Variant report

Variant	nsv900493
Chromosome Location	chr13:70508163-70578306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:70521896..70524416-chr13:70526463..70528042,2	MCF-7	breast:
2	chr13:70508852..70509449-chr13:70884586..70885490,2	MCF-7	breast:
3	chr13:70508992..70509506-chr20:33082627..33083129,2	MCF-7	breast:
4	chr13:70521896..70524416-chr13:70526463..70528042,2	MCF-7	breast:

Extended variants
information (count: 1273 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1273 , 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	rs12867150	chr13:70510609-70510610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12865877	chr13:70510627-70510628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs546138650	chr13:70510631-70510632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140908702	chr13:70510638-70510639	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182817490	chr13:70510639-70510640	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77904100	chr13:70510640-70510641	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368933442	chr13:70510664-70510665	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs12865902	chr13:70510673-70510674	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2875576	chr13:70510678-70510679	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12866333	chr13:70510692-70510693	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368181631	chr13:70510712-70510713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372330805	chr13:70510714-70510715	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs71116964	chr13:70510725-70510726	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527511057	chr13:70510743-70510744	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144836927	chr13:70510784-70510785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540850334	chr13:70510815-70510816	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571428316	chr13:70510817-70510818	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186592359	chr13:70510821-70510822	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191052235	chr13:70510824-70510825	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs138228588	chr13:70510833-70510834	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569599460	chr13:70510851-70510852	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7986882	chr13:70510866-70510867	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs367745650	chr13:70510878-70510879	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141189772	chr13:70510902-70510903	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183249921	chr13:70510903-70510904	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144962153	chr13:70510907-70510908	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138894645	chr13:70510916-70510917	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571077911	chr13:70510928-70510929	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375321270	chr13:70510930-70510931	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539792038	chr13:70510968-70510969	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs187574747	chr13:70510986-70510987	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371789185	chr13:70511009-70511010	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576394424	chr13:70511020-70511021	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541900238	chr13:70511036-70511037	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs555415316	chr13:70511056-70511057	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572224614	chr13:70511057-70511058	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540789100	chr13:70511075-70511076	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536484292	chr13:70511092-70511093	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376680284	chr13:70511094-70511095	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564132701	chr13:70511095-70511096	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2482570	chr13:70511097-70511098	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193066033	chr13:70511107-70511108	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113676379	chr13:70511180-70511181	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs61964162	chr13:70511251-70511252	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs573051364	chr13:70511275-70511276	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549013148	chr13:70511299-70511300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs57764509	chr13:70511393-70511394	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565739556	chr13:70511400-70511401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144811018	chr13:70511406-70511407	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs148127683	chr13:70511410-70511411	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70510600-70512800	Active TSS	Hela-S3	cervix
2	chr13:70510800-70511200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:70512200-70512600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr13:70512800-70513600	Weak transcription	Hela-S3	cervix
5	chr13:70513600-70514400	Active TSS	Hela-S3	cervix
6	chr13:70514400-70515200	Weak transcription	Hela-S3	cervix
7	chr13:70515200-70515400	Enhancers	Hela-S3	cervix
8	chr13:70515400-70516000	Weak transcription	Hela-S3	cervix
9	chr13:70516000-70516200	Enhancers	Hela-S3	cervix
10	chr13:70520800-70522800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:70521200-70521600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr13:70521400-70521800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:70521600-70521800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr13:70521800-70522000	Enhancers	GM12878-XiMat	blood
15	chr13:70521800-70522200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr13:70521800-70522400	Enhancers	Fetal Kidney	kidney
17	chr13:70521800-70522600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:70522000-70522200	Flanking Active TSS	GM12878-XiMat	blood
19	chr13:70522200-70522400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr13:70522200-70522400	Enhancers	GM12878-XiMat	blood
21	chr13:70522400-70522800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr13:70522400-70522800	Flanking Active TSS	GM12878-XiMat	blood
23	chr13:70522600-70523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:70522800-70523000	Enhancers	GM12878-XiMat	blood
25	chr13:70525200-70525400	Enhancers	Hela-S3	cervix
26	chr13:70525400-70533200	Weak transcription	Hela-S3	cervix
27	chr13:70528600-70529800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:70528600-70530000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:70530000-70533200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:70533000-70534000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:70533200-70533600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:70533200-70533600	Enhancers	Hela-S3	cervix
33	chr13:70533200-70533800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr13:70533200-70534000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr13:70533200-70534000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:70533200-70534000	Enhancers	Fetal Intestine Large	intestine
37	chr13:70533200-70534200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr13:70533200-70534200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:70533200-70534200	Enhancers	Fetal Intestine Small	intestine
40	chr13:70533400-70534200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr13:70533400-70534600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr13:70533600-70535400	Weak transcription	Hela-S3	cervix
43	chr13:70533800-70534000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:70533800-70534200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:70533800-70534400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:70534000-70535200	Weak transcription	Fetal Intestine Large	intestine
47	chr13:70534000-70538200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:70534400-70534600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr13:70535400-70535600	Enhancers	Fetal Intestine Large	intestine
50	chr13:70535400-70535600	Flanking Active TSS	Hela-S3	cervix

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