Variant report

Variant	nsv608900
Chromosome Location	chr7:144770396-144788726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 264 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180767944	chr7:144777609-144777610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554527646	chr7:144777637-144777638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185215587	chr7:144777655-144777656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541348936	chr7:144777691-144777692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77467253	chr7:144777701-144777702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192139664	chr7:144777735-144777736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545642734	chr7:144778825-144778826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563678892	chr7:144778920-144778921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376018198	chr7:144778947-144778948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542647512	chr7:144778981-144778982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560963988	chr7:144779047-144779048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528559266	chr7:144779107-144779108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369391079	chr7:144779132-144779133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560880990	chr7:144779135-144779136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74672467	chr7:144779182-144779183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565052517	chr7:144779222-144779223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35615571	chr7:144779237-144779238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187671638	chr7:144779248-144779249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550892936	chr7:144779250-144779251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148319174	chr7:144779264-144779265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536236329	chr7:144779294-144779295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56326333	chr7:144779295-144779296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566366145	chr7:144779297-144779298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533835975	chr7:144779325-144779326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141487176	chr7:144779326-144779327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578116401	chr7:144779381-144779382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80334766	chr7:144779421-144779422	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs193208440	chr7:144779498-144779499	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185591826	chr7:144779520-144779521	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531178334	chr7:144779521-144779522	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs58465966	chr7:144779585-144779586	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs543701615	chr7:144779617-144779618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs567213099	chr7:144779647-144779648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540715613	chr7:144779667-144779668	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565285963	chr7:144779725-144779726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564990917	chr7:144779761-144779762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189222962	chr7:144779766-144779767	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111531524	chr7:144779782-144779783	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192091690	chr7:144779828-144779829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529986318	chr7:144779846-144779847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs71528965	chr7:144779881-144779882	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs548504520	chr7:144779886-144779887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368825505	chr7:144779905-144779906	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs118114357	chr7:144779909-144779910	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs527335841	chr7:144779963-144779964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs386718886	chr7:144779983-144779984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570488046	chr7:144779993-144779994	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184445293	chr7:144780008-144780009	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557105555	chr7:144780009-144780010	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374289744	chr7:144780050-144780051	Flanking Active TSS Weak transcription Enhancers	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144777600-144777800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:144778800-144779400	Enhancers	Dnd41	blood
3	chr7:144779200-144779600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr7:144779200-144779600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:144779200-144779600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:144779200-144779800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:144779200-144780000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:144779200-144780400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:144779200-144780400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:144779200-144780600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:144779200-144780800	Enhancers	HMEC	breast
12	chr7:144779400-144779600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:144779400-144780200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:144779400-144780600	Flanking Active TSS	Dnd41	blood
15	chr7:144779400-144780800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:144779600-144780000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:144779600-144780000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:144779600-144780200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr7:144779600-144780400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:144779600-144780400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:144779600-144782000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:144779800-144780200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:144779800-144780200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:144779800-144780200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:144779800-144780400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:144779800-144780400	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:144779800-144780400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:144779800-144780600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:144780000-144780200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:144780000-144780400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:144780000-144780400	Enhancers	GM12878-XiMat	blood
32	chr7:144780000-144780600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:144780000-144780800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:144780200-144780400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:144780200-144780400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:144780200-144782200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:144780400-144780600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:144780400-144780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:144780400-144781600	Weak transcription	Fetal Muscle Leg	muscle
40	chr7:144780400-144785400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:144780600-144780800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:144780600-144781200	Enhancers	Dnd41	blood
43	chr7:144780600-144782200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:144780800-144781800	Weak transcription	HMEC	breast
45	chr7:144780800-144782000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:144781200-144781600	Weak transcription	Dnd41	blood
47	chr7:144781600-144782200	Enhancers	Dnd41	blood
48	chr7:144781800-144782000	Enhancers	Fetal Muscle Leg	muscle
49	chr7:144781800-144782000	Enhancers	HMEC	breast
50	chr7:144782000-144782600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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