Variant report

Variant	nsv1136
Chromosome Location	chr13:96892691-96937795
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	chr13:96933248..96934803-chr13:96938522..96940997,2	MCF-7	breast:

Extended variants
information (count: 1513 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1513 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114003768	chr13:96892703-96892704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551443572	chr13:96892707-96892708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368395598	chr13:96892723-96892724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571609423	chr13:96892736-96892737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145103718	chr13:96892739-96892740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138926007	chr13:96892786-96892787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201654227	chr13:96892794-96892795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184917654	chr13:96892804-96892805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72642945	chr13:96892837-96892838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189371119	chr13:96892908-96892909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142457473	chr13:96892913-96892914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143063802	chr13:96892966-96892967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148197211	chr13:96893001-96893002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372316450	chr13:96893023-96893024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141141341	chr13:96893089-96893090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543838434	chr13:96893097-96893098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150804657	chr13:96893102-96893103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181068591	chr13:96893132-96893133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377075436	chr13:96893294-96893295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11369957	chr13:96893395-96893396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397716617	chr13:96893405-96893406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs55910913	chr13:96893406-96893407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200917783	chr13:96893407-96893408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542762438	chr13:96893414-96893415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187220598	chr13:96893428-96893429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189333987	chr13:96893437-96893438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552051161	chr13:96893487-96893488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76956907	chr13:96893496-96893497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61966863	chr13:96893549-96893550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs376279987	chr13:96893561-96893562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551011287	chr13:96893576-96893577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9556532	chr13:96893599-96893600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201011040	chr13:96893683-96893684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138199881	chr13:96893689-96893690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538484597	chr13:96893751-96893752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558798008	chr13:96893808-96893809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72642946	chr13:96893879-96893880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537418227	chr13:96893884-96893885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554145208	chr13:96893889-96893890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574151772	chr13:96893946-96893947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368257440	chr13:96894036-96894037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372502410	chr13:96894040-96894041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181438781	chr13:96894044-96894045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185923391	chr13:96894061-96894062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200295628	chr13:96894100-96894101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545373142	chr13:96894102-96894103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374111192	chr13:96894122-96894123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560039211	chr13:96894124-96894125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573366919	chr13:96894125-96894126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183862905	chr13:96894126-96894127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Basal cell lymphoma	21115979	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96891200-96895600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr13:96892600-96895600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:96895400-96896000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:96895600-96895800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:96895600-96896000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr13:96895600-96897800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:96895800-96896000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:96895800-96899800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:96896000-96896600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:96896000-96899800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:96896000-96899800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:96896600-96896800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:96896800-96901000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:96897800-96902800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:96899600-96901200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:96899600-96901800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:96899800-96900600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:96899800-96900600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:96899800-96901400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr13:96899800-96901400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:96899800-96901400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:96900000-96900600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr13:96900000-96901200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:96900200-96900600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:96900400-96900600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr13:96900400-96900800	Enhancers	Colon Smooth Muscle	Colon
27	chr13:96900600-96901000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:96900800-96901400	Enhancers	Fetal Intestine Small	intestine
29	chr13:96901000-96901400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:96901000-96901600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:96902800-96903600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
32	chr13:96903600-96907000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr13:96907000-96907400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr13:96907400-96918000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr13:96918000-96918600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr13:96918600-96922200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:96921800-96925200	Enhancers	Fetal Intestine Large	intestine
38	chr13:96922200-96922600	Enhancers	Pancreas	Pancrea
39	chr13:96922200-96922800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr13:96922200-96924800	Enhancers	Fetal Intestine Small	intestine
41	chr13:96922600-96926600	Weak transcription	Pancreas	Pancrea
42	chr13:96922800-96923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr13:96922800-96924000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr13:96923000-96923400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr13:96923000-96923400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr13:96923000-96923400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr13:96923000-96923400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:96923000-96924000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr13:96923200-96923400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr13:96923400-96924200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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