Variant report

Variant	nsv1910
Chromosome Location	chr1:95100383-95111872
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:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95104382..95108045-chr1:95108728..95112831,4	K562	blood:
2	chr1:95098692..95101011-chr1:95110470..95114437,3	K562	blood:
3	chr1:95100479..95101193-chr1:95267507..95268149,2	MCF-7	breast:
4	chr1:95098692..95101011-chr1:95110470..95114437,3	K562	blood:
5	chr1:95104382..95108045-chr1:95108728..95112831,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNN3-3	chr1:95104017-95104114	ENSG00000224081.2
2	lnc-F3-2	chr1:95101565-95101980	NONHSAT004602
3	lnc-F3-2	chr1:95103261-95103386	NONHSAT004602
4	lnc-F3-2	chr1:95103992-95104114	NONHSAT004602

No data

Extended variants
information (count: 466 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543343660	chr1:95100383-95100384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114589984	chr1:95100406-95100407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373065394	chr1:95100501-95100502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567415753	chr1:95100527-95100528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138046548	chr1:95100581-95100582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367825939	chr1:95100647-95100648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149451255	chr1:95100653-95100654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563545308	chr1:95100657-95100658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558972301	chr1:95100673-95100674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577249839	chr1:95100674-95100675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566222273	chr1:95100682-95100683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539871684	chr1:95100685-95100686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190205843	chr1:95100714-95100715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554871810	chr1:95100779-95100780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561836686	chr1:95100811-95100812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574927813	chr1:95100844-95100845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143905621	chr1:95100861-95100862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1361868	chr1:95100877-95100878	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181906573	chr1:95100892-95100893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370358047	chr1:95100912-95100913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564528990	chr1:95101089-95101090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74101817	chr1:95101130-95101131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373336390	chr1:95101133-95101134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541076150	chr1:95101135-95101136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560950101	chr1:95101141-95101142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148687826	chr1:95101144-95101145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531222555	chr1:95101183-95101184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55736571	chr1:95101185-95101186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564451127	chr1:95101301-95101302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6687228	chr1:95101325-95101326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532442445	chr1:95101345-95101346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552641748	chr1:95101388-95101389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142224916	chr1:95101437-95101438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533331488	chr1:95101438-95101439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527415455	chr1:95101440-95101441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527703985	chr1:95101446-95101447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10874870	chr1:95101465-95101466	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs75133055	chr1:95101474-95101475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201693901	chr1:95101546-95101547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537282117	chr1:95101616-95101617	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs557111378	chr1:95101622-95101623	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs577159159	chr1:95101672-95101673	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs116717565	chr1:95101685-95101686	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs72972419	chr1:95101693-95101694	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs371116520	chr1:95101746-95101747	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs374360024	chr1:95101771-95101772	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs540786556	chr1:95101796-95101797	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs561074105	chr1:95101832-95101833	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574429479	chr1:95101872-95101873	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs543690870	chr1:95101891-95101892	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:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95089800-95100400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:95090000-95102800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:95090800-95100600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:95091600-95100400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:95095400-95100600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:95095400-95100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:95095400-95100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:95095800-95101400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:95095800-95102200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:95095800-95108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:95096000-95100400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:95096600-95100600	Weak transcription	Placenta	Placenta
13	chr1:95098200-95100600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:95098600-95101000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr1:95098800-95100400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:95098800-95100400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:95099000-95101400	Enhancers	Pancreas	Pancrea
18	chr1:95099000-95102000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:95099400-95102000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:95099400-95102800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:95099400-95102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:95099600-95100600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:95099600-95100600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:95099600-95102200	Weak transcription	Ovary	ovary
25	chr1:95099600-95102800	Weak transcription	NHDF-Ad	bronchial
26	chr1:95099800-95111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:95100000-95100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:95100000-95101800	Enhancers	K562	blood
29	chr1:95100000-95103200	Enhancers	NHEK	skin
30	chr1:95100200-95100600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:95100200-95100800	Enhancers	NHLF	lung
32	chr1:95100200-95103000	Enhancers	HMEC	breast
33	chr1:95100400-95100800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:95100400-95101000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:95100400-95101600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:95100400-95101800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:95100400-95102000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:95100400-95102800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:95100400-95102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:95100400-95103000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:95100400-95103200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:95100400-95103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:95100400-95103400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:95100600-95100800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:95100600-95100800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:95100600-95100800	Enhancers	Stomach Mucosa	stomach
47	chr1:95100600-95100800	Enhancers	NH-A	brain
48	chr1:95100600-95101000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:95100600-95101400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:95100600-95101400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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