Variant report

Variant	esv3411818
Chromosome Location	chr7:136962062-136964060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541560903	chr7:136962064-136962065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188915	chr7:136962095-136962096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs183362308	chr7:136962183-136962184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148600256	chr7:136962198-136962199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188361950	chr7:136962242-136962243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191162082	chr7:136962243-136962244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1669045	chr7:136962251-136962252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182440205	chr7:136962261-136962262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73163685	chr7:136962273-136962274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374030121	chr7:136962293-136962294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142981133	chr7:136962297-136962298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28578609	chr7:136962328-136962329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543625629	chr7:136962329-136962330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550132964	chr7:136962359-136962360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113374617	chr7:136962361-136962362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117112690	chr7:136962460-136962461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551936999	chr7:136962467-136962468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376895605	chr7:136962495-136962496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186622408	chr7:136962589-136962590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192591433	chr7:136962610-136962611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71814853	chr7:136962644-136962645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202086206	chr7:136962648-136962649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs67432231	chr7:136962650-136962651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201457406	chr7:136962651-136962652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111269993	chr7:136962652-136962653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370468437	chr7:136962659-136962660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374929975	chr7:136962660-136962661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71533741	chr7:136962665-136962666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565759978	chr7:136962687-136962688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184782603	chr7:136962765-136962766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570201376	chr7:136962776-136962777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548137871	chr7:136962781-136962782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535590936	chr7:136962825-136962826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555789927	chr7:136962837-136962838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34193196	chr7:136962843-136962844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574688477	chr7:136962881-136962882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373443570	chr7:136962926-136962927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550797040	chr7:136962927-136962928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376640805	chr7:136962947-136962948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570704304	chr7:136962981-136962982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113765822	chr7:136963009-136963010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71533742	chr7:136963026-136963027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369656351	chr7:136963041-136963042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367592579	chr7:136963054-136963055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71176391	chr7:136963078-136963079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201560202	chr7:136963086-136963087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs833389	chr7:136963115-136963116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377593686	chr7:136963151-136963152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558817432	chr7:136963225-136963226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61525640	chr7:136963233-136963234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136938200-136980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:136952200-136971000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:136961000-136962600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:136961200-136966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:136961400-136962200	Enhancers	Brain Anterior Caudate	brain
6	chr7:136961400-136965800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:136961400-136973600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:136961400-136980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:136961600-136962200	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:136961600-136962200	Enhancers	Brain Substantia Nigra	brain
11	chr7:136961600-136967600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:136961600-136967800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:136961800-136962200	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:136962000-136962400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:136962200-136962400	Enhancers	Brain Hippocampus Middle	brain
16	chr7:136962200-136965600	Weak transcription	Brain Substantia Nigra	brain
17	chr7:136962200-136966200	Weak transcription	Brain Anterior Caudate	brain
18	chr7:136962200-136966200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:136962400-136962600	Enhancers	Brain Angular Gyrus	brain
20	chr7:136962400-136965800	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:136962600-136964200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:136962600-136965000	Weak transcription	Brain Angular Gyrus	brain

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