Variant report

Variant	esv3403110
Chromosome Location	chr1:46988614-46988778
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46981951..46984222-chr1:46986722..46989512,3	MCF-7	breast:
2	chr1:46913874..46916850-chr1:46987729..46989869,4	K562	blood:
3	chr1:46916965..46919039-chr1:46986661..46989583,2	K562	blood:
4	chr1:46986798..46990832-chr1:46991693..46995331,8	K562	blood:
5	chr1:46985009..46990560-chr1:46990823..46993646,5	K562	blood:
6	chr1:46919084..46921023-chr1:46985929..46988838,3	K562	blood:
7	chr1:46945138..46947370-chr1:46988064..46989764,2	K562	blood:
8	chr1:46950640..46959255-chr1:46986389..46991936,15	K562	blood:
9	chr1:46971533..46973952-chr1:46986776..46988731,3	K562	blood:
10	chr1:46908155..46911848-chr1:46987375..46989961,4	K562	blood:
11	chr1:46945870..46948145-chr1:46988064..46989957,2	K562	blood:
12	chr1:46874023..46875964-chr1:46987964..46989966,2	MCF-7	breast:
13	chr1:46954395..46956906-chr1:46986850..46988638,2	MCF-7	breast:
14	chr1:46985914..46991197-chr1:46993744..46997835,5	K562	blood:
15	chr1:46908155..46911848-chr1:46987375..46989663,3	K562	blood:
16	chr1:46907848..46908563-chr1:46988064..46988933,2	K562	blood:
17	chr1:46975501..46977043-chr1:46987288..46989781,2	K562	blood:
18	chr1:46943210..46943796-chr1:46988470..46989208,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117480	chromatin interactions
ENSG00000224863	chromatin interactions
ENSG00000197587	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371607127	chr1:46988616-46988617	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs200980315	chr1:46988626-46988627	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs544578440	chr1:46988629-46988630	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs563240338	chr1:46988633-46988634	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs183838104	chr1:46988679-46988680	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542051583	chr1:46988703-46988704	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560626390	chr1:46988704-46988705	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs116934573	chr1:46988708-46988709	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs139556435	chr1:46988710-46988711	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs375781470	chr1:46988738-46988739	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544661280	chr1:46988743-46988744	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187554805	chr1:46988748-46988749	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190933189	chr1:46988756-46988757	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550592107	chr1:46988775-46988776	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	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
Melanoma	17363583	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
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46983200-46989800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:46985000-46990200	Enhancers	HMEC	breast
3	chr1:46985800-46989800	Enhancers	Adipose Nuclei	Adipose
4	chr1:46986400-46988800	Enhancers	HSMM	muscle
5	chr1:46986600-46988800	Enhancers	NH-A	brain
6	chr1:46986600-46989000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:46986600-46989000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:46986600-46990000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:46986600-46991200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:46986800-46989600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:46987000-46988800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr1:46987200-46988800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr1:46987200-46989000	Enhancers	GM12878-XiMat	blood
14	chr1:46987200-46989800	Flanking Active TSS	K562	blood
15	chr1:46987200-46990600	Enhancers	Esophagus	oesophagus
16	chr1:46987400-46988800	Enhancers	NHDF-Ad	bronchial
17	chr1:46987400-46990200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:46987600-46988800	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:46987600-46989200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:46987600-46990400	Enhancers	Stomach Mucosa	stomach
21	chr1:46987800-46988800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr1:46987800-46988800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr1:46987800-46988800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:46987800-46988800	Enhancers	Liver	Liver
25	chr1:46987800-46988800	Flanking Active TSS	Hela-S3	cervix
26	chr1:46987800-46989000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr1:46987800-46989000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:46987800-46989000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr1:46987800-46989000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr1:46987800-46989000	Enhancers	Fetal Lung	lung
31	chr1:46987800-46989000	Enhancers	Gastric	stomach
32	chr1:46987800-46989000	Enhancers	Pancreas	Pancrea
33	chr1:46987800-46990000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:46987800-46990000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:46987800-46991000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:46987800-46993800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:46988000-46988800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:46988000-46988800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:46988000-46988800	Enhancers	Brain Hippocampus Middle	brain
40	chr1:46988000-46988800	Enhancers	Right Ventricle	heart
41	chr1:46988000-46989000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:46988000-46989400	Bivalent Enhancer	Placenta	Placenta
43	chr1:46988200-46988800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:46988200-46988800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:46988200-46988800	Enhancers	Brain Angular Gyrus	brain
46	chr1:46988200-46988800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr1:46988200-46989000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:46988200-46989000	Enhancers	Ovary	ovary
49	chr1:46988200-46989200	Genic enhancers	Right Atrium	heart
50	chr1:46988400-46988800	Enhancers	Brain Cingulate Gyrus	brain

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