Variant report

Variant	esv3340395
Chromosome Location	chr1:221827809-221832266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221828900..221831688-chr1:221913117..221915245,2	K562	blood:
2	chr1:221826366..221828507-chr1:221841172..221843520,2	MCF-7	breast:
3	chr1:221830865..221833221-chr1:221836408..221838119,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369825949	chr1:221828246-221828247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187478043	chr1:221828270-221828271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566588005	chr1:221828335-221828336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146628278	chr1:221828384-221828385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548866272	chr1:221828391-221828392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141406674	chr1:221828413-221828414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545211202	chr1:221828422-221828423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144007992	chr1:221828438-221828439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549794383	chr1:221828446-221828447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61817898	chr1:221828460-221828461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112263742	chr1:221828471-221828472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538796889	chr1:221828480-221828481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192327785	chr1:221828484-221828485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376409914	chr1:221828485-221828486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572556967	chr1:221828490-221828491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149071835	chr1:221828498-221828499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369680534	chr1:221828514-221828515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12034889	chr1:221828522-221828523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12034891	chr1:221828526-221828527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143054778	chr1:221828556-221828557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562515398	chr1:221828563-221828564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577553709	chr1:221828568-221828569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544784174	chr1:221828576-221828577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560144447	chr1:221828581-221828582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527514382	chr1:221828662-221828663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12038253	chr1:221828676-221828677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs560730294	chr1:221828682-221828683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373264741	chr1:221828689-221828690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531548865	chr1:221828702-221828703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560612260	chr1:221828726-221828727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529340075	chr1:221828741-221828742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76410139	chr1:221828841-221828842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372584685	chr1:221828865-221828866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73123123	chr1:221828866-221828867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538979246	chr1:221828868-221828869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184537951	chr1:221828886-221828887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566131914	chr1:221828904-221828905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536726781	chr1:221829008-221829009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188607964	chr1:221829010-221829011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576704743	chr1:221829012-221829013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537778925	chr1:221829015-221829016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559165070	chr1:221829025-221829026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113255636	chr1:221829050-221829051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115051155	chr1:221829061-221829062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549362855	chr1:221829106-221829107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199601452	chr1:221829153-221829154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199595088	chr1:221829155-221829156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373566794	chr1:221829156-221829157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189580438	chr1:221829158-221829159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542312068	chr1:221829162-221829163	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221828200-221830400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:221829200-221830400	Enhancers	K562	blood
3	chr1:221831200-221831600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:221832200-221832600	Enhancers	GM12878-XiMat	blood

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