Variant report

Variant	esv3444543
Chromosome Location	chr7:147471469-147473567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10265480	chr7:147471487-147471488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528474660	chr7:147471541-147471542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547186803	chr7:147471545-147471546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527512088	chr7:147471555-147471556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78191808	chr7:147471616-147471617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146693214	chr7:147471658-147471659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs851674	chr7:147471710-147471711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535717454	chr7:147471711-147471712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148834433	chr7:147471713-147471714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371921145	chr7:147471714-147471715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76600573	chr7:147471725-147471726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573897540	chr7:147471849-147471850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78663253	chr7:147471861-147471862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs553163425	chr7:147471876-147471877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs151017213	chr7:147471925-147471926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545558167	chr7:147471975-147471976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs75257950	chr7:147471994-147471995	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547497577	chr7:147472026-147472027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186584203	chr7:147472043-147472044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140894204	chr7:147472053-147472054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150157839	chr7:147472070-147472071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75541662	chr7:147472095-147472096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142693468	chr7:147472218-147472219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553630071	chr7:147472219-147472220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374188652	chr7:147472321-147472322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111749761	chr7:147472322-147472323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200939936	chr7:147472333-147472334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202203208	chr7:147472335-147472336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192248857	chr7:147472352-147472353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11767652	chr7:147472376-147472377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2373184	chr7:147472397-147472398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2373185	chr7:147472399-147472400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2373186	chr7:147472402-147472403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373798715	chr7:147472413-147472414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368490416	chr7:147472415-147472416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2373187	chr7:147472430-147472431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372262959	chr7:147472451-147472452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376836947	chr7:147472456-147472457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10554154	chr7:147472457-147472458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201348284	chr7:147472514-147472515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532577619	chr7:147472519-147472520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552306572	chr7:147472572-147472573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571031415	chr7:147472576-147472577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181754034	chr7:147472663-147472664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199642271	chr7:147472678-147472679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550587363	chr7:147472709-147472710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567132190	chr7:147472769-147472770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536594251	chr7:147472786-147472787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576180474	chr7:147472823-147472824	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572005471	chr7:147472828-147472829	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147461200-147472800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:147468800-147472600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:147468800-147472600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:147468800-147473000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:147470000-147472600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:147470400-147471800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:147471400-147472800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:147471800-147472000	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr7:147472000-147472800	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:147472600-147473200	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:147472600-147473400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:147472600-147473600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr7:147472800-147473200	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr7:147472800-147473400	Enhancers	Brain Substantia Nigra	brain
15	chr7:147472800-147473600	Enhancers	Brain Angular Gyrus	brain
16	chr7:147473000-147473400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:147473200-147473800	Enhancers	Brain Hippocampus Middle	brain
18	chr7:147473200-147474600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:147473400-147478000	Weak transcription	Brain Substantia Nigra	brain

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