Variant report

Variant	esv3321139
Chromosome Location	chr1:215492331-215501079
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	chr1:215500545..215503507-chr1:215504494..215507015,2	K562	blood:
2	chr1:215485891..215487601-chr1:215497785..215499384,2	MCF-7	breast:

Extended variants
information (count: 233 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:233 , 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	rs567145749	chr1:215494828-215494829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553604094	chr1:215494864-215494865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573431809	chr1:215494869-215494870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539353009	chr1:215494932-215494933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185669023	chr1:215494967-215494968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570534197	chr1:215494975-215494976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373920490	chr1:215495009-215495010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558955328	chr1:215495013-215495014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539541861	chr1:215495018-215495019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542490785	chr1:215495076-215495077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115792675	chr1:215495098-215495099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563437139	chr1:215495118-215495119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573398493	chr1:215495159-215495160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534399559	chr1:215495244-215495245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542268830	chr1:215495250-215495251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559132092	chr1:215495256-215495257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528237555	chr1:215495273-215495274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546344453	chr1:215495279-215495280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566141179	chr1:215495298-215495299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376648795	chr1:215495353-215495354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551676274	chr1:215495355-215495356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565013015	chr1:215495364-215495365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189543370	chr1:215495376-215495377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550692035	chr1:215495387-215495388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369626949	chr1:215495398-215495399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80026251	chr1:215495452-215495453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535038636	chr1:215495594-215495595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140168138	chr1:215495601-215495602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547079092	chr1:215495681-215495682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373504271	chr1:215495734-215495735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567089085	chr1:215495781-215495782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561113408	chr1:215495789-215495790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554932264	chr1:215495796-215495797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182241146	chr1:215495808-215495809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559235721	chr1:215495842-215495843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187619601	chr1:215495843-215495844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528415891	chr1:215495878-215495879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570870027	chr1:215495880-215495881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552679716	chr1:215495899-215495900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202018367	chr1:215495915-215495916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573261580	chr1:215495945-215495946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542330339	chr1:215495962-215495963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75040935	chr1:215495992-215495993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193230344	chr1:215496077-215496078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10494999	chr1:215496139-215496140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200238551	chr1:215496220-215496221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184033089	chr1:215496245-215496246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530714679	chr1:215496269-215496270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550807051	chr1:215496341-215496342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558352278	chr1:215496361-215496362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215494800-215496600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:215495200-215495600	Enhancers	Osteobl	bone
3	chr1:215495200-215495800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:215495200-215495800	Enhancers	NHDF-Ad	bronchial
5	chr1:215495400-215496200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:215496200-215497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:215497000-215497400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:215497000-215497600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:215497000-215498200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:215497600-215498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:215498600-215499400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:215499400-215504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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