Variant report

Variant	nsv466418
Chromosome Location	chr9:73757570-73768548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 313 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4744622	chr9:73757570-73757571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116320013	chr9:73757617-73757618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149463512	chr9:73757627-73757628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576662967	chr9:73757629-73757630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7856339	chr9:73757632-73757633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373832497	chr9:73757666-73757667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370924442	chr9:73757667-73757668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559070450	chr9:73757787-73757788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529746799	chr9:73757802-73757803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548230935	chr9:73757811-73757812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147134607	chr9:73757830-73757831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530495612	chr9:73757833-73757834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183180098	chr9:73757863-73757864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200102949	chr9:73757897-73757898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398010872	chr9:73757909-73757910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74398837	chr9:73757910-73757911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368510596	chr9:73757946-73757947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138965224	chr9:73757951-73757952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539262935	chr9:73757972-73757973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11791062	chr9:73758009-73758010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11794936	chr9:73758030-73758031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74564567	chr9:73758038-73758039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374648276	chr9:73758049-73758050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79835815	chr9:73758050-73758051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536351099	chr9:73758062-73758063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367860722	chr9:73758164-73758165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529797697	chr9:73758169-73758170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555019196	chr9:73758184-73758185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142883980	chr9:73758312-73758313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147417686	chr9:73758326-73758327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558453624	chr9:73758359-73758360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372043474	chr9:73758374-73758375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201242229	chr9:73758467-73758468	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs113778958	chr9:73758479-73758480	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs540870851	chr9:73758521-73758522	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs141715641	chr9:73758541-73758542	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs574526209	chr9:73758551-73758552	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs541579320	chr9:73758608-73758609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563359625	chr9:73758631-73758632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530456626	chr9:73758638-73758639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13284794	chr9:73758673-73758674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1964051	chr9:73758677-73758678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532845546	chr9:73758708-73758709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548069042	chr9:73758717-73758718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372650917	chr9:73758764-73758765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59726904	chr9:73758810-73758811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530279839	chr9:73758829-73758830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369916564	chr9:73758842-73758843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548427085	chr9:73758846-73758847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570111867	chr9:73758868-73758869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73740400-73758400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73758400-73758600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:73758400-73758600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
4	chr9:73758400-73758600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
5	chr9:73758400-73758600	ZNF genes & repeats	Brain Hippocampus Middle	brain
6	chr9:73758400-73758600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
7	chr9:73758600-73759000	Weak transcription	Liver	Liver
8	chr9:73758600-73764600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:73759000-73761800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr9:73759000-73762000	Enhancers	HUVEC	blood vessel
11	chr9:73759000-73762800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:73759200-73759400	Enhancers	Primary hematopoietic stem cells	blood
13	chr9:73759200-73760000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:73759600-73760400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:73759600-73760800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:73759800-73760600	Enhancers	Fetal Lung	lung
17	chr9:73759800-73762200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:73760000-73760200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:73760000-73760400	Enhancers	Fetal Heart	heart
20	chr9:73760000-73760400	Enhancers	Fetal Intestine Small	intestine
21	chr9:73760000-73763000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:73760200-73760400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:73760200-73762000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:73760400-73760600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:73760400-73761400	Weak transcription	Fetal Heart	heart
26	chr9:73760400-73762000	Weak transcription	Fetal Intestine Small	intestine
27	chr9:73760600-73762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:73760800-73762600	Enhancers	Primary hematopoietic stem cells	blood
29	chr9:73761400-73761800	Enhancers	NHEK	skin
30	chr9:73761400-73762200	Enhancers	Fetal Intestine Large	intestine
31	chr9:73761400-73762800	Enhancers	Fetal Heart	heart
32	chr9:73762000-73762200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:73762000-73762400	Enhancers	Fetal Intestine Small	intestine
34	chr9:73762200-73762800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:73762200-73762800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:73762400-73762800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr9:73762800-73764200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:73766400-73766600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr9:73766600-73767200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:73767200-73768000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links