Variant report

Variant	nsv947122
Chromosome Location	chr1:95081067-95089572
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:11)
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	chr1:95079718..95082412-chr1:95085713..95087293,2	MCF-7	breast:
2	chr1:95080479..95082832-chr1:95086788..95088378,2	K562	blood:
3	chr1:95015461..95017197-chr1:95086412..95088142,2	K562	blood:
4	chr1:95005520..95008552-chr1:95083214..95086682,3	MCF-7	breast:
5	chr1:95080479..95082832-chr1:95086788..95088378,2	K562	blood:
6	chr1:95079718..95082412-chr1:95085713..95087293,2	MCF-7	breast:
7	chr1:95075515..95077960-chr1:95084097..95086216,2	K562	blood:
8	chr1:95084398..95087368-chr1:95088701..95090405,2	MCF-7	breast:
9	chr1:95083696..95086099-chr1:95111956..95113779,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F3-2	chr1:95082006-95082627	NONHSAT004599
2	lnc-F3-2	chr1:95081953-95082627	XLOC_000922
3	lnc-F3-2	chr1:95082302-95082627	XLOC_000922
4	lnc-F3-2	chr1:95088275-95088440	XLOC_000922
5	lnc-F3-2	chr1:95088565-95088595	NONHSAT004597
6	lnc-F3-2	chr1:95081924-95082321	NONHSAT004597
7	lnc-F3-2	chr1:95088606-95089355	NONHSAT004597
8	lnc-F3-2	chr1:95086187-95086543	XLOC_000922
9	lnc-F3-2	chr1:95088275-95089740	XLOC_000922
10	lnc-F3-2	chr1:95088275-95088456	NONHSAT004599
11	lnc-F3-2	chr1:95086707-95087512	XLOC_000922

No data

Variant related genes	Relation type
ENSG00000117525	chromatin interactions
ENSG00000235565	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150305832	chr1:95081102-95081103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190418411	chr1:95081107-95081108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4424520	chr1:95081123-95081124	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs67791628	chr1:95081142-95081143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201655761	chr1:95081145-95081146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147679302	chr1:95081168-95081169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398049471	chr1:95081169-95081170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551397699	chr1:95081178-95081179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571288026	chr1:95081191-95081192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181448968	chr1:95081194-95081195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185937698	chr1:95081225-95081226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138075185	chr1:95081244-95081245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576091494	chr1:95081266-95081267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4351650	chr1:95081280-95081281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550517025	chr1:95081285-95081286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570329919	chr1:95081308-95081309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35679328	chr1:95081335-95081336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539322985	chr1:95081344-95081345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547181104	chr1:95081355-95081356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375408940	chr1:95081363-95081364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577561726	chr1:95081364-95081365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533688083	chr1:95081376-95081377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553786619	chr1:95081412-95081413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143127293	chr1:95081425-95081426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542381585	chr1:95081437-95081438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4474258	chr1:95081445-95081446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
27	rs35909914	chr1:95081446-95081447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs189958425	chr1:95081452-95081453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373550934	chr1:95081470-95081471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565176098	chr1:95081510-95081511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527644448	chr1:95081550-95081551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560254861	chr1:95081555-95081556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547578752	chr1:95081566-95081567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17411335	chr1:95081587-95081588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530333528	chr1:95081643-95081644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369969717	chr1:95081676-95081677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550430258	chr1:95081711-95081712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182690206	chr1:95081788-95081789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539385521	chr1:95081825-95081826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138837887	chr1:95081871-95081872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571162443	chr1:95081884-95081885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187558832	chr1:95081935-95081936	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs11554006	chr1:95081953-95081954	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs35260146	chr1:95081993-95081994	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs565522542	chr1:95082022-95082023	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs12049022	chr1:95082127-95082128	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191154262	chr1:95082149-95082150	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs573717099	chr1:95082169-95082170	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs535922644	chr1:95082180-95082181	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs183780045	chr1:95082190-95082191	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95065400-95081400	Enhancers	Fetal Intestine Small	intestine
2	chr1:95065600-95087200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:95075000-95082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:95075000-95082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:95075200-95088400	Weak transcription	Fetal Lung	lung
6	chr1:95075400-95081600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:95075400-95082000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:95075400-95082000	Weak transcription	NH-A	brain
9	chr1:95075400-95082800	Weak transcription	Placenta	Placenta
10	chr1:95075600-95086000	Weak transcription	Fetal Stomach	stomach
11	chr1:95076800-95081400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:95077000-95082400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:95077400-95081200	Enhancers	Small Intestine	intestine
14	chr1:95077800-95082000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:95078000-95081600	Weak transcription	A549	lung
16	chr1:95078200-95081800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:95078400-95081600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:95078400-95082000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:95078400-95082000	Weak transcription	Fetal Heart	heart
20	chr1:95078400-95082000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:95078400-95082000	Weak transcription	NHEK	skin
22	chr1:95078400-95083000	Weak transcription	HepG2	liver
23	chr1:95078600-95082000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:95078600-95082000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:95078600-95082000	Weak transcription	HMEC	breast
26	chr1:95078600-95082200	Weak transcription	Hela-S3	cervix
27	chr1:95078600-95082400	Weak transcription	NHLF	lung
28	chr1:95078600-95082800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:95078600-95083000	Weak transcription	Colonic Mucosa	Colon
30	chr1:95078600-95085200	Weak transcription	Pancreas	Pancrea
31	chr1:95078600-95086000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:95079800-95081200	Enhancers	Dnd41	blood
33	chr1:95079800-95081400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:95080200-95082000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:95080800-95082000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:95080800-95082000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:95080800-95082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:95080800-95082800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:95080800-95085200	Weak transcription	Gastric	stomach
40	chr1:95080800-95085200	Weak transcription	Lung	lung
41	chr1:95080800-95086800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:95081000-95081800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:95081000-95082000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:95081000-95082200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:95081000-95082800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:95081000-95085400	Weak transcription	Stomach Mucosa	stomach
47	chr1:95081200-95082400	Weak transcription	Small Intestine	intestine
48	chr1:95081400-95081800	Weak transcription	Fetal Intestine Small	intestine
49	chr1:95081400-95081800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:95081600-95081800	Enhancers	A549	lung

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