Variant report

Variant	esv3398802
Chromosome Location	chr7:109172866-109173964
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	chr7:109165222..109166940-chr7:109173413..109175502,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576193406	chr7:109172936-109172937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552770878	chr7:109172976-109172977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565803896	chr7:109172987-109172988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143060678	chr7:109173001-109173002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554562544	chr7:109173005-109173006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148356186	chr7:109173008-109173009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188459371	chr7:109173067-109173068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561969749	chr7:109173070-109173071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556817111	chr7:109173096-109173097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6950002	chr7:109173123-109173124	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1524277	chr7:109173130-109173131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552702240	chr7:109173153-109173154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572511925	chr7:109173160-109173161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541156716	chr7:109173162-109173163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561377541	chr7:109173165-109173166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559449906	chr7:109173169-109173170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11981821	chr7:109173180-109173181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181084291	chr7:109173185-109173186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4324869	chr7:109173230-109173231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185733443	chr7:109173233-109173234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549111120	chr7:109173266-109173267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376564574	chr7:109173268-109173269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67633076	chr7:109173269-109173270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71141659	chr7:109173277-109173278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3082107	chr7:109173281-109173282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10953620	chr7:109173373-109173374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190501590	chr7:109173379-109173380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552807560	chr7:109173394-109173395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183757005	chr7:109173402-109173403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141536536	chr7:109173509-109173510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547979941	chr7:109173526-109173527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563591626	chr7:109173651-109173652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564881067	chr7:109173660-109173661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568078139	chr7:109173816-109173817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35228914	chr7:109173826-109173827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571438150	chr7:109173838-109173839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536628708	chr7:109173846-109173847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146359615	chr7:109173852-109173853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560449599	chr7:109173854-109173855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139781243	chr7:109173891-109173892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143056352	chr7:109173900-109173901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12705613	chr7:109173956-109173957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4418282	chr7:109173963-109173964	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109171800-109174200	Enhancers	Dnd41	blood
2	chr7:109172200-109173200	Enhancers	Fetal Intestine Small	intestine
3	chr7:109172400-109173000	Enhancers	Fetal Intestine Large	intestine

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