Variant report

Variant	esv19143
Chromosome Location	chr7:147102850-147104109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73740629	chr7:147102897-147102898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7788729	chr7:147102910-147102911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532485791	chr7:147102917-147102918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7788870	chr7:147102965-147102966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7788875	chr7:147102976-147102977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76181499	chr7:147103007-147103008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78667762	chr7:147103032-147103033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7805259	chr7:147103050-147103051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs826655	chr7:147103075-147103076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182232030	chr7:147103076-147103077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533916077	chr7:147103096-147103097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553714283	chr7:147103185-147103186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6464797	chr7:147103217-147103218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546132295	chr7:147103220-147103221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140170252	chr7:147103287-147103288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201367566	chr7:147103291-147103292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556825835	chr7:147103292-147103293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576551849	chr7:147103293-147103294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542457448	chr7:147103295-147103296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56788081	chr7:147103308-147103309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560799858	chr7:147103310-147103311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6464798	chr7:147103337-147103338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540347506	chr7:147103344-147103345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560164911	chr7:147103490-147103491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532149465	chr7:147103537-147103538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140061134	chr7:147103543-147103544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562844482	chr7:147103653-147103654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149792411	chr7:147103656-147103657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145731070	chr7:147103661-147103662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567927556	chr7:147103680-147103681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114175108	chr7:147103687-147103688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560468160	chr7:147103691-147103692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547488759	chr7:147103715-147103716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560906252	chr7:147103777-147103778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570472160	chr7:147103803-147103804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572324812	chr7:147103805-147103806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186791771	chr7:147103812-147103813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556576239	chr7:147103855-147103856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148928247	chr7:147103856-147103857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535657342	chr7:147103886-147103887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373684469	chr7:147103901-147103902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11977189	chr7:147103902-147103903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76439368	chr7:147103922-147103923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540285032	chr7:147103949-147103950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143820826	chr7:147103977-147103978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576901457	chr7:147104034-147104035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11972754	chr7:147104040-147104041	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs151105840	chr7:147104057-147104058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73473282	chr7:147104105-147104106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Glioblastoma multiforme	18628472	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147095400-147120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147097800-147107600	Weak transcription	NHDF-Ad	bronchial
3	chr7:147098400-147103600	Weak transcription	HSMMtube	muscle
4	chr7:147098600-147103200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:147098800-147103200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:147098800-147103200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:147098800-147107800	Weak transcription	Osteobl	bone
8	chr7:147099000-147103200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:147103200-147103800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:147103200-147104200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:147103200-147104200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:147103200-147104200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:147103600-147104200	Enhancers	HSMM	muscle
14	chr7:147103600-147104200	Enhancers	HSMMtube	muscle
15	chr7:147103800-147104200	Enhancers	Fetal Kidney	kidney
16	chr7:147103800-147107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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