Variant report

Variant	esv2760956
Chromosome Location	chr5:45180567-45220336
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:3076387..3078714-chr5:45193841..45195630,2	MCF-7	breast:
2	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:
3	chr5:45189744..45191464-chr5:45191625..45193258,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-11	chr5:45212601-45212751	NONHSAT101357
2	lnc-MRPS30-11	chr5:45214560-45217161	NONHSAT101357

Extended variants
information (count: 1161 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573517382	chr5:45180583-45180584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192701798	chr5:45180636-45180637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559226530	chr5:45180665-45180666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528328719	chr5:45180668-45180669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561553349	chr5:45180685-45180686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113646027	chr5:45180699-45180700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184481584	chr5:45180704-45180705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188982734	chr5:45180712-45180713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530409219	chr5:45180769-45180770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547477219	chr5:45180827-45180828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567338949	chr5:45180858-45180859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559530062	chr5:45180859-45180860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536839979	chr5:45180862-45180863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181380961	chr5:45180868-45180869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567058500	chr5:45180876-45180877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184788747	chr5:45180898-45180899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558967443	chr5:45180913-45180914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35060050	chr5:45180964-45180965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532953986	chr5:45181025-45181026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190260840	chr5:45181027-45181028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537818324	chr5:45181031-45181032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555068680	chr5:45181042-45181043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35984489	chr5:45181044-45181045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181020053	chr5:45181062-45181063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535269877	chr5:45181112-45181113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542424223	chr5:45181113-45181114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552789584	chr5:45181120-45181121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572679340	chr5:45181128-45181129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551424496	chr5:45181129-45181130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545320253	chr5:45181135-45181136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537309763	chr5:45181163-45181164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553593443	chr5:45181175-45181176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530548653	chr5:45181199-45181200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368530479	chr5:45181250-45181251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556980158	chr5:45181288-45181289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569947741	chr5:45181297-45181298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185856161	chr5:45181326-45181327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527954726	chr5:45181373-45181374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560973094	chr5:45181502-45181503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529853328	chr5:45181507-45181508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573752031	chr5:45181514-45181515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112902972	chr5:45181543-45181544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113499074	chr5:45181587-45181588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114938993	chr5:45181608-45181609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113164613	chr5:45181612-45181613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552853157	chr5:45181616-45181617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569423598	chr5:45181690-45181691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368023296	chr5:45181827-45181828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7711446	chr5:45181877-45181878	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs113341255	chr5:45181997-45181998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45179800-45182000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:45180000-45181600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:45181000-45182400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:45181400-45182800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:45181600-45182200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:45181600-45182200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:45181600-45182400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:45181600-45182400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:45181600-45182400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:45181800-45183400	Enhancers	Fetal Heart	heart
11	chr5:45182000-45182400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:45182000-45182400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:45182400-45192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:45182800-45184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:45183000-45183600	Enhancers	Fetal Stomach	stomach
16	chr5:45183000-45184000	Enhancers	Adipose Nuclei	Adipose
17	chr5:45184000-45184400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:45184400-45192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:45189200-45189400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:45189600-45190000	Enhancers	Liver	Liver
21	chr5:45192400-45193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:45192400-45193400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:45192400-45193400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:45192600-45193400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:45195000-45195800	Enhancers	Brain Germinal Matrix	brain
26	chr5:45195200-45195600	Enhancers	Fetal Brain Female	brain
27	chr5:45200000-45205600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:45204000-45204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:45204200-45204400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:45204400-45204600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr5:45204400-45204600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr5:45204600-45204800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:45204600-45205400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:45204600-45205600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:45204800-45205000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:45204800-45205600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr5:45204800-45205800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:45205000-45206600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:45205400-45205600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:45205400-45205600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:45205400-45206200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:45205400-45206600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:45205600-45206000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:45205600-45206200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:45205600-45206400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:45205600-45206600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:45205800-45206200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:45206200-45206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr5:45206200-45207200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:45206200-45207400	Enhancers	HUES64 Cell Line	embryonic stem cell

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