Variant report

Variant	esv990846
Chromosome Location	chr1:113573220-113576139
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	ATF2	chr1:113573830-113574299	GM12878	blood:	n/a	n/a
2	ATF2	chr1:113573751-113574402	GM12878	blood:	n/a	n/a
3	BATF	chr1:113573902-113574220	GM12878	blood:	n/a	n/a
4	BATF	chr1:113573777-113574227	GM12878	blood:	n/a	n/a
5	BCL11A	chr1:113573841-113574245	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:113573947-113574172	GM12878	blood:	n/a	n/a
7	BCL3	chr1:113573837-113574287	GM12878	blood:	n/a	n/a
8	BCLAF1	chr1:113573824-113574234	GM12878	blood:	n/a	n/a
9	CEBPB	chr1:113573763-113574379	GM12878	blood:	n/a	n/a
10	CUX1	chr1:113573884-113574312	GM12878	blood:	n/a	n/a
11	EBF1	chr1:113573953-113574252	GM12878	blood:	n/a	n/a
12	EP300	chr1:113573870-113574282	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
13	EP300	chr1:113573915-113574268	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
14	EP300	chr1:113573901-113574320	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
15	EP300	chr1:113573981-113574261	GM12878	blood:	n/a	chr1:113574077-113574084 chr1:113574037-113574046
16	FOXM1	chr1:113573698-113574385	GM12878	blood:	n/a	n/a
17	FOXM1	chr1:113573777-113574393	GM12878	blood:	n/a	n/a
18	IKZF1	chr1:113573689-113574230	GM12878	blood:	n/a	n/a
19	IRF4	chr1:113573813-113574193	GM12878	blood:	n/a	n/a
20	IRF4	chr1:113573752-113574389	GM12878	blood:	n/a	n/a
21	JUND	chr1:113573535-113574432	GM12878	blood:	n/a	n/a
22	JUND	chr1:113573916-113574286	GM12878	blood:	n/a	n/a
23	MAFK	chr1:113574942-113575035	HepG2	liver:	n/a	chr1:113575004-113575018
24	MAZ	chr1:113573823-113574200	GM12878	blood:	n/a	n/a
25	MEF2A	chr1:113573820-113574377	GM12878	blood:	n/a	n/a
26	MTA3	chr1:113573694-113574298	GM12878	blood:	n/a	n/a
27	MTA3	chr1:113573823-113574306	GM12878	blood:	n/a	n/a
28	NFATC1	chr1:113573824-113574352	GM12878	blood:	n/a	n/a
29	NFATC1	chr1:113573714-113574425	GM12878	blood:	n/a	n/a
30	NFIC	chr1:113573852-113574363	GM12878	blood:	n/a	n/a
31	NFIC	chr1:113573663-113574451	GM12878	blood:	n/a	n/a
32	NFYB	chr1:113573813-113574352	GM12878	blood:	n/a	n/a
33	PML	chr1:113573936-113574230	GM12878	blood:	n/a	n/a
34	PML	chr1:113573727-113574368	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:113573722-113574334	GM12892	blood:	n/a	n/a
36	POLR2A	chr1:113573731-113574028	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:113573816-113574237	GM12891	blood:	n/a	n/a
38	POLR2A	chr1:113573818-113574005	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr1:113573339-113573722	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr1:113573783-113574014	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr1:113573948-113574209	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr1:113574081-113574097	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:113575546-113575733	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr1:113574674-113574920	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr1:113574383-113574404	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr1:113573660-113573760	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:113573269-113573634	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:113573591-113573630	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:113573082-113573256	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:113575676-113575681	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113570114..113572755-chr1:113573147..113575592,2	K562	blood:
2	chr1:113572393..113574061-chr1:113600793..113602856,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236066	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11102573	chr1:113573223-113573224	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9787311	chr1:113573332-113573333	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78557244	chr1:113573349-113573350	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs199641378	chr1:113573350-113573351	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147269082	chr1:113573369-113573370	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs182788307	chr1:113573398-113573399	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542748482	chr1:113573424-113573425	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552802780	chr1:113573458-113573459	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572555447	chr1:113573501-113573502	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188260014	chr1:113573504-113573505	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564738124	chr1:113573510-113573511	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113098965	chr1:113573592-113573593	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375971270	chr1:113573674-113573675	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183687108	chr1:113573697-113573698	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563721589	chr1:113573759-113573760	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529357093	chr1:113573768-113573769	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549413495	chr1:113573787-113573788	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12143341	chr1:113573797-113573798	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528259026	chr1:113573798-113573799	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75675436	chr1:113573826-113573827	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs17030888	chr1:113573838-113573839	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1216772	chr1:113573874-113573875	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374783315	chr1:113573888-113573889	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs12406894	chr1:113573889-113573890	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs79017759	chr1:113573907-113573908	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs566882122	chr1:113573910-113573911	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370158850	chr1:113573930-113573931	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs553006219	chr1:113573934-113573935	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs572868287	chr1:113573952-113573953	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs111444573	chr1:113573986-113573987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs541599346	chr1:113573989-113573990	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs11102574	chr1:113574019-113574020	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs77383015	chr1:113574032-113574033	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs578250020	chr1:113574079-113574080	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562446154	chr1:113574103-113574104	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544171782	chr1:113574126-113574127	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs540898476	chr1:113574150-113574151	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs55816620	chr1:113574192-113574193	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563978393	chr1:113574303-113574304	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188255585	chr1:113574304-113574305	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556042889	chr1:113574348-113574349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113138595	chr1:113574351-113574352	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192553959	chr1:113574396-113574397	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs528611420	chr1:113574476-113574477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184634676	chr1:113574481-113574482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12184272	chr1:113574498-113574499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530628066	chr1:113574678-113574679	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs186750380	chr1:113574732-113574733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567472905	chr1:113574749-113574750	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs369517687	chr1:113574769-113574770	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113541000-113573800	Weak transcription	Right Ventricle	heart
2	chr1:113543200-113574400	Weak transcription	HSMM	muscle
3	chr1:113555600-113584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:113562400-113574000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:113564600-113577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:113564600-113577600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:113564800-113579400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:113564800-113583000	Weak transcription	Stomach Mucosa	stomach
9	chr1:113570200-113573600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:113570200-113575000	Enhancers	Liver	Liver
11	chr1:113570400-113579400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:113570600-113575200	Enhancers	HepG2	liver
13	chr1:113571000-113574400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:113571200-113579600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:113571400-113579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:113571600-113579400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:113571600-113584000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:113572000-113579400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:113572200-113573400	Enhancers	Left Ventricle	heart
20	chr1:113572400-113574200	Enhancers	Fetal Heart	heart
21	chr1:113572600-113574800	Enhancers	GM12878-XiMat	blood
22	chr1:113572600-113579200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:113572600-113579200	Weak transcription	Thymus	Thymus
24	chr1:113572600-113584600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:113573200-113573400	Enhancers	Fetal Intestine Small	intestine
26	chr1:113573200-113573800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:113573200-113574400	Enhancers	HUVEC	blood vessel
28	chr1:113573400-113573600	Weak transcription	Left Ventricle	heart
29	chr1:113573400-113573800	Weak transcription	Fetal Intestine Small	intestine
30	chr1:113573600-113573800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:113573600-113573800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:113573600-113574000	Enhancers	Left Ventricle	heart
33	chr1:113573800-113574000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:113573800-113574000	Enhancers	Fetal Intestine Small	intestine
35	chr1:113573800-113574000	Enhancers	Right Ventricle	heart
36	chr1:113573800-113577600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:113573800-113584200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:113574000-113574200	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:113574000-113577800	Weak transcription	Left Ventricle	heart
40	chr1:113574000-113582200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:113574400-113574600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:113574800-113579200	Weak transcription	GM12878-XiMat	blood
43	chr1:113575200-113579400	Weak transcription	HepG2	liver

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