Variant report

Variant	esv3333680
Chromosome Location	chr1:63216564-63218512
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	chr1:63216427..63219175-chr1:63247590..63249362,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540661799	chr1:63216566-63216567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558915763	chr1:63216619-63216620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34289527	chr1:63216621-63216622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397713087	chr1:63216630-63216631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143768188	chr1:63216691-63216692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542118941	chr1:63216740-63216741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185110630	chr1:63216752-63216753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531150249	chr1:63216760-63216761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552464212	chr1:63216869-63216870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564629847	chr1:63216897-63216898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528560084	chr1:63216908-63216909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34495838	chr1:63216927-63216928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552821460	chr1:63216991-63216992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571675579	chr1:63216993-63216994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187298046	chr1:63217004-63217005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67985494	chr1:63217026-63217027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547055074	chr1:63217028-63217029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568470527	chr1:63217035-63217036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138348776	chr1:63217070-63217071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548522611	chr1:63217087-63217088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189052382	chr1:63217113-63217114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142454189	chr1:63217149-63217150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558456941	chr1:63217194-63217195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570568441	chr1:63217249-63217250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534410779	chr1:63217258-63217259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574460326	chr1:63217283-63217284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71643644	chr1:63217291-63217292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536682876	chr1:63217301-63217302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542895810	chr1:63217318-63217319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71643645	chr1:63217321-63217322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561531578	chr1:63217331-63217332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71643646	chr1:63217334-63217335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200953836	chr1:63217343-63217344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11809792	chr1:63217344-63217345	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181608596	chr1:63217353-63217354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375563227	chr1:63217362-63217363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185335555	chr1:63217364-63217365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188581452	chr1:63217369-63217370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180683317	chr1:63217378-63217379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35301575	chr1:63217379-63217380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7522699	chr1:63217387-63217388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575824206	chr1:63217395-63217396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546410216	chr1:63217396-63217397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200447600	chr1:63217402-63217403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs67017663	chr1:63217403-63217404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11805080	chr1:63217404-63217405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564958313	chr1:63217411-63217412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146303094	chr1:63217419-63217420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528652336	chr1:63217421-63217422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12753662	chr1:63217429-63217430	Weak transcription 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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63208800-63220400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:63211000-63222200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:63212200-63217000	Weak transcription	Fetal Stomach	stomach
4	chr1:63212400-63216600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:63212400-63216800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:63212400-63218600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:63215600-63217000	Weak transcription	Liver	Liver
8	chr1:63215800-63217000	Enhancers	Fetal Heart	heart
9	chr1:63216400-63217200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:63216600-63217200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:63216800-63217200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:63216800-63217200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:63216800-63217200	Enhancers	Adipose Nuclei	Adipose
14	chr1:63216800-63217200	Enhancers	HSMMtube	muscle
15	chr1:63217000-63217800	Enhancers	Liver	Liver
16	chr1:63217000-63217800	Enhancers	Ovary	ovary
17	chr1:63217000-63218400	Enhancers	Aorta	Aorta
18	chr1:63217200-63220000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:63217200-63220400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:63217600-63222400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:63218200-63219000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:63218200-63219400	Enhancers	Placenta	Placenta
23	chr1:63218400-63220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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