Variant report

Variant	esv2761290
Chromosome Location	chr9:22724129-22784718
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	chr9:22776328-22776436	H1-hESC	embryonic stem cell:	n/a	chr9:22776409-22776418 chr9:22776407-22776418
2	CEBPB	chr9:22776252-22776563	IMR90	lung:	n/a	chr9:22776409-22776418 chr9:22776407-22776418
3	CEBPB	chr9:22766124-22766157	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr9:22776272-22776557	HepG2	liver:	n/a	chr9:22776409-22776418 chr9:22776407-22776418
5	CEBPB	chr9:22776317-22776520	A549	lung:	n/a	chr9:22776409-22776418 chr9:22776407-22776418
6	CTCF	chr9:22778405-22778427	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr9:22773047-22773120	Spleen_OC	spleen:	n/a	n/a
8	GATA3	chr9:22731896-22732130	MCF-7	breast:	n/a	n/a
9	MAFF	chr9:22739769-22740067	HepG2	liver:	n/a	chr9:22739900-22739918 chr9:22739899-22739913
10	MAFF	chr9:22766451-22766699	HepG2	liver:	n/a	chr9:22766593-22766611
11	MAFK	chr9:22766544-22766655	Hela-S3	cervix:	n/a	chr9:22766595-22766610
12	MAFK	chr9:22763062-22763162	IMR90	lung:	n/a	n/a
13	MAFK	chr9:22739733-22740076	HepG2	liver:	n/a	chr9:22739901-22739917 chr9:22739896-22739916 chr9:22739899-22739913 chr9:22739901-22739916 chr9:22739898-22739914
14	MAFK	chr9:22766484-22766677	IMR90	lung:	n/a	chr9:22766595-22766610
15	MAFK	chr9:22766491-22766741	HepG2	liver:	n/a	chr9:22766595-22766610
16	MAFK	chr9:22739758-22740050	IMR90	lung:	n/a	chr9:22739901-22739917 chr9:22739896-22739916 chr9:22739899-22739913 chr9:22739901-22739916 chr9:22739898-22739914
17	MAFK	chr9:22766439-22766762	HepG2	liver:	n/a	chr9:22766595-22766610
18	MAFK	chr9:22739773-22740039	HepG2	liver:	n/a	chr9:22739901-22739917 chr9:22739896-22739916 chr9:22739899-22739913 chr9:22739901-22739916 chr9:22739898-22739914
19	MYC	chr9:22764734-22764856	GM12878	blood:	n/a	n/a
20	NFYA	chr9:22741003-22741151	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:22775664-22775857	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr9:22773436-22773636	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr9:22779762-22779956	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr9:22773502-22774342	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr9:22773564-22774308	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr9:22766297-22766471	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr9:22764690-22764858	Gliobla	brain:	n/a	n/a
28	POLR2A	chr9:22755197-22755280	GM12878	blood:	n/a	n/a
29	REST	chr9:22773446-22774411	H1-neurons	neurons:	n/a	n/a
30	REST	chr9:22773302-22774514	H1-neurons	neurons:	n/a	n/a
31	SPI1	chr9:22759413-22759537	K562	blood:	n/a	n/a
32	SPI1	chr9:22736648-22736818	K562	blood:	n/a	n/a
33	SPI1	chr9:22759423-22759532	K562	blood:	n/a	n/a
34	SPI1	chr9:22759320-22759583	GM12891	blood:	n/a	n/a
35	SPI1	chr9:22759401-22759579	GM12891	blood:	n/a	n/a
36	SPI1	chr9:22759405-22759552	GM12878	blood:	n/a	n/a
37	STAT3	chr9:22782174-22782464	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr9:22777307-22777507	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr9:22778309-22778509	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr9:22724475-22724632	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr9:22751426-22751626	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-13	chr9:22757174-22757265	NONHSAT130448
2	lnc-DMRTA1-14	chr9:22754997-22755223	NONHSAT130447
3	lnc-DMRTA1-1	chr9:22767106-22768486	NONHSAT130449
4	lnc-DMRTA1-1	chr9:22767174-22767265	ENSG00000224549
5	lnc-DMRTA1-14	chr9:22764211-22764434	NONHSAT130447
6	lnc-DMRTA1-12	chr9:22728286-22728585	NONHSAT130446
7	lnc-DMRTA1-12	chr9:22725718-22725880	NONHSAT130446
8	lnc-DMRTA1-13	chr9:22757961-22758315	NONHSAT130448
9	lnc-DMRTA1-1	chr9:22767174-22767298	NONHSAT130443
10	lnc-DMRTA1-1	chr9:22767961-22768315	ENSG00000224549
11	lnc-DMRTA1-14	chr9:22759737-22759837	NONHSAT130447

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

Extended variants
information (count: 3079 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:3079 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117670445	chr9:22724165-22724166	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs595988	chr9:22724172-22724173	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577865267	chr9:22724186-22724187	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565595	chr9:22724188-22724189	Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs377186132	chr9:22724194-22724195	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374613747	chr9:22724226-22724227	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184668607	chr9:22724305-22724306	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573831162	chr9:22724316-22724317	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542763684	chr9:22724391-22724392	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556263219	chr9:22724399-22724400	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140361756	chr9:22724409-22724410	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544969311	chr9:22724419-22724420	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10965430	chr9:22724456-22724457	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546764506	chr9:22724459-22724460	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527978430	chr9:22724501-22724502	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541323594	chr9:22724558-22724559	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190022711	chr9:22724580-22724581	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180819952	chr9:22724614-22724615	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562218027	chr9:22724628-22724629	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529522964	chr9:22724645-22724646	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530204677	chr9:22724653-22724654	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549896739	chr9:22724664-22724665	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138344085	chr9:22724710-22724711	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569791754	chr9:22724723-22724724	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34743233	chr9:22724734-22724735	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551223427	chr9:22724765-22724766	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569474679	chr9:22724782-22724783	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185139546	chr9:22724814-22724815	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565893156	chr9:22724877-22724878	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs572910738	chr9:22724908-22724909	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534095428	chr9:22724913-22724914	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78532153	chr9:22724950-22724951	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs189848634	chr9:22724951-22724952	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529698318	chr9:22724968-22724969	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143827171	chr9:22724979-22724980	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs536437489	chr9:22725046-22725047	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556324757	chr9:22725050-22725051	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576204835	chr9:22725090-22725091	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs34936791	chr9:22725109-22725110	Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs689441	chr9:22725125-22725126	Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544023994	chr9:22725147-22725148	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs62572490	chr9:22725186-22725187	Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs561213255	chr9:22725255-22725256	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs530258785	chr9:22725263-22725264	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555442043	chr9:22725275-22725276	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147279417	chr9:22725277-22725278	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564089025	chr9:22725285-22725286	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs688581	chr9:22725295-22725296	Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs181833228	chr9:22725332-22725333	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186486593	chr9:22725333-22725334	Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22722200-22724200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr9:22723800-22725800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:22724000-22724200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:22724000-22724800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:22724800-22725400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:22725400-22725800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:22725800-22739800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:22725800-22801600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:22731200-22732200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:22731600-22732000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:22738800-22778800	Weak transcription	Liver	Liver
12	chr9:22739800-22740200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:22739800-22740600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:22740600-22742600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:22742600-22742800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:22749200-22749400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:22755000-22755400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:22763800-22803600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:22767600-22770200	Weak transcription	Adipose Nuclei	Adipose
20	chr9:22770400-22770800	Enhancers	Fetal Brain Male	brain
21	chr9:22770600-22771000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:22770800-22771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr9:22770800-22771200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:22771000-22773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:22771200-22773200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:22772800-22773000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:22773000-22774200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:22773200-22774200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr9:22773400-22774200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr9:22773400-22774400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:22773600-22774200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr9:22773800-22774200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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