Variant report

Variant	nsv931938
Chromosome Location	chr7:146698437-146754853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146728137..146729642-chr7:146730753..146732443,2	K562	blood:
2	chr7:146715781..146717659-chr7:146720196..146724156,3	K562	blood:
3	chr7:146728137..146729642-chr7:146730753..146732443,2	K562	blood:
4	chr7:146715781..146717659-chr7:146720196..146724156,3	K562	blood:

Extended variants
information (count: 790 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544213603	chr7:146705645-146705646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35013414	chr7:146705701-146705702	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569129614	chr7:146705702-146705703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537844128	chr7:146705704-146705705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552198103	chr7:146705720-146705721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190580993	chr7:146705732-146705733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139232583	chr7:146705734-146705735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142561537	chr7:146705738-146705739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531910471	chr7:146705789-146705790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534031394	chr7:146705856-146705857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553810368	chr7:146705858-146705859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538569990	chr7:146705885-146705886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577064594	chr7:146705920-146705921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543679098	chr7:146705921-146705922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182788641	chr7:146705941-146705942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187071182	chr7:146706023-146706024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111416964	chr7:146706054-146706055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556608694	chr7:146706074-146706075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564950628	chr7:146706104-146706105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150942193	chr7:146706136-146706137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542126419	chr7:146706145-146706146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560891653	chr7:146706231-146706232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7782438	chr7:146706235-146706236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192747957	chr7:146706238-146706239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560278114	chr7:146706239-146706240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532252702	chr7:146706250-146706251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552325974	chr7:146706263-146706264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374057552	chr7:146706305-146706306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562672976	chr7:146706351-146706352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184141161	chr7:146706372-146706373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189072447	chr7:146706380-146706381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193150461	chr7:146706385-146706386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182036547	chr7:146709247-146709248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577740211	chr7:146709252-146709253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576913971	chr7:146709253-146709254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371785635	chr7:146709287-146709288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150869291	chr7:146709330-146709331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111421865	chr7:146709333-146709334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574123692	chr7:146709336-146709337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370355164	chr7:146709337-146709338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111577384	chr7:146709343-146709344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543021316	chr7:146709347-146709348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386719042	chr7:146709357-146709358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553538543	chr7:146709385-146709386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142042664	chr7:146709400-146709401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12669124	chr7:146709413-146709414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35477378	chr7:146709441-146709442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369403502	chr7:146709464-146709465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574728447	chr7:146709504-146709505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545455105	chr7:146709527-146709528	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146705600-146706400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:146709200-146710000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:146710000-146711200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:146710400-146712600	Enhancers	Brain Germinal Matrix	brain
5	chr7:146710600-146712400	Enhancers	Fetal Heart	heart
6	chr7:146710600-146712600	Enhancers	Fetal Brain Male	brain
7	chr7:146710800-146711200	Enhancers	Brain Hippocampus Middle	brain
8	chr7:146710800-146712600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:146710800-146713000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:146711000-146713000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:146711200-146712000	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:146711200-146712400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:146712400-146715000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:146715000-146715400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:146715200-146715600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:146719200-146721000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:146719200-146721400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:146722200-146722400	Active TSS	HSMM	muscle
19	chr7:146722400-146722600	Flanking Active TSS	HSMM	muscle
20	chr7:146730800-146731600	Enhancers	Fetal Lung	lung
21	chr7:146731000-146731600	Enhancers	Ovary	ovary
22	chr7:146741800-146742800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:146742800-146744600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:146744800-146745000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:146746800-146747000	Enhancers	Fetal Kidney	kidney
26	chr7:146749000-146750400	Enhancers	Fetal Lung	lung
27	chr7:146749400-146749600	Enhancers	Fetal Kidney	kidney
28	chr7:146749600-146750200	Weak transcription	Fetal Kidney	kidney
29	chr7:146750200-146750400	Enhancers	Fetal Kidney	kidney
30	chr7:146750400-146753400	Weak transcription	Fetal Lung	lung
31	chr7:146751000-146751400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:146751000-146751400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:146751000-146751400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:146752600-146752800	Enhancers	Gastric	stomach
35	chr7:146753400-146753600	Enhancers	Fetal Lung	lung
36	chr7:146753600-146754200	Weak transcription	Fetal Lung	lung
37	chr7:146754200-146755200	Enhancers	Fetal Lung	lung
38	chr7:146754600-146755000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links