Variant report

Variant	esv3447387
Chromosome Location	chr1:85664874-85665415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85664620..85668785-chr1:85722586..85726821,6	MCF-7	breast:
2	chr1:85665227..85667257-chr1:85740935..85743875,2	K562	blood:
3	chr1:85597874..85599552-chr1:85665218..85666801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142867	chromatin interactions
ENSG00000162642	chromatin interactions
ENSG00000266110	chromatin interactions
ENSG00000223653	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 96 )

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	rs537435634	chr1:85664930-85664931	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111477337	chr1:85664950-85664951	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs113283814	chr1:85664961-85664962	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6656799	chr1:85664965-85664966	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371071123	chr1:85664988-85664989	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193132361	chr1:85664995-85664996	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567740623	chr1:85665005-85665006	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529300862	chr1:85665059-85665060	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79738125	chr1:85665214-85665215	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184768342	chr1:85665235-85665236	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs189146265	chr1:85665319-85665320	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs6668323	chr1:85665325-85665326	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572995648	chr1:85665364-85665365	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs148067725	chr1:85665377-85665378	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs565469689	chr1:85665387-85665388	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
2	chr1:85639000-85665400	Weak transcription	Placenta	Placenta
3	chr1:85646600-85665200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:85648400-85665200	Weak transcription	Ovary	ovary
5	chr1:85648400-85665200	Weak transcription	HSMM	muscle
6	chr1:85649200-85665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:85654000-85665600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:85654400-85665600	Weak transcription	Brain Substantia Nigra	brain
9	chr1:85654400-85665800	Weak transcription	Gastric	stomach
10	chr1:85654400-85665800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:85654800-85665600	Weak transcription	Pancreas	Pancrea
12	chr1:85656000-85665600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:85656200-85665800	Weak transcription	Lung	lung
14	chr1:85656400-85665200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:85656400-85665400	Weak transcription	HSMMtube	muscle
16	chr1:85656400-85665600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:85661000-85669000	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:85661400-85668400	Active TSS	Colon Smooth Muscle	Colon
19	chr1:85661600-85665200	Weak transcription	GM12878-XiMat	blood
20	chr1:85661800-85665600	Weak transcription	Brain Angular Gyrus	brain
21	chr1:85661800-85665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:85662200-85665400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:85662200-85665400	Weak transcription	NHDF-Ad	bronchial
24	chr1:85662200-85665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:85663000-85665800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:85663000-85666200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:85663200-85666200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:85663400-85666000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:85663600-85665200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:85663600-85665800	Active TSS	Rectal Smooth Muscle	rectum
31	chr1:85663600-85666200	Active TSS	Right Ventricle	heart
32	chr1:85663600-85666400	Active TSS	Right Atrium	heart
33	chr1:85663600-85668600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:85663800-85665200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr1:85663800-85665400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:85663800-85665400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:85663800-85665600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:85663800-85667600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:85663800-85667800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:85663800-85667800	Active TSS	K562	blood
41	chr1:85663800-85668000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:85663800-85668200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:85663800-85668200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:85663800-85668600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:85664000-85665200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:85664000-85665600	Active TSS	Fetal Lung	lung
47	chr1:85664000-85667800	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:85664000-85668200	Active TSS	Fetal Intestine Large	intestine
49	chr1:85664200-85665000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:85664200-85665200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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