Variant report

Variant	esv3441819
Chromosome Location	chr1:63274314-63276312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:63275626..63278892-chr1:63281499..63283482,3	K562	blood:
2	chr1:63271308..63273102-chr1:63273879..63275805,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78006569	chr1:63274449-63274450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369083828	chr1:63274452-63274453	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77346818	chr1:63274463-63274464	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542157931	chr1:63274477-63274478	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563529023	chr1:63274490-63274491	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374748121	chr1:63274501-63274502	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11208035	chr1:63274538-63274539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs564594750	chr1:63274539-63274540	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180963744	chr1:63274551-63274552	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547228122	chr1:63274553-63274554	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141075757	chr1:63274557-63274558	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79978322	chr1:63274565-63274566	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551298852	chr1:63274603-63274604	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147655722	chr1:63274605-63274606	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555586960	chr1:63274657-63274658	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535907234	chr1:63274667-63274668	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568746790	chr1:63274673-63274674	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150303251	chr1:63274761-63274762	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545334254	chr1:63274762-63274763	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74409200	chr1:63274829-63274830	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs117651658	chr1:63274830-63274831	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs201594254	chr1:63274869-63274870	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533696636	chr1:63274889-63274890	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs555143287	chr1:63274899-63274900	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138926710	chr1:63274938-63274939	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544167537	chr1:63275041-63275042	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575793795	chr1:63275058-63275059	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556451781	chr1:63275080-63275081	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533995267	chr1:63275090-63275091	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376724482	chr1:63275140-63275141	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575523628	chr1:63275141-63275142	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200182665	chr1:63275152-63275153	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111692175	chr1:63275153-63275154	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114190274	chr1:63275154-63275155	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528600689	chr1:63275289-63275290	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111744537	chr1:63275310-63275311	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540013413	chr1:63275314-63275315	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540777511	chr1:63275353-63275354	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565488233	chr1:63275397-63275398	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577975791	chr1:63275401-63275402	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374639336	chr1:63275449-63275450	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs57293753	chr1:63275514-63275515	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149440657	chr1:63275531-63275532	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550969281	chr1:63275539-63275540	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143753257	chr1:63275550-63275551	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545346002	chr1:63275578-63275579	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138452959	chr1:63275644-63275645	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550971713	chr1:63275710-63275711	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184548011	chr1:63275711-63275712	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566180019	chr1:63275756-63275757	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63250800-63319000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:63251000-63274800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:63251000-63296000	Weak transcription	Fetal Thymus	thymus
4	chr1:63251000-63317800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:63251000-63327400	Weak transcription	Fetal Stomach	stomach
6	chr1:63251200-63327400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:63251400-63275600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:63252000-63284400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:63257400-63293400	Weak transcription	Brain Anterior Caudate	brain
10	chr1:63261600-63326400	Weak transcription	Placenta	Placenta
11	chr1:63262800-63276000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:63262800-63293000	Weak transcription	Brain Substantia Nigra	brain
13	chr1:63263400-63274800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:63264800-63282800	Weak transcription	Left Ventricle	heart
15	chr1:63266200-63276200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:63266800-63284600	Weak transcription	Fetal Kidney	kidney
17	chr1:63267000-63274600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:63267000-63276000	Weak transcription	Fetal Lung	lung
19	chr1:63267000-63279800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:63267200-63274400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:63267200-63275800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:63267200-63327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:63267200-63327400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:63267400-63276000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:63267400-63283400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:63267600-63287200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:63268000-63278800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:63268400-63297000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:63268600-63276600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:63268600-63319600	Weak transcription	Liver	Liver
31	chr1:63268800-63276000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:63268800-63276000	Weak transcription	Adipose Nuclei	Adipose
33	chr1:63268800-63317600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:63269200-63317400	Weak transcription	Dnd41	blood
35	chr1:63269400-63274600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:63269600-63309600	Weak transcription	Brain Angular Gyrus	brain
37	chr1:63270000-63286000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:63270200-63274400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr1:63270200-63287400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:63270400-63274400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:63270400-63274400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:63270400-63277200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:63270400-63331400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:63270800-63275600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:63271400-63276000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:63271400-63324400	Weak transcription	Pancreas	Pancrea
47	chr1:63271600-63326800	Weak transcription	Aorta	Aorta
48	chr1:63271600-63327400	Weak transcription	Thymus	Thymus
49	chr1:63271800-63324000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:63272400-63282200	Weak transcription	Fetal Heart	heart

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