Variant report

Variant	nsv608932
Chromosome Location	chr7:146189652-146244207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
2	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
3	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
4	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
5	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
6	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
7	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
8	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
9	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:

No data

Extended variants
information (count: 1260 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1260 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190594101	chr7:146191848-146191849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544573632	chr7:146191891-146191892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547105420	chr7:146191927-146191928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147372781	chr7:146191942-146191943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182932365	chr7:146191945-146191946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557808849	chr7:146191946-146191947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561077810	chr7:146191957-146191958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529807840	chr7:146191990-146191991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568479867	chr7:146191992-146191993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200700372	chr7:146192033-146192034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139477523	chr7:146192035-146192036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538949753	chr7:146192077-146192078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552533096	chr7:146192078-146192079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569272769	chr7:146192156-146192157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187838253	chr7:146192199-146192200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377550741	chr7:146192211-146192212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192607836	chr7:146192212-146192213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534106257	chr7:146192227-146192228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553963673	chr7:146192237-146192238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570639022	chr7:146192247-146192248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183031711	chr7:146192257-146192258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562887863	chr7:146192258-146192259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575119762	chr7:146192288-146192289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544203594	chr7:146192318-146192319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73741713	chr7:146192368-146192369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529817130	chr7:146192385-146192386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187656264	chr7:146192387-146192388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534681517	chr7:146192406-146192407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57224759	chr7:146192407-146192408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193166908	chr7:146192419-146192420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184571697	chr7:146192429-146192430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149868953	chr7:146192444-146192445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552491978	chr7:146192463-146192464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189941265	chr7:146192471-146192472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144148557	chr7:146192556-146192557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577669139	chr7:146192605-146192606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373962020	chr7:146192645-146192646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76945859	chr7:146192662-146192663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77495879	chr7:146192663-146192664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78390523	chr7:146192664-146192665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548588394	chr7:146192671-146192672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568430521	chr7:146192672-146192673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569927411	chr7:146192687-146192688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537381562	chr7:146192711-146192712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs700280	chr7:146192758-146192759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553880007	chr7:146192832-146192833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570705181	chr7:146192849-146192850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192197318	chr7:146192850-146192851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148703190	chr7:146192869-146192870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs700281	chr7:146192877-146192878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
Attention deficit hyperactivity disorder	19546859	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146191800-146193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:146206400-146207200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:146207000-146207600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr7:146207600-146215800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:146214200-146214800	Active TSS	Fetal Heart	heart
6	chr7:146215800-146216600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:146215800-146217000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:146216000-146216400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:146216000-146216600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:146216000-146216800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:146216200-146216800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:146223400-146223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:146223800-146225800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:146225600-146226000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:146225600-146226800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:146225800-146226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:146226800-146229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:146229400-146229800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:146231400-146242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:146235400-146235600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:146235600-146236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:146236200-146237800	Enhancers	Fetal Kidney	kidney
23	chr7:146236600-146237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:146238800-146239400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:146239000-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:146239200-146239400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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