Variant report

Variant	esv2421770
Chromosome Location	chr1:214853290-214855522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214848173..214850892-chr1:214853976..214857551,3	K562	blood:
2	chr1:214850136..214853701-chr1:214856174..214859270,3	MCF-7	breast:
3	chr1:214848812..214851960-chr1:214852511..214855713,3	MCF-7	breast:
4	chr1:214848173..214850892-chr1:214855334..214857551,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532839887	chr1:214853327-214853328	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183810348	chr1:214853339-214853340	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538605501	chr1:214853345-214853346	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558530006	chr1:214853392-214853393	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187860120	chr1:214853429-214853430	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs35584362	chr1:214853447-214853448	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs544338330	chr1:214853464-214853465	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs34793063	chr1:214853471-214853472	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs12137278	chr1:214853481-214853482	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142808329	chr1:214853491-214853492	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs73083653	chr1:214853517-214853518	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535489072	chr1:214853551-214853552	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs560583022	chr1:214853553-214853554	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs532859887	chr1:214853588-214853589	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs570823976	chr1:214853645-214853646	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs556073631	chr1:214853657-214853658	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs564915715	chr1:214853661-214853662	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs115486129	chr1:214853690-214853691	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs191680798	chr1:214853710-214853711	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs146060419	chr1:214853716-214853717	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs373944856	chr1:214853838-214853839	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs567379275	chr1:214853879-214853880	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs7525628	chr1:214853887-214853888	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369065128	chr1:214853919-214853920	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs186616879	chr1:214853942-214853943	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs566380198	chr1:214853965-214853966	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs55893320	chr1:214854015-214854016	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs558517455	chr1:214854042-214854043	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs575269321	chr1:214854047-214854048	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs538315337	chr1:214854049-214854050	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs554738752	chr1:214854056-214854057	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs574886971	chr1:214854058-214854059	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs77975445	chr1:214854193-214854194	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs148265020	chr1:214854335-214854336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554454715	chr1:214854431-214854432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577603439	chr1:214854465-214854466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs449916	chr1:214854492-214854493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs386639257	chr1:214854562-214854563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201518915	chr1:214854566-214854567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10864113	chr1:214854574-214854575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544213928	chr1:214854575-214854576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560778132	chr1:214854609-214854610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529796704	chr1:214854618-214854619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs387275	chr1:214854736-214854737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566368023	chr1:214854762-214854763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532257512	chr1:214854784-214854785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552079913	chr1:214854845-214854846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191462356	chr1:214854861-214854862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116050639	chr1:214854868-214854869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534028158	chr1:214854906-214854907	Weak transcription	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214804000-214858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:214841400-214857000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:214842200-214856800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:214843000-214857000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:214844000-214857000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:214845400-214856800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:214845600-214857000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:214846000-214856800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:214846000-214856800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:214846200-214857000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:214847800-214857000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:214852800-214854200	Weak transcription	HepG2	liver
13	chr1:214853000-214853400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:214853400-214854200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:214854200-214854400	Enhancers	HepG2	liver
16	chr1:214854400-214856200	Weak transcription	HepG2	liver
17	chr1:214855400-214855600	Enhancers	Cortex derived primary cultured neurospheres	brain

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