Variant report

Variant	nsv1007511
Chromosome Location	chr1:102563992-102768968
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:10)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
2	chr1:102569587..102571901-chr1:102578895..102580582,2	K562	blood:
3	chr1:102569587..102571901-chr1:102578895..102580582,2	K562	blood:
4	chr1:54418703..54421611-chr1:102613977..102616372,3	MCF-7	breast:
5	chr1:102701228..102703682-chr1:102706014..102708929,2	K562	blood:
6	chr1:102580503..102583097-chr1:102602225..102604313,2	K562	blood:
7	chr1:102580503..102583097-chr1:102602225..102604313,2	K562	blood:
8	chr1:102685538..102686359-chr1:201441216..201441918,2	MCF-7	breast:
9	chr1:102459133..102459923-chr1:102657241..102657780,2	MCF-7	breast:
10	chr1:102285335..102286320-chr1:102656866..102657699,4	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM3-3	chr1:102625506-102625565	NONHSAT004870
2	lnc-OLFM3-1	chr1:102665295-102665553	XLOC_000943
3	lnc-OLFM3-3	chr1:102625349-102625395	NONHSAT004870
4	lnc-OLFM3-3	chr1:102626679-102626773	NONHSAT004870
5	lnc-OLFM3-3	chr1:102627638-102627774	NONHSAT004870
6	lnc-S1PR1-5	chr1:102571334-102571564	XLOC_000321
7	lnc-S1PR1-5	chr1:102569886-102569928	XLOC_000321

No data

Variant related genes	Relation type
MEST	miRNA target sites

Extended variants
information (count: 1915 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1915 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11164378	chr1:102563992-102563993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12740287	chr1:102563999-102564000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568443706	chr1:102564003-102564004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538520662	chr1:102564006-102564007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556841720	chr1:102564030-102564031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4609450	chr1:102564075-102564076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536487631	chr1:102564076-102564077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554743200	chr1:102564137-102564138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573321833	chr1:102564140-102564141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12135563	chr1:102564143-102564144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572236645	chr1:102564163-102564164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565250331	chr1:102564165-102564166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554611740	chr1:102564212-102564213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143096552	chr1:102564235-102564236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545889690	chr1:102564253-102564254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374422376	chr1:102564270-102564271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563213254	chr1:102564380-102564381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75724912	chr1:102564385-102564386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112016006	chr1:102564476-102564477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557970498	chr1:102564482-102564483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183876229	chr1:102564498-102564499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138709725	chr1:102564622-102564623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560807680	chr1:102564671-102564672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528155799	chr1:102564683-102564684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546312751	chr1:102564703-102564704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570863796	chr1:102564707-102564708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11164379	chr1:102564846-102564847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576523341	chr1:102564882-102564883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188153260	chr1:102564918-102564919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113746511	chr1:102565005-102565006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181310555	chr1:102565017-102565018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146698880	chr1:102565025-102565026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377304920	chr1:102565027-102565028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572973188	chr1:102565028-102565029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370557182	chr1:102565045-102565046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186317187	chr1:102565130-102565131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191782492	chr1:102565131-102565132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117667832	chr1:102565172-102565173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544661151	chr1:102565200-102565201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12749926	chr1:102565246-102565247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575114101	chr1:102565263-102565264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72985339	chr1:102565271-102565272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527886724	chr1:102565309-102565310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527427851	chr1:102565323-102565324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539902390	chr1:102565334-102565335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72985341	chr1:102565372-102565373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531977738	chr1:102565375-102565376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139352802	chr1:102565383-102565384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76030269	chr1:102565384-102565385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529972149	chr1:102565400-102565401	Weak transcription	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:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102561800-102565000	Enhancers	HMEC	breast
2	chr1:102562400-102564800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:102562600-102564200	Enhancers	Placenta	Placenta
4	chr1:102562800-102564400	Enhancers	Stomach Mucosa	stomach
5	chr1:102563200-102564400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:102563800-102567800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:102564400-102568000	Weak transcription	Stomach Mucosa	stomach
8	chr1:102564600-102565000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:102565600-102568400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:102565800-102568600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:102566200-102566400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:102566200-102567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:102566400-102567800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:102566800-102567000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:102566800-102568400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:102567000-102567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:102567000-102567800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:102567600-102568200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:102567600-102568200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:102567600-102568400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:102567800-102568200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:102567800-102568200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:102567800-102568200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:102567800-102568200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:102567800-102568400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:102567800-102568400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:102567800-102568400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:102568000-102568200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:102568000-102568200	Enhancers	Stomach Mucosa	stomach
30	chr1:102568000-102568400	Enhancers	Fetal Intestine Small	intestine
31	chr1:102568000-102568800	Enhancers	Fetal Intestine Large	intestine
32	chr1:102568200-102569800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:102568200-102570200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:102568200-102570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:102568200-102570400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:102568200-102570600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:102568200-102571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:102568400-102568800	Weak transcription	Fetal Intestine Small	intestine
39	chr1:102568400-102570200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:102568400-102570400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:102568400-102570400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:102568400-102570600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:102568400-102570600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:102568400-102571800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:102568600-102569600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:102568800-102569800	Weak transcription	Fetal Intestine Large	intestine
47	chr1:102568800-102570600	Enhancers	Fetal Intestine Small	intestine
48	chr1:102569600-102569800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:102569800-102570200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:102569800-102570400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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