Variant report

Variant	esv3444669
Chromosome Location	chr1:113995959-114038884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113996993..113999884-chr3:64478745..64481492,2	MCF-7	breast:
2	chr1:113995710..113997522-chr1:113998226..113999728,2	MCF-7	breast:
3	chr1:113761686..113762754-chr1:113995460..113996204,3	MCF-7	breast:
4	chr1:114006147..114008753-chr1:114011826..114013643,2	MCF-7	breast:
5	chr1:114006147..114008753-chr1:114011826..114013643,2	MCF-7	breast:
6	chr1:113931751..113937304-chr1:113991927..113997733,10	MCF-7	breast:
7	chr1:113948129..113949831-chr1:113997771..113999315,2	MCF-7	breast:
8	chr1:113946741..113949404-chr1:114031617..114034650,3	K562	blood:
9	chr1:113992312..113994525-chr1:113996440..113998587,2	K562	blood:
10	chr1:113720795..113722633-chr1:114015124..114017356,2	K562	blood:
11	chr1:114005229..114005823-chr17:46702092..46702703,2	NB4	blood:
12	chr1:113995710..113997522-chr1:113998226..113999728,2	MCF-7	breast:
13	chr1:113995191..113995964-chr1:114220394..114221133,3	MCF-7	breast:
14	chr1:114029977..114031594-chr1:114300598..114302176,2	MCF-7	breast:
15	chr1:114038568..114040595-chr17:56708009..56710342,2	MCF-7	breast:
16	chr1:109616898..109618683-chr1:113996110..113997630,2	MCF-7	breast:
17	chr1:114031096..114032142-chr1:114220498..114221187,4	MCF-7	breast:
18	chr1:113933924..113934739-chr1:113995326..113996059,2	MCF-7	breast:
19	chr1:113930963..113934171-chr1:113998059..114001366,6	MCF-7	breast:
20	chr1:113928980..113930931-chr1:113997555..113999935,2	MCF-7	breast:
21	chr1:113682819..113684058-chr1:113995303..113996916,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions
ENSG00000197780	chromatin interactions
ENSG00000081026	chromatin interactions
ENSG00000232499	chromatin interactions
ENSG00000116793	chromatin interactions

Extended variants
information (count: 1411 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:1411 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183969828	chr1:113995983-113995984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542813489	chr1:113996009-113996010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559478130	chr1:113996053-113996054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528801343	chr1:113996065-113996066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72997061	chr1:113996076-113996077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115345721	chr1:113996144-113996145	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35081109	chr1:113996172-113996173	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190919975	chr1:113996224-113996225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550666058	chr1:113996292-113996293	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567784136	chr1:113996300-113996301	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144394268	chr1:113996314-113996315	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146912706	chr1:113996443-113996444	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374115902	chr1:113996449-113996450	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs182269781	chr1:113996474-113996475	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12061702	chr1:113996513-113996514	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs56163245	chr1:113996523-113996524	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs563703454	chr1:113996556-113996557	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs538582943	chr1:113996568-113996569	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs558799823	chr1:113996586-113996587	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575411565	chr1:113996615-113996616	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs112654748	chr1:113996650-113996651	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs531227389	chr1:113996652-113996653	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs75170392	chr1:113996677-113996678	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs187343459	chr1:113996768-113996769	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs12045559	chr1:113996866-113996867	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561803945	chr1:113996880-113996881	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs77690587	chr1:113996907-113996908	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs539932284	chr1:113996937-113996938	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs12739961	chr1:113996947-113996948	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs573082699	chr1:113996958-113996959	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs191801049	chr1:113997103-113997104	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs565588025	chr1:113997108-113997109	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs569823140	chr1:113997177-113997178	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs184013346	chr1:113997292-113997293	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs377019598	chr1:113997305-113997306	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs547564556	chr1:113997330-113997331	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs188449010	chr1:113997360-113997361	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs368352574	chr1:113997363-113997364	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs112111789	chr1:113997364-113997365	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs373329604	chr1:113997417-113997418	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530263917	chr1:113997463-113997464	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs79907807	chr1:113997470-113997471	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs12046450	chr1:113997472-113997473	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193060281	chr1:113997498-113997499	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs74111276	chr1:113997501-113997502	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569135824	chr1:113997516-113997517	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs185680278	chr1:113997607-113997608	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs190590413	chr1:113997610-113997611	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs11102638	chr1:113997686-113997687	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs556632230	chr1:113997712-113997713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113985000-113999000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:113987800-113996000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113994200-113996400	Enhancers	HUVEC	blood vessel
4	chr1:113994400-113996600	Enhancers	Liver	Liver
5	chr1:113994400-113996600	Enhancers	A549	lung
6	chr1:113994600-113996600	Enhancers	Small Intestine	intestine
7	chr1:113994800-114004400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:113995000-113996000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:113995000-113996000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:113995000-113996200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:113995000-113996200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:113995000-113996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:113995000-113996200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:113995400-113996200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:113995400-113996600	Enhancers	Hela-S3	cervix
16	chr1:113995400-113998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:113995400-113999000	Weak transcription	Stomach Mucosa	stomach
18	chr1:113995400-113999800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:113995600-113996400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:113995600-113996400	Enhancers	Fetal Lung	lung
21	chr1:113995600-113996600	Enhancers	Adipose Nuclei	Adipose
22	chr1:113995600-113999200	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:113995600-113999600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:113995600-114002400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:113995600-114003200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:113995800-113996200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:113995800-113996600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:113995800-113996600	Enhancers	Fetal Heart	heart
29	chr1:113995800-113999200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:113996000-113996600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:113996200-113996400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:113996200-113996400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:113996200-113996400	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:113996200-113996400	Enhancers	Gastric	stomach
35	chr1:113996200-113996400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:113996200-113996600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:113996200-113996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:113996200-113996600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr1:113996200-113997000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:113996400-113996600	Weak transcription	Gastric	stomach
41	chr1:113996400-113997800	Weak transcription	HUVEC	blood vessel
42	chr1:113996400-113999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:113996400-113999000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:113996600-113997600	Weak transcription	A549	lung
45	chr1:113996600-113998200	Weak transcription	Hela-S3	cervix
46	chr1:113996600-113999000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:113996600-113999000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:113996600-113999000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:113996600-113999400	Weak transcription	Liver	Liver
50	chr1:113996600-114001200	Weak transcription	Small Intestine	intestine

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