Variant report

Variant	esv3336014
Chromosome Location	chr1:62181364-62183262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62181029..62182922-chr1:62208198..62209826,2	MCF-7	breast:
2	chr1:62078897..62080421-chr1:62179528..62181828,2	K562	blood:
3	chr1:62179938..62181862-chr1:62184644..62186365,2	K562	blood:
4	chr1:62181809..62185712-chr1:62189525..62191366,3	K562	blood:
5	chr1:62172595..62175082-chr1:62181867..62184619,2	K562	blood:

Variant related genes	Relation type
ENSG00000162604	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115087383	chr1:62181369-62181370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375426219	chr1:62181374-62181375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370733763	chr1:62181412-62181413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190779867	chr1:62181429-62181430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148394419	chr1:62181444-62181445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79963497	chr1:62181463-62181464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370098461	chr1:62181497-62181498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12748618	chr1:62181504-62181505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12748202	chr1:62181513-62181514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12730231	chr1:62181521-62181522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112568169	chr1:62181534-62181535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545348235	chr1:62181536-62181537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12748762	chr1:62181537-62181538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369798636	chr1:62181558-62181559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12748346	chr1:62181560-62181561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12748349	chr1:62181567-62181568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113580203	chr1:62181606-62181607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12730357	chr1:62181618-62181619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12748500	chr1:62181635-62181636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181530233	chr1:62181637-62181638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542715253	chr1:62181742-62181743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561040350	chr1:62181743-62181744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370620346	chr1:62181769-62181770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185960656	chr1:62181802-62181803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530179788	chr1:62181832-62181833	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189924229	chr1:62181864-62181865	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181233334	chr1:62181883-62181884	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533273611	chr1:62181884-62181885	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72925687	chr1:62181909-62181910	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113550154	chr1:62181941-62181942	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533767888	chr1:62181978-62181979	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549142254	chr1:62181997-62181998	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1620169	chr1:62182011-62182012	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1692131	chr1:62182024-62182025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111639444	chr1:62182039-62182040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4915773	chr1:62182055-62182056	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112527748	chr1:62182056-62182057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548369790	chr1:62182090-62182091	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs578083763	chr1:62182105-62182106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs539326512	chr1:62182110-62182111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553995774	chr1:62182112-62182113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1692132	chr1:62182133-62182134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542602667	chr1:62182137-62182138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561079333	chr1:62182160-62182161	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111967853	chr1:62182161-62182162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543518986	chr1:62182244-62182245	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562714434	chr1:62182251-62182252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs56776117	chr1:62182252-62182253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536836179	chr1:62182253-62182254	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141054737	chr1:62182258-62182259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:62140000-62189000	Weak transcription	NHLF	lung
3	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:62158600-62189800	Weak transcription	Pancreas	Pancrea
6	chr1:62163400-62181800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:62165000-62189800	Weak transcription	Aorta	Aorta
8	chr1:62165400-62189400	Weak transcription	Fetal Brain Male	brain
9	chr1:62165400-62189600	Weak transcription	Right Ventricle	heart
10	chr1:62165400-62189800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:62166400-62189400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:62166600-62187400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:62166600-62189400	Weak transcription	A549	lung
14	chr1:62166800-62189400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:62171600-62188400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:62172000-62189400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:62172000-62189800	Weak transcription	Gastric	stomach
18	chr1:62173000-62184000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:62173200-62189600	Weak transcription	Colonic Mucosa	Colon
20	chr1:62174000-62189600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:62174200-62189000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:62174400-62188800	Weak transcription	Brain Germinal Matrix	brain
23	chr1:62174400-62189800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:62174400-62189800	Weak transcription	Esophagus	oesophagus
25	chr1:62174600-62184800	Weak transcription	HUVEC	blood vessel
26	chr1:62174600-62189200	Weak transcription	HepG2	liver
27	chr1:62174600-62190200	Weak transcription	Small Intestine	intestine
28	chr1:62174800-62182600	Weak transcription	NHEK	skin
29	chr1:62174800-62189200	Weak transcription	Fetal Brain Female	brain
30	chr1:62174800-62189400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:62174800-62189600	Weak transcription	Primary B cells from cord blood	blood
32	chr1:62174800-62189600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:62174800-62189600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:62174800-62189600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:62174800-62189600	Weak transcription	Left Ventricle	heart
36	chr1:62174800-62189600	Weak transcription	Osteobl	bone
37	chr1:62174800-62189800	Weak transcription	Lung	lung
38	chr1:62174800-62189800	Weak transcription	HSMMtube	muscle
39	chr1:62174800-62190000	Weak transcription	Ovary	ovary
40	chr1:62174800-62190400	Weak transcription	Spleen	Spleen
41	chr1:62175000-62183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:62175000-62187600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:62175000-62188400	Weak transcription	Brain Anterior Caudate	brain
44	chr1:62175000-62188800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:62175000-62189200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:62175000-62189400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:62175000-62189400	Weak transcription	Fetal Kidney	kidney
48	chr1:62175000-62189600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:62175000-62189800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:62175000-62189800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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