Variant report

Variant	esv3441359
Chromosome Location	chr7:147585772-147592059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 264 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543759324	chr7:147585778-147585779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2538976	chr7:147585819-147585820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs2708253	chr7:147585865-147585866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546911702	chr7:147585873-147585874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10608123	chr7:147585904-147585905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398067388	chr7:147585907-147585908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566797919	chr7:147585914-147585915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144209439	chr7:147586022-147586023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552178208	chr7:147586036-147586037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78584397	chr7:147586042-147586043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57921419	chr7:147586093-147586094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs992368	chr7:147586119-147586120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76229836	chr7:147586138-147586139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553357017	chr7:147586178-147586179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10488350	chr7:147586182-147586183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs577504324	chr7:147586227-147586228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531610424	chr7:147586303-147586304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180681055	chr7:147586359-147586360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35357395	chr7:147586396-147586397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34580784	chr7:147586397-147586398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13235491	chr7:147586438-147586439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116956878	chr7:147586439-147586440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576561912	chr7:147586455-147586456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146538105	chr7:147586465-147586466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13235505	chr7:147586468-147586469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2538975	chr7:147586474-147586475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs186291050	chr7:147586494-147586495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373430633	chr7:147586518-147586519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546805915	chr7:147586553-147586554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2215798	chr7:147586581-147586582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs532458314	chr7:147586592-147586593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551854209	chr7:147586599-147586600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34002554	chr7:147586600-147586601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568844599	chr7:147586652-147586653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575231800	chr7:147586700-147586701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192143787	chr7:147586755-147586756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547879320	chr7:147586780-147586781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11977877	chr7:147586818-147586819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371957189	chr7:147586838-147586839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534113232	chr7:147586850-147586851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554374763	chr7:147586881-147586882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571019601	chr7:147586889-147586890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17170737	chr7:147586930-147586931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375085996	chr7:147586932-147586933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556235692	chr7:147586957-147586958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551630398	chr7:147586979-147586980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6958734	chr7:147587002-147587003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555881389	chr7:147587009-147587010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150842897	chr7:147587139-147587140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75449030	chr7:147587140-147587141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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	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
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	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
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147582000-147589400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:147589400-147592000	Enhancers	Brain Substantia Nigra	brain
3	chr7:147589600-147591600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:147590400-147590600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:147590400-147591400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:147590600-147591600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:147590600-147591800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:147590600-147591800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:147590600-147592000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:147590800-147591600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:147590800-147591600	Enhancers	Brain Anterior Caudate	brain
12	chr7:147590800-147591600	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:147590800-147591600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:147590800-147591800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:147591000-147591600	Enhancers	Brain Angular Gyrus	brain
16	chr7:147591000-147591800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:147591000-147591800	Enhancers	Brain Hippocampus Middle	brain
18	chr7:147591000-147592000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:147591200-147591800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:147591400-147591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:147591600-147593400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:147591800-147593600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:147592000-147592800	Weak transcription	H1 Cell Line	embryonic stem cell

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