Variant report

Variant	nsv528450
Chromosome Location	chr1:102579307-102742475
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:5)
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	chr1:54418703..54421611-chr1:102613977..102616372,3	MCF-7	breast:
2	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
3	chr1:102285335..102286320-chr1:102656866..102657699,4	MCF-7	breast:
4	chr1:102569587..102571901-chr1:102578895..102580582,2	K562	blood:
5	chr1:102580503..102583097-chr1:102602225..102604313,2	K562	blood:
6	chr1:102459133..102459923-chr1:102657241..102657780,2	MCF-7	breast:
7	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
8	chr1:102580503..102583097-chr1:102602225..102604313,2	K562	blood:
9	chr1:102685538..102686359-chr1:201441216..201441918,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-3	chr1:102627638-102627774	NONHSAT004870
2	lnc-OLFM3-3	chr1:102626679-102626773	NONHSAT004870
3	lnc-OLFM3-1	chr1:102665295-102665553	XLOC_000943
4	lnc-OLFM3-3	chr1:102625506-102625565	NONHSAT004870
5	lnc-OLFM3-3	chr1:102625349-102625395	NONHSAT004870

No data

Variant related genes	Relation type
MEST	miRNA target sites

Extended variants
information (count: 1262 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10493978	chr1:102579307-102579308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115473398	chr1:102579338-102579339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184053666	chr1:102579386-102579387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572484343	chr1:102579429-102579430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371069770	chr1:102579431-102579432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541225540	chr1:102579436-102579437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72985360	chr1:102579437-102579438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550858214	chr1:102579470-102579471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148628029	chr1:102579474-102579475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375375332	chr1:102579490-102579491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529960653	chr1:102579491-102579492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548677032	chr1:102579618-102579619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567003382	chr1:102579661-102579662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574662150	chr1:102579705-102579706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111603137	chr1:102579706-102579707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552261097	chr1:102579715-102579716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570826478	chr1:102579722-102579723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142926739	chr1:102579728-102579729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537624698	chr1:102579776-102579777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556480876	chr1:102579798-102579799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568312333	chr1:102579809-102579810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535682565	chr1:102579825-102579826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188753477	chr1:102579838-102579839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563644756	chr1:102579845-102579846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572570588	chr1:102579877-102579878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151101576	chr1:102579887-102579888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141343670	chr1:102579899-102579900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529264405	chr1:102579911-102579912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576811418	chr1:102579941-102579942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544173463	chr1:102579958-102579959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562797106	chr1:102579962-102579963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12025009	chr1:102579985-102579986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192792721	chr1:102579987-102579988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370913790	chr1:102579993-102579994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182143772	chr1:102579997-102579998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527738088	chr1:102580021-102580022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552648661	chr1:102580060-102580061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187107722	chr1:102580065-102580066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145180131	chr1:102580116-102580117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559682240	chr1:102580203-102580204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191769606	chr1:102580209-102580210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146871425	chr1:102580216-102580217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183856335	chr1:102580217-102580218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566269618	chr1:102580226-102580227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12068519	chr1:102580238-102580239	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12022175	chr1:102580260-102580261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs576739051	chr1:102580330-102580331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544228036	chr1:102580355-102580356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556208633	chr1:102580406-102580407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574755773	chr1:102580480-102580481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	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
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102573800-102583400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:102576000-102580800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:102579800-102580000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:102579800-102580400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:102580000-102580600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:102580000-102586400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:102580200-102580600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:102580200-102581000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:102580400-102581200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:102581000-102581200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:102583400-102584200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:102586400-102586800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:102586600-102587200	Enhancers	Dnd41	blood
14	chr1:102597000-102597200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:102597800-102598000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:102597800-102598600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:102598000-102598200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:102602600-102603000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:102603800-102604200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:102612000-102612200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:102612600-102613200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:102612800-102613200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:102612800-102613200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:102612800-102613400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:102612800-102613400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:102613000-102613600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:102613200-102613400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:102619600-102619800	Enhancers	Fetal Intestine Small	intestine
29	chr1:102619800-102620800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:102620200-102620400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:102620600-102621800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:102620800-102621600	Enhancers	Fetal Intestine Large	intestine
33	chr1:102620800-102622000	Enhancers	Fetal Intestine Small	intestine
34	chr1:102621800-102622200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:102622200-102626600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:102626200-102627200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:102626400-102628400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:102626400-102628400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr1:102626600-102627000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:102626600-102627200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:102626600-102627400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:102627200-102628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:102627400-102628200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:102628200-102628400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:102634200-102634800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:102648600-102649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:102649200-102649600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:102649600-102651400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:102666400-102666800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:102666400-102666800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links