Variant report

Variant	nsv1046376
Chromosome Location	chr13:54785036-54827801
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:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:54780172..54782257-chr13:54783482..54785302,2	MCF-7	breast:
2	chr13:54766693..54769398-chr13:54785918..54788383,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-4	chr13:54813124-54813153	NONHSAT034030
2	lnc-OLFM4-4	chr13:54812998-54813118	NONHSAT034030
3	lnc-OLFM4-4	chr13:54817928-54819360	NONHSAT034031
4	lnc-OLFM4-4	chr13:54813174-54813188	NONHSAT034030
5	lnc-OLFM4-4	chr13:54817929-54818572	NONHSAT034030

No data

Extended variants
information (count: 1260 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1260 , 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	rs1360776	chr13:54785036-54785037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531098852	chr13:54785051-54785052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71439518	chr13:54785065-54785066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530728421	chr13:54785120-54785121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550194587	chr13:54785171-54785172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550821654	chr13:54785202-54785203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373048589	chr13:54785225-54785226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140044310	chr13:54785232-54785233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539284998	chr13:54785266-54785267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552742582	chr13:54785289-54785290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563715608	chr13:54785315-54785316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566280255	chr13:54785335-54785336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535488580	chr13:54785350-54785351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555078531	chr13:54785384-54785385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374982516	chr13:54785413-54785414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575144530	chr13:54785423-54785424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189955149	chr13:54785444-54785445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569197438	chr13:54785456-54785457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202047442	chr13:54785457-54785458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369341808	chr13:54785561-54785562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578247733	chr13:54785580-54785581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149771298	chr13:54785589-54785590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546688226	chr13:54785612-54785613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560621521	chr13:54785634-54785635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574058046	chr13:54785647-54785648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543071487	chr13:54785677-54785678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572983397	chr13:54785746-54785747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562759877	chr13:54785773-54785774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531756837	chr13:54785777-54785778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572184472	chr13:54785784-54785785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564082235	chr13:54785840-54785841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145881021	chr13:54785846-54785847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374398719	chr13:54785866-54785867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199723938	chr13:54785910-54785911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181630623	chr13:54785917-54785918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566290850	chr13:54785944-54785945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535214507	chr13:54785950-54785951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372815796	chr13:54785952-54785953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549034800	chr13:54786022-54786023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566401134	chr13:54786097-54786098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185562557	chr13:54786122-54786123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112103890	chr13:54786150-54786151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189355584	chr13:54786151-54786152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148581792	chr13:54786167-54786168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578250531	chr13:54786223-54786224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs493274	chr13:54786228-54786229	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs180927839	chr13:54786244-54786245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77585809	chr13:54786251-54786252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542828663	chr13:54786319-54786320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185241976	chr13:54786342-54786343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54782600-54786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:54783200-54785400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:54784400-54785400	Enhancers	NHEK	skin
4	chr13:54784400-54785600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:54784600-54785200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:54784600-54785200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr13:54784600-54785200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr13:54784600-54785200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:54784600-54785200	Enhancers	Adipose Nuclei	Adipose
10	chr13:54784600-54785400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:54784600-54785400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:54784600-54785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:54784600-54785400	Enhancers	HMEC	breast
14	chr13:54784600-54785600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:54784600-54785600	Enhancers	Placenta	Placenta
16	chr13:54784600-54786400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr13:54784800-54785200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:54784800-54785200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr13:54784800-54785400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:54784800-54785800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:54785400-54785800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:54785400-54792000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:54785800-54787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:54787000-54787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:54787600-54787800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:54792000-54793000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr13:54792800-54793400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr13:54793200-54793400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:54793600-54794000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:54799400-54802000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:54801000-54801200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr13:54801000-54801400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr13:54801000-54801400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:54801000-54801400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr13:54801000-54801400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:54801000-54801400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr13:54801000-54801400	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr13:54801000-54801400	Enhancers	Brain Substantia Nigra	brain
39	chr13:54801200-54801400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:54801200-54801400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr13:54801200-54801400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:54801200-54801400	ZNF genes & repeats	Gastric	stomach
43	chr13:54801200-54806800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr13:54801400-54808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr13:54801400-54821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr13:54801600-54806400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr13:54802800-54803200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:54803200-54815400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:54804000-54804400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr13:54804400-54806600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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