Variant report

Variant	esv2761813
Chromosome Location	chr13:95986166-95999182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:95994700-95994850	GM12873	blood:	n/a	n/a
2	FOS	chr13:95996438-95996453	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr13:95993713-95993913	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr13:95993713-95993925	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr13:95996131-95996590	HUVEC	blood vessel:	n/a	chr13:95996279-95996288
6	FOS	chr13:95987983-95988273	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr13:95987968-95988342	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr13:95988058-95988249	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr13:95987978-95988310	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA2	chr13:95996093-95996678	HUVEC	blood vessel:	n/a	n/a
11	JUN	chr13:95996061-95996617	HUVEC	blood vessel:	n/a	chr13:95996279-95996288
12	MAFK	chr13:95992553-95992702	HepG2	liver:	n/a	n/a
13	MYC	chr13:95996566-95996571	HUVEC	blood vessel:	n/a	n/a
14	NR3C1	chr13:95996357-95996730	A549	lung:	n/a	chr13:95996620-95996629
15	POLR2A	chr13:95989969-95990157	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr13:95996042-95996679	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr13:95990389-95990449	MCF-7	breast:	n/a	n/a
18	POLR2A	chr13:95996184-95996418	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr13:95998543-95998567	MCF10A-Er-Src	breast:	n/a	n/a
20	RCOR1	chr13:95989381-95989391	K562	blood:	n/a	n/a
21	RCOR1	chr13:95999154-95999334	K562	blood:	n/a	n/a
22	STAT3	chr13:95988058-95988198	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr13:95993697-95993837	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr13:95989500-95989708	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr13:95988110-95988310	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr13:95989398-95989696	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr13:95988113-95988299	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr13:95988078-95988201	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr13:95998936-95998941	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr13:95989514-95989634	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95990065..95992069-chr13:95994982..95997042,2	K562	blood:
2	chr13:95990065..95992069-chr13:95994982..95997042,2	K562	blood:

Variant related genes	Relation type
RNY4P27	TF binding region

Extended variants
information (count: 514 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:514 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145219594	chr13:95986635-95986636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7999791	chr13:95986655-95986656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs377263858	chr13:95986660-95986661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182964899	chr13:95986677-95986678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373635116	chr13:95986691-95986692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564706803	chr13:95986717-95986718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143398184	chr13:95986748-95986749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28406875	chr13:95986767-95986768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61972968	chr13:95986773-95986774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535419536	chr13:95986813-95986814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183545554	chr13:95986833-95986834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs8000155	chr13:95986860-95986861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138401441	chr13:95986882-95986883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532729035	chr13:95986910-95986911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71113917	chr13:95986928-95986929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75099691	chr13:95986972-95986973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376815793	chr13:95986986-95986987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557619038	chr13:95987002-95987003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111706412	chr13:95987015-95987016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8000382	chr13:95987018-95987019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550733854	chr13:95987087-95987088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556219739	chr13:95987099-95987100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569938251	chr13:95987105-95987106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112917495	chr13:95987131-95987132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536395845	chr13:95987172-95987173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566776271	chr13:95987190-95987191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572604149	chr13:95987192-95987193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541720929	chr13:95987194-95987195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553549916	chr13:95987196-95987197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188874900	chr13:95987226-95987227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7998928	chr13:95987234-95987235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs550425938	chr13:95987252-95987253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2992881	chr13:95987282-95987283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs36144329	chr13:95987288-95987289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8000967	chr13:95987290-95987291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7337935	chr13:95987314-95987315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565670973	chr13:95987324-95987325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534572176	chr13:95987356-95987357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12428862	chr13:95987358-95987359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs571236885	chr13:95987359-95987360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373376214	chr13:95987364-95987365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536836015	chr13:95987369-95987370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376489333	chr13:95987388-95987389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552940393	chr13:95987405-95987406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374986364	chr13:95987406-95987407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71113918	chr13:95987421-95987422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137918285	chr13:95987440-95987441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576100459	chr13:95987452-95987453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192462529	chr13:95987476-95987477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35638474	chr13:95987488-95987489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:84)

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
Burkitt''s lymphoma	19759907	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95986600-95993800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:95988000-95988600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:95988400-95988600	Enhancers	Spleen	Spleen
4	chr13:95988400-95989400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr13:95988600-95989200	Weak transcription	Spleen	Spleen
6	chr13:95989000-95989800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:95989000-95990000	Enhancers	Colon Smooth Muscle	Colon
8	chr13:95989200-95989600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr13:95989200-95989800	Enhancers	Spleen	Spleen
10	chr13:95989200-95990000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:95989200-95990200	Enhancers	Ovary	ovary
12	chr13:95989400-95989600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr13:95989600-95989800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr13:95989800-95990000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr13:95989800-95990200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr13:95990000-95990400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr13:95990000-95991600	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:95990400-95996200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:95991200-95993000	Enhancers	Rectal Smooth Muscle	rectum
20	chr13:95991400-95992000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr13:95991600-95993000	Enhancers	Colon Smooth Muscle	Colon
22	chr13:95993000-95994200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:95993800-95994200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:95993800-95994200	Enhancers	Osteobl	bone
25	chr13:95996000-95996800	Enhancers	HUVEC	blood vessel
26	chr13:95996200-95996400	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links