Variant report

Variant	esv2558199
Chromosome Location	chr7:147726823-147728311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149846607	chr7:147727802-147727803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533726108	chr7:147727818-147727819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368767329	chr7:147727825-147727826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190849017	chr7:147727853-147727854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10952725	chr7:147727929-147727930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559651460	chr7:147727936-147727937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146858906	chr7:147727938-147727939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140673162	chr7:147727947-147727948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542073569	chr7:147727951-147727952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145768374	chr7:147727957-147727958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183932177	chr7:147727995-147727996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541024063	chr7:147727996-147727997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564180078	chr7:147728000-147728001	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs533235183	chr7:147728015-147728016	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs549888719	chr7:147728043-147728044	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs563650913	chr7:147728059-147728060	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs12540049	chr7:147728115-147728116	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10952726	chr7:147728133-147728134	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539446342	chr7:147728143-147728144	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs568343439	chr7:147728145-147728146	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs10952727	chr7:147728148-147728149	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550144506	chr7:147728172-147728173	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs146696492	chr7:147728175-147728176	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs571576874	chr7:147728202-147728203	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs117290558	chr7:147728242-147728243	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs556191531	chr7:147728244-147728245	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs547102439	chr7:147728255-147728256	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs148840218	chr7:147728264-147728265	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs143469720	chr7:147728306-147728307	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs373422174	chr7:147728311-147728312	Enhancers Bivalent Enhancer	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147727800-147728200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147728000-147728200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:147728000-147728200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr7:147728000-147728200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr7:147728000-147728600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:147728200-147729400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links