Variant report

Variant	esv3487874
Chromosome Location	chr1:62081664-62084862
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546947753	chr1:62081676-62081677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2047277	chr1:62081694-62081695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535910659	chr1:62081695-62081696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562125989	chr1:62081742-62081743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547867049	chr1:62081750-62081751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143052670	chr1:62081777-62081778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564598785	chr1:62081778-62081779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368908121	chr1:62081841-62081842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188160473	chr1:62081862-62081863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559030703	chr1:62081874-62081875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571087815	chr1:62081887-62081888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572476544	chr1:62081891-62081892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192688140	chr1:62081921-62081922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535017089	chr1:62081930-62081931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146156553	chr1:62081965-62081966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6672217	chr1:62081981-62081982	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542374822	chr1:62081997-62081998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373940056	chr1:62082028-62082029	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs557405174	chr1:62082039-62082040	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs112918451	chr1:62082067-62082068	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs541412103	chr1:62082073-62082074	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs576202271	chr1:62082079-62082080	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs12736767	chr1:62082106-62082107	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs71814653	chr1:62082107-62082108	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs374959736	chr1:62082147-62082148	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs34810505	chr1:62082158-62082159	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs532329660	chr1:62082159-62082160	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs71050138	chr1:62082160-62082161	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs6687792	chr1:62082162-62082163	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs6699079	chr1:62082189-62082190	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs367895225	chr1:62082242-62082243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142416958	chr1:62082308-62082309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6675169	chr1:62082312-62082313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529621340	chr1:62082333-62082334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548028962	chr1:62082388-62082389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569724698	chr1:62082440-62082441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150842241	chr1:62082486-62082487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376744631	chr1:62082514-62082515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183739563	chr1:62082522-62082523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571077252	chr1:62082535-62082536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535298378	chr1:62082612-62082613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7529815	chr1:62082629-62082630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189236569	chr1:62082699-62082700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57796953	chr1:62082723-62082724	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs139298584	chr1:62082734-62082735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112049584	chr1:62082758-62082759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184223498	chr1:62082796-62082797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7530003	chr1:62082800-62082801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs576612910	chr1:62082808-62082809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540956678	chr1:62082835-62082836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62073200-62081800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:62073200-62084400	Weak transcription	Esophagus	oesophagus
3	chr1:62073200-62086400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:62073200-62098800	Weak transcription	Right Atrium	heart
5	chr1:62073400-62084200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:62074200-62081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:62074200-62082200	Weak transcription	NHEK	skin
8	chr1:62078600-62082200	Weak transcription	HSMMtube	muscle
9	chr1:62079200-62086000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:62080400-62086000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:62080400-62086000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:62080600-62084400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:62081800-62082800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:62081800-62082800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:62081800-62083000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:62082000-62082200	Bivalent Enhancer	Placenta	Placenta
17	chr1:62082200-62082400	Enhancers	Aorta	Aorta
18	chr1:62082200-62082600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:62082200-62082600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:62082200-62082800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:62082200-62082800	Enhancers	Placenta	Placenta
22	chr1:62082200-62082800	Enhancers	HSMMtube	muscle
23	chr1:62082200-62082800	Enhancers	NHEK	skin
24	chr1:62082200-62083000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:62082400-62082600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:62082400-62082800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr1:62082400-62082800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:62082400-62082800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:62082400-62082800	Enhancers	HMEC	breast
30	chr1:62082400-62082800	Enhancers	NHDF-Ad	bronchial
31	chr1:62082400-62083200	Weak transcription	Aorta	Aorta
32	chr1:62082800-62083800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:62082800-62084000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:62082800-62084200	Weak transcription	NHEK	skin
35	chr1:62082800-62084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:62082800-62084400	Weak transcription	HMEC	breast
37	chr1:62083000-62084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:62083000-62084200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:62083800-62084800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:62084000-62084800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:62084000-62084800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:62084000-62084800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:62084200-62084600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:62084200-62084800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:62084200-62085000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:62084200-62085000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:62084200-62085000	Enhancers	NHEK	skin
48	chr1:62084200-62085200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:62084400-62084600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:62084400-62084600	Enhancers	HUES6 Cell Line	embryonic stem cell

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