-71415600	Enhancers	NHDF-Ad	bronchial
8	chr1:71415600-71416000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:71415600-71416200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:71415800-71422200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:71416000-71419600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:71418400-71419200	Enhancers	Aorta	Aorta
13	chr1:71419600-71421000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:71421000-71421400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:71421400-71422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:71422200-71422600	Enhancers	Adipose Nuclei	Adipose
17	chr1:71422600-71429600	Weak transcription	Adipose Nuclei	Adipose
18	chr1:71422800-71423600	Enhancers	Fetal Heart	heart
19	chr1:71422800-71425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:71423400-71423800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:71425800-71426000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:71426000-71436800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:71429600-71430200	Enhancers	Adipose Nuclei	Adipose
24	chr1:71430200-71444200	Weak transcription	Adipose Nuclei	Adipose
25	chr1:71433600-71433800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr1:71436800-71437000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:71438600-71440600	Enhancers	Fetal Brain Male	brain
28	chr1:71440200-71440400	Enhancers	Fetal Brain Female	brain
29	chr1:71440600-71441600	Weak transcription	Fetal Brain Male	brain
30	chr1:71440800-71441800	Weak transcription	Fetal Brain Female	brain
31	chr1:71441600-71444800	Enhancers	Fetal Brain Male	brain
32	chr1:71441800-71442400	Enhancers	Fetal Brain Female	brain
33	chr1:71443000-71443200	Enhancers	Gastric	stomach
34	chr1:71443000-71443600	Enhancers	Pancreas	Pancrea
35	chr1:71443200-71456800	Weak transcription	Gastric	stomach
36	chr1:71443600-71446000	Weak transcription	Pancreas	Pancrea
37	chr1:71444000-71444600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:71444000-71445600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:71444200-71444600	Enhancers	Fetal Heart	heart
40	chr1:71444200-71446200	Enhancers	Primary hematopoietic stem cells	blood
41	chr1:71444200-71446600	Enhancers	Adipose Nuclei	Adipose
42	chr1:71444200-71447000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:71444400-71444600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:71444400-71444800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:71444400-71445400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:71444600-71445200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr1:71444600-71446000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:71444600-71446600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr1:71444800-71445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:71445000-71446200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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