Variant report

Variant	nsv1025345
Chromosome Location	chr5:96747650-96777286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96757244..96760010-chr5:96764877..96766486,2	MCF-7	breast:
2	chr5:96518180..96520707-chr5:96752048..96753718,2	K562	blood:
3	chr5:96757244..96760010-chr5:96764877..96766486,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-1	chr5:96767448-96767604	ENSG00000251513.1
2	lnc-CTD-2215E18.1.1-1	chr5:96772257-96772921	ENSG00000251513.1

Variant related genes	Relation type
ENSG00000058729	chromatin interactions
ENSG00000251513	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11135513	chr5:96747650-96747651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112191031	chr5:96747722-96747723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566693977	chr5:96747740-96747741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4869351	chr5:96747744-96747745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs111684710	chr5:96747756-96747757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570674202	chr5:96747768-96747769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191514574	chr5:96747781-96747782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150931382	chr5:96747798-96747799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568460620	chr5:96747853-96747854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567666746	chr5:96747882-96747883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535518416	chr5:96747892-96747893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13436264	chr5:96747893-96747894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs200782600	chr5:96747930-96747931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144476832	chr5:96747943-96747944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58932416	chr5:96747944-96747945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200054422	chr5:96747945-96747946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201173970	chr5:96747946-96747947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201933934	chr5:96747947-96747948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572602077	chr5:96747978-96747979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541302013	chr5:96747985-96747986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557898633	chr5:96747996-96747997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576264618	chr5:96747997-96747998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113724702	chr5:96748012-96748013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569270931	chr5:96748019-96748020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562291697	chr5:96748034-96748035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182962373	chr5:96748108-96748109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541419975	chr5:96748132-96748133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560098010	chr5:96748228-96748229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17087533	chr5:96748233-96748234	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552477551	chr5:96748235-96748236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115427166	chr5:96748260-96748261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531583089	chr5:96748281-96748282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538578283	chr5:96748336-96748337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550287412	chr5:96748340-96748341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568523778	chr5:96748354-96748355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112020352	chr5:96748469-96748470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547445123	chr5:96748489-96748490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187626330	chr5:96748620-96748621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370824477	chr5:96748628-96748629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539731290	chr5:96748644-96748645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1485470	chr5:96748665-96748666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564510020	chr5:96748718-96748719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572988600	chr5:96748743-96748744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192487200	chr5:96748779-96748780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555551254	chr5:96748813-96748814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116481183	chr5:96748843-96748844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541931393	chr5:96748901-96748902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575139359	chr5:96748923-96748924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559876611	chr5:96748955-96748956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183555995	chr5:96748994-96748995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96738200-96750200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:96745600-96753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:96747000-96750000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:96747200-96748600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:96747400-96748200	Weak transcription	HSMM	muscle
6	chr5:96747400-96749800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:96747600-96748600	Weak transcription	HSMMtube	muscle
8	chr5:96748200-96749200	Enhancers	HSMM	muscle
9	chr5:96748600-96748800	Enhancers	GM12878-XiMat	blood
10	chr5:96748600-96748800	Enhancers	HSMMtube	muscle
11	chr5:96748600-96749000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:96748600-96749400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:96748600-96750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:96749000-96750200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:96749000-96750200	Weak transcription	GM12878-XiMat	blood
16	chr5:96749400-96749800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:96749800-96750600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:96749800-96751800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:96750000-96750400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:96750000-96750800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:96750200-96750600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:96750200-96750600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:96750200-96750600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:96750200-96750600	Enhancers	GM12878-XiMat	blood
25	chr5:96750200-96751000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:96750600-96753400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:96750600-96753400	Weak transcription	GM12878-XiMat	blood
28	chr5:96751000-96753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:96751800-96753200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:96753200-96757000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:96753400-96756600	Enhancers	GM12878-XiMat	blood
32	chr5:96753400-96757000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:96753600-96753800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:96753600-96754000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:96753600-96755200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:96753800-96754200	Enhancers	Brain Substantia Nigra	brain
37	chr5:96753800-96754600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:96754000-96754800	Enhancers	Brain Germinal Matrix	brain
39	chr5:96755200-96755400	Enhancers	Ovary	ovary
40	chr5:96755200-96756200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:96755600-96756800	Weak transcription	Ovary	ovary
42	chr5:96756200-96756600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:96756400-96756800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:96756400-96757000	Enhancers	Fetal Lung	lung
45	chr5:96756800-96757000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:96756800-96757000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr5:96756800-96757400	Enhancers	Ovary	ovary

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