Variant report

Variant	nsv1030593
Chromosome Location	chr5:12183469-12250607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:12237914..12240147-chr5:12240749..12242616,3	MCF-7	breast:
2	chr5:12237914..12240147-chr5:12240749..12242616,3	MCF-7	breast:
3	chr5:12235722..12238452-chr5:12260022..12262420,2	MCF-7	breast:
4	chr5:12232884..12235598-chr5:12236821..12239315,2	MCF-7	breast:
5	chr10:129226745..129228474-chr5:12214762..12216262,2	MCF-7	breast:
6	chr5:12232884..12235598-chr5:12236821..12239315,2	MCF-7	breast:
7	chr5:5813548..5816477-chr5:12215345..12217101,2	MCF-7	breast:

Extended variants
information (count: 1250 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79760733	chr5:12183474-12183475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537875319	chr5:12183475-12183476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536921967	chr5:12183477-12183478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556549942	chr5:12183503-12183504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574728399	chr5:12183516-12183517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536188268	chr5:12183547-12183548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373835484	chr5:12183560-12183561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554042938	chr5:12183629-12183630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539546160	chr5:12183659-12183660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116303774	chr5:12183683-12183684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545948736	chr5:12183687-12183688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7714778	chr5:12183747-12183748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187845298	chr5:12183765-12183766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200446435	chr5:12183779-12183780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543947761	chr5:12183780-12183781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376629869	chr5:12183784-12183785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10071250	chr5:12183800-12183801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74380560	chr5:12183827-12183828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577119375	chr5:12183857-12183858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541280368	chr5:12183859-12183860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7715287	chr5:12183860-12183861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527499577	chr5:12183878-12183879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147439191	chr5:12183883-12183884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73057396	chr5:12183899-12183900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535860832	chr5:12183912-12183913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183462655	chr5:12183914-12183915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370891372	chr5:12183935-12183936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538370819	chr5:12183936-12183937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs987031	chr5:12183983-12183984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568490751	chr5:12184035-12184036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139441641	chr5:12184059-12184060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187946423	chr5:12184093-12184094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79028956	chr5:12184184-12184185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539665008	chr5:12184204-12184205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557954355	chr5:12184215-12184216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547538342	chr5:12184268-12184269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57331416	chr5:12184271-12184272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562440624	chr5:12184302-12184303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192460730	chr5:12184367-12184368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11957865	chr5:12184375-12184376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560471271	chr5:12184402-12184403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527612601	chr5:12184404-12184405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145067364	chr5:12184477-12184478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13154756	chr5:12184526-12184527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs13172709	chr5:12184542-12184543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185307461	chr5:12184573-12184574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147587324	chr5:12184579-12184580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78742054	chr5:12184592-12184593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149046401	chr5:12184603-12184604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77503578	chr5:12184609-12184610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12181800-12191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:12183400-12183800	Weak transcription	Fetal Brain Male	brain
3	chr5:12183800-12184200	Enhancers	Fetal Brain Male	brain
4	chr5:12193000-12194400	Enhancers	Fetal Brain Male	brain
5	chr5:12208400-12208800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:12208400-12208800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:12208400-12209000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:12208400-12209200	Enhancers	Fetal Brain Male	brain
9	chr5:12208600-12208800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:12208600-12209000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:12208600-12209000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:12208600-12209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:12209000-12214600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:12209200-12209600	Weak transcription	Fetal Brain Male	brain
15	chr5:12209600-12209800	Enhancers	Fetal Brain Male	brain
16	chr5:12209800-12210800	Weak transcription	Fetal Brain Male	brain
17	chr5:12210800-12211000	Enhancers	Fetal Brain Male	brain
18	chr5:12211000-12211200	Weak transcription	Fetal Brain Male	brain
19	chr5:12213600-12213800	Enhancers	Fetal Brain Male	brain
20	chr5:12214800-12217200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:12216800-12217600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:12216800-12218200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:12217000-12217200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:12217000-12218200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:12217000-12218200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:12217200-12217400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:12217200-12217600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:12217200-12218000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:12217200-12218000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:12217400-12218000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:12217800-12218000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:12217800-12218200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:12230800-12231000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:12230800-12232200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:12231000-12231800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:12231000-12231800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:12231000-12231800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:12231000-12232000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:12231400-12231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:12231600-12232000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:12231600-12232200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:12231600-12232200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:12232000-12232200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:12232200-12234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:12232200-12235600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:12235600-12235800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr5:12235600-12236200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:12235800-12236000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:12236000-12237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:12236200-12236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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