Variant report

Variant	nsv4919
Chromosome Location	chr5:93661579-93681399
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	chr5:93662792..93664355-chr8:144946755..144948647,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD32-8	chr5:93676475-93676692	uc_172_+
2	lnc-FAM172A-11	chr5:93676475-93676692	uc_172_-

Extended variants
information (count: 601 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:601 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73139399	chr5:93661731-93661732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547452614	chr5:93661783-93661784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567189172	chr5:93661787-93661788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565451005	chr5:93661817-93661818	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534374172	chr5:93661825-93661826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560009308	chr5:93661837-93661838	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555839099	chr5:93661840-93661841	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569621364	chr5:93661846-93661847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538508185	chr5:93661894-93661895	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558350697	chr5:93661901-93661902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573489750	chr5:93661944-93661945	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149664199	chr5:93661978-93661979	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554237905	chr5:93662028-93662029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574006714	chr5:93662050-93662051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184628943	chr5:93662169-93662170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373900127	chr5:93662203-93662204	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187655138	chr5:93662209-93662210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545695444	chr5:93662224-93662225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553947594	chr5:93662227-93662228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192623738	chr5:93662263-93662264	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs34414859	chr5:93662341-93662342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs29952	chr5:93662390-93662391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546367365	chr5:93662427-93662428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547221922	chr5:93662449-93662450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567356826	chr5:93662496-93662497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529711900	chr5:93662515-93662516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549762874	chr5:93662625-93662626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569280903	chr5:93662696-93662697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556620383	chr5:93662723-93662724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538572079	chr5:93662754-93662755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558421433	chr5:93662807-93662808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565586717	chr5:93662813-93662814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184931328	chr5:93662925-93662926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554430630	chr5:93662971-93662972	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574095356	chr5:93662990-93662991	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76068684	chr5:93663030-93663031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13174927	chr5:93663037-93663038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545658969	chr5:93663062-93663063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189308782	chr5:93663072-93663073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs29951	chr5:93663087-93663088	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529220951	chr5:93663089-93663090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376626072	chr5:93663117-93663118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76046039	chr5:93663153-93663154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78500035	chr5:93663191-93663192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537379374	chr5:93663204-93663205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116771389	chr5:93663268-93663269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541621781	chr5:93663269-93663270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181730124	chr5:93663455-93663456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558765303	chr5:93663518-93663519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367619679	chr5:93663540-93663541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93629000-93673600	Weak transcription	Hela-S3	cervix
2	chr5:93644000-93675200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:93651600-93664600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:93652600-93664400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:93653400-93664400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:93653400-93679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:93655200-93664600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:93655200-93665000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:93658400-93661800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:93661000-93661600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:93661400-93661600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:93661400-93663000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:93661600-93663200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:93661600-93682200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:93661800-93662000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:93662000-93662200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:93662200-93662400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:93662400-93662800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:93662800-93663000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:93663000-93663400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:93663600-93670600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:93664400-93666800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:93664400-93666800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr5:93664600-93666000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr5:93664600-93666800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr5:93665000-93666000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr5:93665000-93666200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr5:93666000-93670600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:93666000-93672400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:93666200-93669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:93666600-93671600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:93666800-93669800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:93666800-93672400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:93666800-93672600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:93669600-93682200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:93669800-93680600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:93670600-93671000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr5:93670600-93671000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:93671000-93672000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:93671000-93674200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:93671000-93675000	Weak transcription	Left Ventricle	heart
42	chr5:93671600-93673800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:93671600-93682600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:93671800-93689400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:93672000-93676400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:93672000-93682800	Weak transcription	Pancreas	Pancrea
47	chr5:93672400-93673000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:93672400-93673800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr5:93672600-93677600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:93673000-93678200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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