Variant report

Variant	esv3425604
Chromosome Location	chr7:136986565-136987133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:136983518..136985110-chr7:136986061..136988614,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79549873	chr7:136986573-136986574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528491932	chr7:136986602-136986603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542178401	chr7:136986621-136986622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs322260	chr7:136986624-136986625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549027299	chr7:136986642-136986643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559372857	chr7:136986669-136986670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190424360	chr7:136986671-136986672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146930944	chr7:136986703-136986704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370610199	chr7:136986706-136986707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564697577	chr7:136986806-136986807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533552459	chr7:136986828-136986829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182217058	chr7:136986844-136986845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542764628	chr7:136986852-136986853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566535630	chr7:136986858-136986859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186867219	chr7:136986907-136986908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200303786	chr7:136986957-136986958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150818793	chr7:136986971-136986972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115607700	chr7:136987026-136987027	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537792308	chr7:136987047-136987048	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs557606218	chr7:136987048-136987049	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577447515	chr7:136987059-136987060	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533703482	chr7:136987082-136987083	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs553211712	chr7:136987098-136987099	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573242199	chr7:136987122-136987123	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136968600-136989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:136972200-136990400	Weak transcription	Fetal Stomach	stomach
3	chr7:136975200-136991000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr7:136976600-136991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:136979200-136989800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:136979400-136990800	Enhancers	Brain Anterior Caudate	brain
7	chr7:136981600-136986800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:136981600-136990200	Weak transcription	Fetal Lung	lung
9	chr7:136981600-136990800	Enhancers	Brain Hippocampus Middle	brain
10	chr7:136982600-136989000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:136982800-137008400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:136983200-136989000	Enhancers	Brain Substantia Nigra	brain
13	chr7:136983800-136987800	Weak transcription	Fetal Brain Female	brain
14	chr7:136983800-136989800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:136983800-136990600	Weak transcription	Fetal Heart	heart
16	chr7:136984000-136986800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:136984000-136990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:136984200-136990800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:136984400-136990400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:136985400-136990600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:136985600-136987400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:136986000-136987000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:136986000-136987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:136986200-136987200	Weak transcription	Fetal Kidney	kidney
25	chr7:136986200-136989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:136986400-136987000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:136986400-136987400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:136986800-136989400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:136986800-136989400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:136987000-136987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:136987000-136987600	Active TSS	Brain Angular Gyrus	brain
32	chr7:136987000-136991800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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