Variant report

Variant	nsv882227
Chromosome Location	chr5:79347336-79351735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79350174..79351742-chr5:79371407..79373227,2	MCF-7	breast:
2	chr5:79348642..79351231-chr5:79351742..79353321,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERINC5-1	chr5:79348197-79348724	ENSG00000249825.1

Extended variants
information (count: 140 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2434277	chr5:79347336-79347337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561229634	chr5:79347341-79347342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76935818	chr5:79347526-79347527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532570226	chr5:79347548-79347549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559342871	chr5:79347555-79347556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540229223	chr5:79347605-79347606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2438649	chr5:79347639-79347640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185728524	chr5:79347692-79347693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs689879	chr5:79347757-79347758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569003155	chr5:79347776-79347777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531424113	chr5:79347855-79347856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190189556	chr5:79347962-79347963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10447179	chr5:79348037-79348038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568343736	chr5:79348042-79348043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534131523	chr5:79348156-79348157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553793303	chr5:79348183-79348184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530617744	chr5:79348186-79348187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10447180	chr5:79348225-79348226	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs181661748	chr5:79348280-79348281	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs185557535	chr5:79348287-79348288	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs556000454	chr5:79348292-79348293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs540533623	chr5:79348426-79348427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs200095003	chr5:79348429-79348430	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs17880390	chr5:79348435-79348436	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs17879615	chr5:79348439-79348440	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141788899	chr5:79348496-79348497	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs374319803	chr5:79348508-79348509	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs188706900	chr5:79348603-79348604	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs560066762	chr5:79348642-79348643	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs17879362	chr5:79348662-79348663	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs17879218	chr5:79348687-79348688	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs404375	chr5:79348759-79348760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs17885225	chr5:79348774-79348775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs186068522	chr5:79348777-79348778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536107908	chr5:79348806-79348807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371354163	chr5:79348807-79348808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561904485	chr5:79348810-79348811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17882273	chr5:79348811-79348812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527543456	chr5:79348925-79348926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547719258	chr5:79348959-79348960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190941744	chr5:79348991-79348992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539047082	chr5:79348993-79348994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374855672	chr5:79349020-79349021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200911362	chr5:79349029-79349030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13174295	chr5:79349157-79349158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535213613	chr5:79349216-79349217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5869016	chr5:79349230-79349231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372328271	chr5:79349262-79349263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147083021	chr5:79349302-79349303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183993123	chr5:79349391-79349392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79332800-79350200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:79338200-79363600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:79338200-79367600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:79338400-79355200	Weak transcription	Brain Anterior Caudate	brain
5	chr5:79339200-79354600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:79340000-79363400	Weak transcription	Left Ventricle	heart
7	chr5:79344200-79355200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:79345200-79364200	Weak transcription	Right Ventricle	heart
9	chr5:79347200-79351200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:79347800-79355600	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:79348200-79366400	Weak transcription	Brain Substantia Nigra	brain
12	chr5:79350400-79350800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:79350600-79351400	Enhancers	HMEC	breast
14	chr5:79350600-79351600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:79350600-79363200	Weak transcription	Psoas Muscle	Psoas
16	chr5:79350800-79351000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:79351000-79351400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:79351000-79352000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:79351000-79352400	Enhancers	NHEK	skin
20	chr5:79351200-79351400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:79351200-79351800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:79351200-79352000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:79351200-79352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:79351200-79352000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:79351200-79352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:79351400-79351600	Enhancers	Pancreas	Pancrea
27	chr5:79351400-79351800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:79351400-79351800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:79351400-79351800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr5:79351400-79351800	Flanking Active TSS	HMEC	breast
31	chr5:79351400-79352000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:79351400-79352000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:79351400-79352000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:79351400-79352000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:79351400-79352000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:79351400-79352000	Enhancers	GM12878-XiMat	blood
37	chr5:79351400-79352200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr5:79351400-79352200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:79351600-79352000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:79351600-79352200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:79351600-79352400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:79351600-79352600	Enhancers	Fetal Heart	heart
43	chr5:79351600-79379200	Weak transcription	Pancreas	Pancrea

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