Variant report

Variant	esv3441522
Chromosome Location	chr7:137155837-137158160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115128124	chr7:137155841-137155842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73445375	chr7:137155865-137155866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs71541354	chr7:137155886-137155887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573741954	chr7:137155931-137155932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186451491	chr7:137155973-137155974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116439498	chr7:137155975-137155976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575267310	chr7:137155982-137155983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369130859	chr7:137155986-137155987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564110916	chr7:137156022-137156023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6967642	chr7:137156054-137156055	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78380205	chr7:137156079-137156080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190927816	chr7:137156093-137156094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558954742	chr7:137156095-137156096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529487505	chr7:137156100-137156101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548846932	chr7:137156107-137156108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78039529	chr7:137156126-137156127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2882644	chr7:137156138-137156139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7800546	chr7:137156181-137156182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571231349	chr7:137156192-137156193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533855884	chr7:137156210-137156211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554029408	chr7:137156221-137156222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6467704	chr7:137156237-137156238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183090198	chr7:137156262-137156263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553630096	chr7:137156338-137156339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374343797	chr7:137156384-137156385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143514166	chr7:137156406-137156407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115713426	chr7:137156420-137156421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186917910	chr7:137156442-137156443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191759885	chr7:137156445-137156446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116838720	chr7:137156491-137156492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73169834	chr7:137156492-137156493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572117758	chr7:137156503-137156504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75592028	chr7:137156511-137156512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563046349	chr7:137156547-137156548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531451924	chr7:137156548-137156549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9655902	chr7:137156690-137156691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564879162	chr7:137156697-137156698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71177904	chr7:137156709-137156710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35785213	chr7:137156710-137156711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576877116	chr7:137156731-137156732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201840703	chr7:137156748-137156749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201511101	chr7:137156792-137156793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376359455	chr7:137156808-137156809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59558067	chr7:137156817-137156818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111219459	chr7:137156830-137156831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575481016	chr7:137156832-137156833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547407224	chr7:137156841-137156842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201002910	chr7:137156842-137156843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369555962	chr7:137156859-137156860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546600707	chr7:137156863-137156864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137139800-137165000	Weak transcription	Fetal Brain Female	brain
2	chr7:137147800-137160600	Weak transcription	NH-A	brain
3	chr7:137148000-137160400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:137148200-137161800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:137148400-137160400	Weak transcription	HSMMtube	muscle
6	chr7:137148400-137160800	Weak transcription	HSMM	muscle
7	chr7:137148600-137206400	Weak transcription	Aorta	Aorta
8	chr7:137149600-137160600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:137149600-137161600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:137150800-137160600	Weak transcription	Osteobl	bone
11	chr7:137151200-137160800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:137152000-137159400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:137152000-137179400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:137153400-137156000	Enhancers	Fetal Heart	heart
15	chr7:137155000-137156000	Weak transcription	Right Atrium	heart
16	chr7:137155800-137156200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:137156000-137156200	Enhancers	Right Atrium	heart
18	chr7:137156000-137157600	Weak transcription	Fetal Heart	heart
19	chr7:137157600-137157800	Enhancers	Fetal Heart	heart

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