Variant report

Variant	esv1841089
Chromosome Location	chr9:22666462-22680915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr9:22669815-22669872	Hela-S3	cervix:	n/a	n/a
2	NFYA	chr9:22668235-22668410	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:22667579-22667860	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr9:22672499-22672658	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr9:22669062-22669260	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF143	chr9:22669275-22669563	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr9:22673461-22673473	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-1	chr9:22674434-22674694	NONHSAT130441
2	lnc-DMRTA1-2	chr9:22674442-22674642	ENSG00000234840.1
3	lnc-DMRTA1-10	chr9:22672609-22672712	l_3742_chr9:22664441-22713435_adipose
4	lnc-DMRTA1-1	chr9:22674481-22674642	NONHSAT130443

No data

Variant related genes	Relation type
ENSG00000234840	TF binding region

Extended variants
information (count: 589 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185433880	chr9:22666469-22666470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs5896995	chr9:22666526-22666527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35713803	chr9:22666535-22666536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142985618	chr9:22666541-22666542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571268887	chr9:22666549-22666550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533524634	chr9:22666580-22666581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554079632	chr9:22666594-22666595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574009991	chr9:22666626-22666627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557269835	chr9:22666661-22666662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556721898	chr9:22666686-22666687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576521609	chr9:22666709-22666710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189203073	chr9:22666747-22666748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565229000	chr9:22666754-22666755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192865461	chr9:22666755-22666756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117366445	chr9:22666843-22666844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs671458	chr9:22666900-22666901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561228440	chr9:22666916-22666917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116788124	chr9:22666921-22666922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549250592	chr9:22666928-22666929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184718540	chr9:22666977-22666978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577393289	chr9:22667057-22667058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551483037	chr9:22667058-22667059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376886655	chr9:22667095-22667096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533608670	chr9:22667099-22667100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143267077	chr9:22667106-22667107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375396030	chr9:22667107-22667108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188648662	chr9:22667109-22667110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374804271	chr9:22667125-22667126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371561003	chr9:22667203-22667204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1020463	chr9:22667225-22667226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375366664	chr9:22667226-22667227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536560566	chr9:22667236-22667237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181121435	chr9:22667252-22667253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576622884	chr9:22667282-22667283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146457976	chr9:22667302-22667303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554246740	chr9:22667323-22667324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538834389	chr9:22667333-22667334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146113346	chr9:22667347-22667348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530278203	chr9:22667359-22667360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572584376	chr9:22667386-22667387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74484649	chr9:22667389-22667390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7853729	chr9:22667399-22667400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574842994	chr9:22667406-22667407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374678748	chr9:22667501-22667502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376481630	chr9:22667525-22667526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562619764	chr9:22667576-22667577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545962316	chr9:22667583-22667584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73446540	chr9:22667608-22667609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551302662	chr9:22667633-22667634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76523483	chr9:22667643-22667644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22661400-22670600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:22664600-22667200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:22667200-22667400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:22667400-22668000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:22668000-22668200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:22668800-22671000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:22669400-22669600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr9:22669600-22672000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:22670600-22672000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:22671000-22680800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:22671200-22672200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:22671800-22672600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr9:22671800-22673000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:22672000-22672800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:22672000-22672800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr9:22672000-22673000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:22672000-22673200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:22672000-22676400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:22672200-22673000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:22672200-22674600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:22674600-22678000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:22675200-22682800	Weak transcription	Liver	Liver
23	chr9:22676400-22678400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:22678000-22681000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:22678400-22682000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:22679000-22687800	Weak transcription	Pancreas	Pancrea
27	chr9:22680800-22681600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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