Variant report

Variant	nsv1019512
Chromosome Location	chr9:22733238-22771006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:22766124-22766157	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFF	chr9:22739769-22740067	HepG2	liver:	n/a	chr9:22739900-22739918 chr9:22739899-22739913
3	MAFF	chr9:22766451-22766699	HepG2	liver:	n/a	chr9:22766593-22766611
4	MAFK	chr9:22766439-22766762	HepG2	liver:	n/a	chr9:22766595-22766610
5	MAFK	chr9:22766544-22766655	Hela-S3	cervix:	n/a	chr9:22766595-22766610
6	MAFK	chr9:22739733-22740076	HepG2	liver:	n/a	chr9:22739901-22739917 chr9:22739896-22739916 chr9:22739899-22739913 chr9:22739901-22739916 chr9:22739898-22739914
7	MAFK	chr9:22739773-22740039	HepG2	liver:	n/a	chr9:22739901-22739917 chr9:22739896-22739916 chr9:22739899-22739913 chr9:22739901-22739916 chr9:22739898-22739914
8	MAFK	chr9:22766491-22766741	HepG2	liver:	n/a	chr9:22766595-22766610
9	MAFK	chr9:22766484-22766677	IMR90	lung:	n/a	chr9:22766595-22766610
10	MAFK	chr9:22739758-22740050	IMR90	lung:	n/a	chr9:22739901-22739917 chr9:22739896-22739916 chr9:22739899-22739913 chr9:22739901-22739916 chr9:22739898-22739914
11	MAFK	chr9:22763062-22763162	IMR90	lung:	n/a	n/a
12	MYC	chr9:22764734-22764856	GM12878	blood:	n/a	n/a
13	NFYA	chr9:22741003-22741151	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:22755197-22755280	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:22766297-22766471	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr9:22764690-22764858	Gliobla	brain:	n/a	n/a
17	SPI1	chr9:22759405-22759552	GM12878	blood:	n/a	n/a
18	SPI1	chr9:22759320-22759583	GM12891	blood:	n/a	n/a
19	SPI1	chr9:22759413-22759537	K562	blood:	n/a	n/a
20	SPI1	chr9:22736648-22736818	K562	blood:	n/a	n/a
21	SPI1	chr9:22759401-22759579	GM12891	blood:	n/a	n/a
22	SPI1	chr9:22759423-22759532	K562	blood:	n/a	n/a
23	STAT3	chr9:22751426-22751626	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-1	chr9:22767106-22768486	NONHSAT130449
2	lnc-DMRTA1-1	chr9:22767961-22768315	ENSG00000224549
3	lnc-DMRTA1-13	chr9:22757174-22757265	NONHSAT130448
4	lnc-DMRTA1-14	chr9:22759737-22759837	NONHSAT130447
5	lnc-DMRTA1-14	chr9:22754997-22755223	NONHSAT130447
6	lnc-DMRTA1-1	chr9:22767174-22767298	NONHSAT130443
7	lnc-DMRTA1-14	chr9:22764211-22764434	NONHSAT130447
8	lnc-DMRTA1-1	chr9:22767174-22767265	ENSG00000224549
9	lnc-DMRTA1-13	chr9:22757961-22758315	NONHSAT130448

Variant related genes	Relation type
ENSG00000236739	TF binding region
ENSG00000224549	TF binding region

Extended variants
information (count: 1977 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:1977 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555828	chr9:22733238-22733239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560965895	chr9:22733274-22733275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530029442	chr9:22733277-22733278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557883878	chr9:22733327-22733328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569056971	chr9:22733342-22733343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538101776	chr9:22733359-22733360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369618605	chr9:22733366-22733367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190966618	chr9:22733370-22733371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377334595	chr9:22733432-22733433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577397807	chr9:22733458-22733459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145242066	chr9:22733483-22733484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553434285	chr9:22733486-22733487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573608835	chr9:22733492-22733493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574972902	chr9:22733493-22733494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556854741	chr9:22733512-22733513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576675510	chr9:22733524-22733525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180976511	chr9:22733537-22733538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544467670	chr9:22733543-22733544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563066161	chr9:22733554-22733555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187375211	chr9:22733587-22733588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80032549	chr9:22733613-22733614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541165204	chr9:22733617-22733618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561206292	chr9:22733620-22733621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370818425	chr9:22733621-22733622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57360762	chr9:22733634-22733635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549899492	chr9:22733635-22733636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561133769	chr9:22733661-22733662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563651482	chr9:22733666-22733667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191194985	chr9:22733742-22733743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551664673	chr9:22733767-22733768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542069594	chr9:22733771-22733772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527460800	chr9:22733787-22733788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377088933	chr9:22733852-22733853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183384593	chr9:22733854-22733855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560121510	chr9:22733858-22733859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567239972	chr9:22733871-22733872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115353352	chr9:22733872-22733873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187421637	chr9:22733873-22733874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190704592	chr9:22733886-22733887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114214472	chr9:22733896-22733897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147601922	chr9:22733942-22733943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140501876	chr9:22733959-22733960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572337115	chr9:22733980-22733981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200966075	chr9:22734017-22734018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541225414	chr9:22734020-22734021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs473705	chr9:22734024-22734025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs78550302	chr9:22734025-22734026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117869691	chr9:22734046-22734047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563545525	chr9:22734115-22734116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs474628	chr9:22734126-22734127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22725800-22739800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:22725800-22801600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:22738800-22778800	Weak transcription	Liver	Liver
4	chr9:22739800-22740200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:22739800-22740600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:22740600-22742600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:22742600-22742800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:22749200-22749400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:22755000-22755400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:22763800-22803600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:22767600-22770200	Weak transcription	Adipose Nuclei	Adipose
12	chr9:22770400-22770800	Enhancers	Fetal Brain Male	brain
13	chr9:22770600-22771000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr9:22770800-22771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:22770800-22771200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:22771000-22773400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links