Variant report

Variant	esv3411362
Chromosome Location	chr1:113938903-113939418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113933530..113935652-chr1:113937378..113940053,4	K562	blood:
2	chr1:113939073..113939721-chr1:121484722..121485367,2	MCF-7	breast:
3	chr1:113762744..113764884-chr1:113937680..113940514,2	MCF-7	breast:
4	chr1:113938477..113941904-chr1:113943268..113946445,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3058309	chr1:113938909-113938910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35085131	chr1:113938917-113938918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55905004	chr1:113938941-113938942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570555770	chr1:113938984-113938985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1539411	chr1:113938988-113938989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs556189500	chr1:113939025-113939026	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35871717	chr1:113939052-113939053	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575443283	chr1:113939090-113939091	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191412193	chr1:113939126-113939127	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74553227	chr1:113939258-113939259	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376047876	chr1:113939262-113939263	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574783156	chr1:113939334-113939335	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576420784	chr1:113939358-113939359	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541013332	chr1:113939361-113939362	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138315718	chr1:113939378-113939379	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 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
Pancreatic cancer	17952125	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

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113934800-113945200	Weak transcription	Gastric	stomach
2	chr1:113934800-113945200	Weak transcription	Left Ventricle	heart
3	chr1:113935000-113939000	Weak transcription	HSMM	muscle
4	chr1:113935000-113939200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:113935200-113943200	Weak transcription	HUVEC	blood vessel
6	chr1:113935200-113945400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:113935200-113949400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:113935400-113939000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:113935400-113939200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:113935400-113939600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:113935400-113939800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:113935600-113939000	Weak transcription	Osteobl	bone
13	chr1:113935600-113939200	Weak transcription	NH-A	brain
14	chr1:113935600-113939400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:113935600-113939400	Enhancers	Hela-S3	cervix
16	chr1:113935600-113941400	Weak transcription	Fetal Lung	lung
17	chr1:113935600-113941800	Weak transcription	Ovary	ovary
18	chr1:113935600-113949400	Weak transcription	Aorta	Aorta
19	chr1:113936000-113939200	Weak transcription	NHLF	lung
20	chr1:113936000-113945200	Weak transcription	Right Atrium	heart
21	chr1:113936000-113952400	Weak transcription	Fetal Stomach	stomach
22	chr1:113936200-113941400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:113936600-113939200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:113936800-113939400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:113936800-113945200	Weak transcription	Brain Germinal Matrix	brain
26	chr1:113936800-113945200	Weak transcription	Pancreas	Pancrea
27	chr1:113937000-113939000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:113937200-113948200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:113937400-113939000	Weak transcription	NHDF-Ad	bronchial
30	chr1:113937400-113940000	Weak transcription	Fetal Brain Female	brain
31	chr1:113937400-113940600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:113937400-113941600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:113937600-113939400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:113937600-113939600	Enhancers	HepG2	liver
35	chr1:113937600-113940000	Weak transcription	Fetal Brain Male	brain
36	chr1:113937600-113940000	Weak transcription	Fetal Intestine Large	intestine
37	chr1:113937600-113940800	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:113937600-113945600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:113937600-113947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:113937600-113963400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:113937800-113939000	Enhancers	A549	lung
42	chr1:113937800-113940200	Enhancers	Liver	Liver
43	chr1:113937800-113946400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:113938000-113939200	Weak transcription	Fetal Intestine Small	intestine
45	chr1:113938000-113946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:113938800-113939200	Weak transcription	Stomach Mucosa	stomach
47	chr1:113938800-113940000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr1:113938800-113940000	Enhancers	NHEK	skin
49	chr1:113938800-113940200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:113938800-113940200	Enhancers	HMEC	breast

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