Variant report

Variant	esv3334719
Chromosome Location	chr7:136266112-136268385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556669990	chr7:136266116-136266117	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs115783390	chr7:136266132-136266133	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs563243152	chr7:136266174-136266175	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532265371	chr7:136266187-136266188	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551766753	chr7:136266222-136266223	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555369580	chr7:136266246-136266247	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565904296	chr7:136266251-136266252	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191504439	chr7:136266257-136266258	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs527663785	chr7:136266284-136266285	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547947615	chr7:136266297-136266298	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536418473	chr7:136266321-136266322	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs371096827	chr7:136266397-136266398	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536895787	chr7:136266404-136266405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183810447	chr7:136266408-136266409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73455680	chr7:136266415-136266416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538932567	chr7:136266427-136266428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559178822	chr7:136266459-136266460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185449017	chr7:136266488-136266489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139850063	chr7:136266493-136266494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs880420	chr7:136266528-136266529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373442772	chr7:136266567-136266568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543221945	chr7:136266585-136266586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563109489	chr7:136266611-136266612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4386921	chr7:136266612-136266613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369321649	chr7:136266646-136266647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541659718	chr7:136266812-136266813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112798945	chr7:136266827-136266828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71541308	chr7:136266835-136266836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555231056	chr7:136266841-136266842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545806950	chr7:136266842-136266843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575493945	chr7:136266851-136266852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71535289	chr7:136266865-136266866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9692068	chr7:136266874-136266875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189911651	chr7:136266886-136266887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184642987	chr7:136266915-136266916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13225091	chr7:136266921-136266922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112404422	chr7:136266931-136266932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201930838	chr7:136266950-136266951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28759479	chr7:136266956-136266957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200380420	chr7:136266985-136266986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28573828	chr7:136266991-136266992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28524100	chr7:136267026-136267027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28439694	chr7:136267061-136267062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28561586	chr7:136267096-136267097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28514381	chr7:136267131-136267132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62642075	chr7:136267160-136267161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13225415	chr7:136267166-136267167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62487990	chr7:136267195-136267196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28702915	chr7:136267201-136267202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62487991	chr7:136267230-136267231	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136264000-136276400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:136266000-136266400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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