Variant report

Variant	nsv608939
Chromosome Location	chr7:146332953-146464965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
2	chr7:146371392..146373633-chr7:146379567..146381650,2	MCF-7	breast:
3	chr7:144849072..144851097-chr7:146354909..146357646,2	K562	blood:
4	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
5	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
6	chr7:146433750..146434499-chr7:147781098..147781819,2	MCF-7	breast:
7	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:

Extended variants
information (count: 2677 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2677 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs766094	chr7:146332953-146332954	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368854199	chr7:146332967-146332968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149275741	chr7:146332980-146332981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533434937	chr7:146332984-146332985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189621118	chr7:146333024-146333025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372818408	chr7:146333031-146333032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557906193	chr7:146333034-146333035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74762914	chr7:146333037-146333038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552359183	chr7:146333053-146333054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13224330	chr7:146333057-146333058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528084885	chr7:146333087-146333088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566532879	chr7:146333107-146333108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34417022	chr7:146333159-146333160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527654274	chr7:146333160-146333161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531769555	chr7:146333202-146333203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555784317	chr7:146333227-146333228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548801891	chr7:146333252-146333253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574318744	chr7:146333259-146333260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548281436	chr7:146333260-146333261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144474375	chr7:146333285-146333286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528018371	chr7:146333298-146333299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544588578	chr7:146333312-146333313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148403698	chr7:146333326-146333327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566440423	chr7:146333375-146333376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141655984	chr7:146333395-146333396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62481812	chr7:146333401-146333402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374480424	chr7:146333415-146333416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs344447	chr7:146333423-146333424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17170206	chr7:146333424-146333425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142333385	chr7:146333472-146333473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554779776	chr7:146333477-146333478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373214428	chr7:146333479-146333480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370614081	chr7:146333482-146333483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537241312	chr7:146333484-146333485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576777832	chr7:146333497-146333498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147138452	chr7:146333515-146333516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562830539	chr7:146333557-146333558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372862111	chr7:146333593-146333594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528249686	chr7:146333627-146333628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73739188	chr7:146333635-146333636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75455588	chr7:146333675-146333676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562302908	chr7:146333690-146333691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117350654	chr7:146333709-146333710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187717128	chr7:146333779-146333780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561824107	chr7:146333797-146333798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529144074	chr7:146333804-146333805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs207468744	chr7:146333870-146333871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538935522	chr7:146333894-146333895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17170207	chr7:146333943-146333944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552198599	chr7:146333970-146333971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Epilepsy	20502679	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	21163964	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146331200-146334200	Enhancers	Brain Germinal Matrix	brain
2	chr7:146331600-146333200	Weak transcription	Fetal Brain Male	brain
3	chr7:146332000-146333200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:146332200-146333200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:146332200-146333400	Enhancers	Fetal Thymus	thymus
6	chr7:146332400-146333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:146332400-146333000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:146332400-146333200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:146332400-146333200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:146332400-146333200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:146332400-146333200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:146332600-146333200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:146332600-146333400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:146332800-146333200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:146333000-146333400	Enhancers	Thymus	Thymus
16	chr7:146333000-146333800	Enhancers	Fetal Kidney	kidney
17	chr7:146333200-146334000	Enhancers	Fetal Brain Male	brain
18	chr7:146333200-146334000	Enhancers	Fetal Stomach	stomach
19	chr7:146333200-146334800	Enhancers	Fetal Lung	lung
20	chr7:146333400-146338200	Weak transcription	Fetal Thymus	thymus
21	chr7:146338200-146338800	Enhancers	Fetal Thymus	thymus
22	chr7:146338800-146342200	Weak transcription	Fetal Thymus	thymus
23	chr7:146342200-146343200	Enhancers	Fetal Thymus	thymus
24	chr7:146342400-146342600	Enhancers	Pancreas	Pancrea
25	chr7:146342400-146342600	Enhancers	Thymus	Thymus
26	chr7:146342400-146343400	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:146342400-146343400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:146342400-146345400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:146342600-146345200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:146342800-146344000	Weak transcription	Pancreas	Pancrea
31	chr7:146343200-146343400	Enhancers	Thymus	Thymus
32	chr7:146343200-146343600	Weak transcription	Fetal Thymus	thymus
33	chr7:146343400-146348800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:146343600-146345200	Enhancers	Fetal Thymus	thymus
35	chr7:146344000-146344200	Enhancers	Pancreas	Pancrea
36	chr7:146344200-146345000	Weak transcription	Pancreas	Pancrea
37	chr7:146345000-146345200	Enhancers	Pancreas	Pancrea
38	chr7:146345200-146348400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:146345200-146353200	Weak transcription	Fetal Thymus	thymus
40	chr7:146345400-146348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:146348200-146352800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:146348400-146355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:146348600-146355000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr7:146348800-146350400	Enhancers	Primary hematopoietic stem cells	blood
45	chr7:146350000-146351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:146350400-146351400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:146350800-146351600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:146350800-146351600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:146351000-146351200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:146351200-146351400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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