Variant report

Variant	esv3339283
Chromosome Location	chr7:136367812-136369960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565619302	chr7:136367826-136367827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182897936	chr7:136367841-136367842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10216139	chr7:136367993-136367994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555653067	chr7:136367998-136367999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371797867	chr7:136368040-136368041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186732474	chr7:136368096-136368097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10215129	chr7:136368153-136368154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76338046	chr7:136368180-136368181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189585119	chr7:136368186-136368187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542986818	chr7:136368195-136368196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183279171	chr7:136368202-136368203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78758282	chr7:136368233-136368234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527373054	chr7:136368250-136368251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559711464	chr7:136368251-136368252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75516574	chr7:136368279-136368280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542121076	chr7:136368310-136368311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187544360	chr7:136368335-136368336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114601243	chr7:136368343-136368344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550160102	chr7:136368351-136368352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564238291	chr7:136368373-136368374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192478328	chr7:136368380-136368381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546641415	chr7:136368532-136368533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200299190	chr7:136368549-136368550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566550269	chr7:136368572-136368573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561943622	chr7:136368579-136368580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527909338	chr7:136368586-136368587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547855939	chr7:136368601-136368602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538764801	chr7:136368619-136368620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143966589	chr7:136368665-136368666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569166799	chr7:136368721-136368722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10249076	chr7:136368796-136368797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs6467678	chr7:136368797-136368798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188313944	chr7:136368818-136368819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539573001	chr7:136368869-136368870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144289193	chr7:136368944-136368945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573367443	chr7:136368952-136368953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542010340	chr7:136368966-136368967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552326880	chr7:136368970-136368971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562094292	chr7:136369001-136369002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533492568	chr7:136369040-136369041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575512741	chr7:136369113-136369114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543842221	chr7:136369145-136369146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192962986	chr7:136369161-136369162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148314945	chr7:136369166-136369167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184633061	chr7:136369170-136369171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546385147	chr7:136369245-136369246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560181988	chr7:136369246-136369247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565913761	chr7:136369277-136369278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114288960	chr7:136369289-136369290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10279562	chr7:136369412-136369413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136367400-136370200	Weak transcription	Brain Germinal Matrix	brain

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