Variant report

Variant	esv3322613
Chromosome Location	chr1:240138129-240139377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:240114585..240115493-chr1:240139314..240140288,4	K562	blood:
2	chr1:240114810..240116148-chr1:240139242..240140249,5	MCF-7	breast:
3	chr1:240114459..240115474-chr1:240139313..240140289,6	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12136200	chr1:240138130-240138131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576817432	chr1:240138137-240138138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574833912	chr1:240138161-240138162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141350005	chr1:240138184-240138185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529596074	chr1:240138210-240138211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12727004	chr1:240138217-240138218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs202102719	chr1:240138221-240138222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200925384	chr1:240138237-240138238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12728135	chr1:240138240-240138241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59785129	chr1:240138244-240138245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201935647	chr1:240138247-240138248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570168018	chr1:240138252-240138253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112133599	chr1:240138253-240138254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60579657	chr1:240138258-240138259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58814792	chr1:240138267-240138268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375322967	chr1:240138272-240138273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537539805	chr1:240138279-240138280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58114607	chr1:240138280-240138281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57600756	chr1:240138282-240138283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112421757	chr1:240138290-240138291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147033750	chr1:240138309-240138310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148098691	chr1:240138313-240138314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368458745	chr1:240138317-240138318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200280362	chr1:240138319-240138320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200972876	chr1:240138321-240138322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12748085	chr1:240138325-240138326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368812026	chr1:240138328-240138329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71168876	chr1:240138331-240138332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191300240	chr1:240138332-240138333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376315721	chr1:240138336-240138337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185785116	chr1:240138351-240138352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190299627	chr1:240138355-240138356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375651506	chr1:240138371-240138372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60199591	chr1:240138375-240138376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12727185	chr1:240138379-240138380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182121183	chr1:240138383-240138384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186719849	chr1:240138387-240138388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71644996	chr1:240138395-240138396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71644997	chr1:240138411-240138412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541208308	chr1:240138415-240138416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139754644	chr1:240138419-240138420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4028389	chr1:240138423-240138424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529289950	chr1:240138427-240138428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188735077	chr1:240138455-240138456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10926046	chr1:240138467-240138468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369948131	chr1:240138474-240138475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201326379	chr1:240138475-240138476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10926047	chr1:240138478-240138479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4028390	chr1:240138492-240138493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3950965	chr1:240138509-240138510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Breast cancer	17603634	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240137200-240138600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:240138000-240138200	Enhancers	Fetal Intestine Small	intestine
3	chr1:240138200-240138800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:240138800-240139200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:240138800-240139600	Enhancers	Fetal Intestine Small	intestine
6	chr1:240139000-240139200	Enhancers	Fetal Muscle Leg	muscle
7	chr1:240139000-240139600	Enhancers	Fetal Intestine Large	intestine

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