Variant report

Variant	nsv1039752
Chromosome Location	chr13:55199645-55212421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114505901..114506720-chr13:55199515..55200372,2	MCF-7	breast:
2	chr13:55199830..55202056-chr13:55206437..55209228,2	MCF-7	breast:
3	chr13:55199830..55202056-chr13:55206437..55209228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163349	chromatin interactions

Extended variants
information (count: 409 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527350283	chr13:55199658-55199659	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570531547	chr13:55199674-55199675	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs140986752	chr13:55199762-55199763	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185952791	chr13:55199865-55199866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9536788	chr13:55199917-55199918	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150202991	chr13:55199956-55199957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1382462	chr13:55200003-55200004	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs376824872	chr13:55200024-55200025	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189681163	chr13:55200036-55200037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533335274	chr13:55200039-55200040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200387551	chr13:55200077-55200078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554833243	chr13:55200105-55200106	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138725490	chr13:55200156-55200157	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181225069	chr13:55200159-55200160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115776099	chr13:55200164-55200165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559967051	chr13:55200195-55200196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145404346	chr13:55200217-55200218	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1478656	chr13:55200224-55200225	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535710326	chr13:55200235-55200236	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542532456	chr13:55200276-55200277	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371823505	chr13:55200295-55200296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535498012	chr13:55200297-55200298	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562452786	chr13:55200324-55200325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs1478657	chr13:55200326-55200327	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550560671	chr13:55200327-55200328	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563991252	chr13:55200356-55200357	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140460005	chr13:55200362-55200363	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546316722	chr13:55200430-55200431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545877141	chr13:55200450-55200451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185989960	chr13:55200501-55200502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375209268	chr13:55200530-55200531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568803915	chr13:55200533-55200534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535304760	chr13:55200550-55200551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190449577	chr13:55200551-55200552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60505198	chr13:55200566-55200567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75045429	chr13:55200608-55200609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569133961	chr13:55200657-55200658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145906222	chr13:55200659-55200660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557337438	chr13:55200703-55200704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537557190	chr13:55200790-55200791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74079266	chr13:55200861-55200862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543954445	chr13:55200873-55200874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539927278	chr13:55200892-55200893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553546862	chr13:55200970-55200971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9597021	chr13:55200996-55200997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574952165	chr13:55201071-55201072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145150610	chr13:55201081-55201082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371226148	chr13:55201082-55201083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542412848	chr13:55201096-55201097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555745522	chr13:55201127-55201128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55198200-55199800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:55199200-55200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:55199800-55200600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:55200000-55200800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:55200200-55200600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:55200200-55200800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:55200200-55200800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr13:55200400-55200800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr13:55200400-55200800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr13:55200600-55200800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:55200800-55207600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:55201800-55202200	Enhancers	Pancreas	Pancrea
13	chr13:55207200-55207600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr13:55207400-55207600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:55207400-55207800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:55207400-55210000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:55207600-55207800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:55207600-55207800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:55207600-55207800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:55207600-55208000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:55207600-55208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:55207600-55208000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:55207600-55208000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr13:55207600-55210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:55207600-55210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:55207800-55208000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr13:55207800-55208000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:55207800-55210200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:55207800-55211400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr13:55208000-55210200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:55208000-55210600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr13:55208000-55210600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr13:55208000-55211600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr13:55208000-55212600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:55208200-55211600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:55209200-55209400	Enhancers	Fetal Intestine Small	intestine
37	chr13:55209400-55210200	Weak transcription	Fetal Intestine Small	intestine
38	chr13:55210000-55210400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:55210200-55210400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr13:55210200-55210800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:55210200-55210800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:55210200-55210800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr13:55210200-55210800	Enhancers	Fetal Intestine Small	intestine
44	chr13:55210400-55210600	Enhancers	Gastric	stomach
45	chr13:55210400-55210800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr13:55210400-55210800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:55210400-55211000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:55210400-55211000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr13:55210600-55210800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr13:55210600-55210800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links