Variant report

Variant	esv3364931
Chromosome Location	chr7:103511816-103513714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103496481..103498750-chr7:103510746..103512273,2	K562	blood:
2	chr7:103510872..103513089-chr7:103514566..103516853,2	K562	blood:
3	chr7:103510796..103513502-chr7:103565026..103567236,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543894933	chr7:103511836-103511837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188113942	chr7:103511840-103511841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565452382	chr7:103511916-103511917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2299394	chr7:103511943-103511944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs181070027	chr7:103511957-103511958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373163812	chr7:103511971-103511972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114389238	chr7:103512012-103512013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9791408	chr7:103512017-103512018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116020911	chr7:103512020-103512021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569877970	chr7:103512063-103512064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544785950	chr7:103512083-103512084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536856956	chr7:103512156-103512157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111262207	chr7:103512164-103512165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530321554	chr7:103512177-103512178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528803524	chr7:103512186-103512187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370667429	chr7:103512191-103512192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570677287	chr7:103512209-103512210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371560788	chr7:103512263-103512264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553040304	chr7:103512350-103512351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574477121	chr7:103512357-103512358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535594410	chr7:103512358-103512359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556786023	chr7:103512363-103512364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112801922	chr7:103512367-103512368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115761410	chr7:103512383-103512384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543667597	chr7:103512393-103512394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9791440	chr7:103512400-103512401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17133142	chr7:103512401-103512402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs9792001	chr7:103512454-103512455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376953432	chr7:103512461-103512462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201501048	chr7:103512473-103512474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142665123	chr7:103512475-103512476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199964717	chr7:103512477-103512478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143543255	chr7:103512478-103512479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10258935	chr7:103512483-103512484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10274697	chr7:103512484-103512485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28427312	chr7:103512490-103512491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374943426	chr7:103512491-103512492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371626354	chr7:103512492-103512493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9792002	chr7:103512495-103512496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28400383	chr7:103512499-103512500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28544198	chr7:103512500-103512501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9792003	chr7:103512503-103512504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192361271	chr7:103512516-103512517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200497413	chr7:103512519-103512520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374081468	chr7:103512591-103512592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113897661	chr7:103512616-103512617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112418162	chr7:103512617-103512618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112107786	chr7:103512623-103512624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs264362	chr7:103512652-103512653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28734784	chr7:103512661-103512662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103498200-103519800	Weak transcription	K562	blood
2	chr7:103508800-103519400	Weak transcription	HepG2	liver

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