Variant report

Variant	nsv518230
Chromosome Location	chr7:137089537-137090469
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	chr7:137083432..137086425-chr7:137089832..137091698,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1156143	chr7:137089537-137089538	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527569880	chr7:137089551-137089552	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187014899	chr7:137089558-137089559	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139623464	chr7:137089570-137089571	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5887837	chr7:137089582-137089583	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398006516	chr7:137089584-137089585	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191454230	chr7:137089599-137089600	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549453880	chr7:137089606-137089607	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564707107	chr7:137089613-137089614	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538211593	chr7:137089648-137089649	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552127707	chr7:137089663-137089664	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183491285	chr7:137089751-137089752	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541476399	chr7:137089774-137089775	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377095971	chr7:137089830-137089831	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571933710	chr7:137089846-137089847	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534208048	chr7:137089858-137089859	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575464080	chr7:137089888-137089889	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540927617	chr7:137089892-137089893	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554383049	chr7:137089899-137089900	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373665973	chr7:137089969-137089970	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58612177	chr7:137089989-137089990	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34385874	chr7:137089994-137089995	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72577604	chr7:137090002-137090003	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200990939	chr7:137090004-137090005	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555797511	chr7:137090019-137090020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151039967	chr7:137090050-137090051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544575770	chr7:137090124-137090125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368198324	chr7:137090130-137090131	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563834787	chr7:137090132-137090133	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372124358	chr7:137090145-137090146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1647182	chr7:137090153-137090154	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577991072	chr7:137090166-137090167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1731942	chr7:137090174-137090175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139676176	chr7:137090177-137090178	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543134703	chr7:137090236-137090237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1731941	chr7:137090333-137090334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76949369	chr7:137090347-137090348	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531816391	chr7:137090362-137090363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551830943	chr7:137090372-137090373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545986192	chr7:137090381-137090382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563589716	chr7:137090405-137090406	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10224080	chr7:137090425-137090426	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4728409	chr7:137090469-137090470	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137073800-137095600	Weak transcription	HSMMtube	muscle
2	chr7:137080600-137106000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:137081200-137090000	Weak transcription	Aorta	Aorta
4	chr7:137082200-137089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:137084800-137090200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:137085200-137102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:137085400-137090000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:137085400-137091600	Weak transcription	HSMM	muscle
9	chr7:137085600-137089600	Weak transcription	Osteobl	bone
10	chr7:137085800-137089600	Weak transcription	NH-A	brain
11	chr7:137086000-137102200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:137086000-137102400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:137087600-137089600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:137088000-137089600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:137088200-137092400	Weak transcription	Brain Germinal Matrix	brain
16	chr7:137088200-137093800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:137088400-137089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:137088400-137089800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:137088400-137089800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:137088400-137089800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:137088400-137089800	Enhancers	Brain Hippocampus Middle	brain
22	chr7:137088400-137092000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:137088400-137092400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:137088400-137094600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:137088600-137089800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:137088800-137091600	Weak transcription	Brain Substantia Nigra	brain
27	chr7:137088800-137092600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:137089000-137089600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:137089200-137089800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:137089200-137090200	Enhancers	NHDF-Ad	bronchial
31	chr7:137089200-137090400	Enhancers	Brain Anterior Caudate	brain
32	chr7:137089200-137091000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:137089400-137089600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:137089400-137089800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:137089600-137089800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:137089600-137089800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:137089600-137090000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:137089600-137090000	Enhancers	NH-A	brain
39	chr7:137089600-137090200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:137089600-137090200	Enhancers	Osteobl	bone
41	chr7:137089800-137092200	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:137089800-137092800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:137089800-137092800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:137090000-137091000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:137090000-137091400	Strong transcription	Aorta	Aorta
46	chr7:137090000-137091600	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr7:137090200-137091000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:137090200-137093000	Weak transcription	Osteobl	bone
49	chr7:137090400-137092000	Weak transcription	Brain Anterior Caudate	brain

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