Variant report

Variant	esv3438149
Chromosome Location	chr1:59194264-59197912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59196730..59199311-chr1:59246080..59248881,2	K562	blood:
2	chr1:59194152..59196031-chr1:59196369..59198347,2	MCF-7	breast:
3	chr1:59191433..59194290-chr1:59244978..59247044,2	K562	blood:
4	chr1:59194152..59196031-chr1:59196369..59198347,2	MCF-7	breast:
5	chr1:59192672..59194770-chr1:59244784..59246788,2	MCF-7	breast:

Extended variants
information (count: 248 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547395048	chr1:59194267-59194268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148495189	chr1:59194384-59194385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532975141	chr1:59194426-59194427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185426829	chr1:59194466-59194467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569723246	chr1:59194491-59194492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535553936	chr1:59194495-59194496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76898285	chr1:59194506-59194507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565562774	chr1:59194522-59194523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572036534	chr1:59194529-59194530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142322033	chr1:59194554-59194555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561926456	chr1:59194585-59194586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534643404	chr1:59194594-59194595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367597513	chr1:59194635-59194636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554152858	chr1:59194640-59194641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577506416	chr1:59194655-59194656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545983925	chr1:59194693-59194694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201221153	chr1:59194704-59194705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372259658	chr1:59194739-59194740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141896049	chr1:59194835-59194836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576085279	chr1:59194849-59194850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200656125	chr1:59194874-59194875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200015805	chr1:59194885-59194886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541932965	chr1:59194892-59194893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369245043	chr1:59194907-59194908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533408036	chr1:59194927-59194928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561716762	chr1:59194933-59194934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527662924	chr1:59194945-59194946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541458035	chr1:59194947-59194948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564222595	chr1:59194957-59194958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533263162	chr1:59194958-59194959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549961665	chr1:59194962-59194963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569882796	chr1:59194965-59194966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551472389	chr1:59194977-59194978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528970202	chr1:59194982-59194983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549078763	chr1:59194985-59194986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565800628	chr1:59194987-59194988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12141203	chr1:59194988-59194989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201030007	chr1:59194997-59194998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12137715	chr1:59194999-59195000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551403026	chr1:59195015-59195016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571009436	chr1:59195017-59195018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7538113	chr1:59195018-59195019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576248253	chr1:59195020-59195021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535678754	chr1:59195021-59195022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555572323	chr1:59195022-59195023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572549446	chr1:59195025-59195026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7527534	chr1:59195029-59195030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564517888	chr1:59195032-59195033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577974107	chr1:59195033-59195034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543762607	chr1:59195037-59195038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59183400-59197600	Weak transcription	Aorta	Aorta
2	chr1:59189800-59194400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:59190200-59194400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:59191200-59194400	Enhancers	HMEC	breast
5	chr1:59191800-59194400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:59191800-59194400	Enhancers	HUVEC	blood vessel
7	chr1:59192200-59194400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59192400-59194400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:59192400-59194400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:59192400-59194400	Enhancers	HSMM	muscle
11	chr1:59192400-59194400	Enhancers	NHEK	skin
12	chr1:59192600-59194400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:59192600-59204200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:59192800-59194400	Enhancers	Hela-S3	cervix
15	chr1:59192800-59194400	Enhancers	HepG2	liver
16	chr1:59193000-59194400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:59193000-59194400	Enhancers	NHLF	lung
18	chr1:59193600-59194400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:59193600-59197800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:59193600-59200200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:59193800-59197400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:59193800-59197400	Weak transcription	Osteobl	bone
23	chr1:59193800-59197600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:59193800-59197600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:59194200-59194400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:59194200-59194400	Flanking Active TSS	NHDF-Ad	bronchial
27	chr1:59194400-59197200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:59194400-59197400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:59194400-59197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:59194400-59197400	Weak transcription	NHEK	skin
31	chr1:59194400-59197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:59194400-59197600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:59194400-59197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:59194400-59197600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:59194400-59197600	Weak transcription	HMEC	breast
36	chr1:59194400-59197600	Weak transcription	NHDF-Ad	bronchial
37	chr1:59194400-59197800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:59197200-59198800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:59197400-59198200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:59197400-59198400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:59197400-59198400	Enhancers	NHEK	skin
42	chr1:59197400-59198600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:59197400-59198600	Enhancers	Osteobl	bone
44	chr1:59197400-59198800	Enhancers	Rectal Smooth Muscle	rectum
45	chr1:59197600-59198000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:59197600-59198200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:59197600-59198200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:59197600-59198200	Enhancers	HMEC	breast
49	chr1:59197600-59198400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:59197600-59198400	Enhancers	Muscle Satellite Cultured Cells	--

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