Variant report

Variant	esv3410550
Chromosome Location	chr13:30598652-30602150
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	CEBPB	chr13:30602053-30602522	IMR90	lung:	n/a	n/a
2	CEBPB	chr13:30600332-30600578	IMR90	lung:	n/a	n/a
3	CTCF	chr13:30599892-30599943	Kidney_OC	kidney:	n/a	n/a
4	FOS	chr13:30601736-30602381	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr13:30600263-30600681	HUVEC	blood vessel:	n/a	chr13:30600418-30600429
6	FOXA1	chr13:30601587-30601920	HepG2	liver:	n/a	n/a
7	FOXA2	chr13:30601036-30601248	HepG2	liver:	n/a	n/a
8	MAX	chr13:30600248-30600583	SK-N-SH	brain:	n/a	n/a
9	MAZ	chr13:30600792-30600906	HepG2	liver:	n/a	n/a
10	MXI1	chr13:30599591-30601296	IMR90	lung:	n/a	n/a
11	MYC	chr13:30600322-30600484	HUVEC	blood vessel:	n/a	n/a
12	NFIC	chr13:30600162-30600698	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr13:30602083-30602215	GM12878	blood:	n/a	n/a
14	RAD21	chr13:30600179-30600663	IMR90	lung:	n/a	chr13:30600239-30600253
15	STAT3	chr13:30600621-30600630	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000266505	TF binding region

Extended variants
information (count: 160 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533928524	chr13:30598688-30598689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547610965	chr13:30598758-30598759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531287572	chr13:30598781-30598782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369017805	chr13:30598783-30598784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149857838	chr13:30598788-30598789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73161517	chr13:30598799-30598800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145880089	chr13:30598807-30598808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575917593	chr13:30598808-30598809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538163600	chr13:30598817-30598818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116765399	chr13:30598820-30598821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187181543	chr13:30598821-30598822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140655960	chr13:30598866-30598867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560508867	chr13:30598884-30598885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574110973	chr13:30598910-30598911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542728659	chr13:30598918-30598919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565141128	chr13:30598933-30598934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550981572	chr13:30598937-30598938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112644697	chr13:30598957-30598958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532432082	chr13:30598958-30598959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145836688	chr13:30598984-30598985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565227028	chr13:30599016-30599017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527575468	chr13:30599018-30599019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547605429	chr13:30599019-30599020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547698342	chr13:30599047-30599048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191990373	chr13:30599063-30599064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117349703	chr13:30599081-30599082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569643086	chr13:30599082-30599083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538197897	chr13:30599090-30599091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558123895	chr13:30599141-30599142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146452784	chr13:30599156-30599157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534204234	chr13:30599157-30599158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567698220	chr13:30599192-30599193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554368500	chr13:30599201-30599202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536261667	chr13:30599206-30599207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543120177	chr13:30599211-30599212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556337998	chr13:30599239-30599240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529938437	chr13:30599264-30599265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576608326	chr13:30599279-30599280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545460115	chr13:30599285-30599286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565264752	chr13:30599310-30599311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564900227	chr13:30599374-30599375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183081015	chr13:30599398-30599399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540939770	chr13:30599400-30599401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561151869	chr13:30599418-30599419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529809884	chr13:30599436-30599437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549850761	chr13:30599444-30599445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569456809	chr13:30599489-30599490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376532679	chr13:30599495-30599496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551788434	chr13:30599504-30599505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140904958	chr13:30599507-30599508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30592000-30599400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30592200-30600600	Weak transcription	Right Atrium	heart
3	chr13:30593000-30599000	Weak transcription	Brain Anterior Caudate	brain
4	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:30593800-30600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:30594400-30598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:30594400-30599000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr13:30594600-30599200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:30595400-30599600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:30595600-30599200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:30595800-30599200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:30595800-30599400	Weak transcription	NHLF	lung
14	chr13:30595800-30600000	Weak transcription	HSMM	muscle
15	chr13:30596000-30599400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:30596000-30600000	Weak transcription	HSMMtube	muscle
17	chr13:30596200-30599400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:30596400-30599000	Enhancers	Placenta	Placenta
19	chr13:30596400-30599200	Weak transcription	Osteobl	bone
20	chr13:30597200-30599200	Weak transcription	NHDF-Ad	bronchial
21	chr13:30597600-30600600	Weak transcription	Fetal Intestine Large	intestine
22	chr13:30598200-30600400	Weak transcription	HepG2	liver
23	chr13:30598200-30600600	Weak transcription	Fetal Intestine Small	intestine
24	chr13:30598600-30601000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:30598600-30605000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:30598800-30599000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:30598800-30599000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:30599000-30599800	Enhancers	Brain Anterior Caudate	brain
29	chr13:30599000-30600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:30599200-30599600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr13:30599200-30600800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:30599200-30602800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:30599200-30602800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:30599200-30602800	Enhancers	NHDF-Ad	bronchial
35	chr13:30599200-30602800	Enhancers	Osteobl	bone
36	chr13:30599400-30600800	Enhancers	NHLF	lung
37	chr13:30599400-30601200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:30599400-30602600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr13:30599600-30599800	Enhancers	Spleen	Spleen
40	chr13:30599600-30600800	Enhancers	Adipose Nuclei	Adipose
41	chr13:30599600-30601000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:30599800-30611600	Weak transcription	Fetal Brain Male	brain
43	chr13:30600000-30600800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:30600000-30600800	Enhancers	HSMM	muscle
45	chr13:30600000-30600800	Enhancers	HSMMtube	muscle
46	chr13:30600000-30600800	Enhancers	NH-A	brain
47	chr13:30600200-30600800	Enhancers	HUVEC	blood vessel
48	chr13:30600400-30602600	Enhancers	HepG2	liver
49	chr13:30600600-30601800	Enhancers	Fetal Intestine Small	intestine
50	chr13:30600600-30602000	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links