Variant report

Variant	esv1831194
Chromosome Location	chr9:18355044-18369216
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	ATF2	chr9:18366112-18366540	GM12878	blood:	n/a	n/a
2	BHLHE40	chr9:18366277-18366484	GM12878	blood:	n/a	n/a
3	CEBPB	chr9:18358312-18358647	IMR90	lung:	n/a	n/a
4	CTCF	chr9:18361896-18361994	Medullo	brain:	n/a	n/a
5	CUX1	chr9:18361820-18361831	GM12878	blood:	n/a	n/a
6	EP300	chr9:18360017-18360387	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr9:18366328-18366444	GM12878	blood:	n/a	chr9:18366381-18366395
8	EP300	chr9:18366315-18366454	GM12878	blood:	n/a	chr9:18366381-18366395
9	EP300	chr9:18359292-18359828	SK-N-SH	brain:	n/a	chr9:18359654-18359668
10	FOS	chr9:18358446-18358703	MCF10A-Er-Src	breast:	n/a	chr9:18358552-18358563
11	FOS	chr9:18359216-18360297	HUVEC	blood vessel:	n/a	chr9:18359512-18359520 chr9:18359617-18359626 chr9:18359822-18359831 chr9:18359826-18359835 chr9:18359823-18359832
12	FOS	chr9:18359461-18359663	MCF10A-Er-Src	breast:	n/a	chr9:18359512-18359520 chr9:18359617-18359626
13	FOS	chr9:18358345-18358781	HUVEC	blood vessel:	n/a	chr9:18358552-18358563
14	FOS	chr9:18359431-18359694	MCF10A-Er-Src	breast:	n/a	chr9:18359512-18359520 chr9:18359617-18359626
15	FOS	chr9:18359416-18359712	MCF10A-Er-Src	breast:	n/a	chr9:18359512-18359520 chr9:18359617-18359626
16	FOSL2	chr9:18359302-18359808	SK-N-SH	brain:	n/a	chr9:18359512-18359520 chr9:18359617-18359626
17	GATA2	chr9:18359258-18360367	HUVEC	blood vessel:	n/a	n/a
18	GATA3	chr9:18359265-18359857	SK-N-SH	brain:	n/a	n/a
19	GATA3	chr9:18366955-18367559	SK-N-SH	brain:	n/a	chr9:18367361-18367377 chr9:18367366-18367373 chr9:18367366-18367373 chr9:18367366-18367373
20	GATA3	chr9:18363207-18363868	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr9:18359236-18360334	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr9:18363092-18363964	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr9:18367062-18367511	SK-N-SH	brain:	n/a	chr9:18367361-18367377 chr9:18367366-18367373 chr9:18367366-18367373 chr9:18367366-18367373
24	IRF3	chr9:18366337-18366444	GM12878	blood:	n/a	chr9:18366376-18366390 chr9:18366378-18366398 chr9:18366380-18366394
25	JUN	chr9:18359323-18359763	HUVEC	blood vessel:	n/a	chr9:18359512-18359520 chr9:18359617-18359626
26	JUN	chr9:18358420-18358726	HUVEC	blood vessel:	n/a	n/a
27	KAP1	chr9:18360104-18360382	U2OS	brain:	n/a	n/a
28	MAFF	chr9:18355362-18355540	HepG2	liver:	n/a	chr9:18355399-18355417
29	MAFK	chr9:18355292-18355506	HepG2	liver:	n/a	n/a
30	MEF2A	chr9:18366112-18366591	GM12878	blood:	n/a	chr9:18366365-18366376 chr9:18366363-18366379 chr9:18366124-18366138 chr9:18366363-18366378 chr9:18366364-18366379 chr9:18366363-18366380 chr9:18366363-18366378
31	MEF2A	chr9:18366194-18366506	GM12878	blood:	n/a	chr9:18366365-18366376 chr9:18366363-18366379 chr9:18366363-18366378 chr9:18366364-18366379 chr9:18366363-18366380 chr9:18366363-18366378
32	MEF2C	chr9:18366108-18366570	GM12878	blood:	n/a	chr9:18366365-18366376 chr9:18366363-18366379 chr9:18366364-18366379 chr9:18366124-18366138 chr9:18366363-18366378 chr9:18366364-18366379 chr9:18366363-18366380 chr9:18366363-18366378
33	MTA3	chr9:18366177-18366569	GM12878	blood:	n/a	n/a
34	NFIC	chr9:18366055-18366602	GM12878	blood:	n/a	n/a
35	NFIC	chr9:18359236-18359795	SK-N-SH	brain:	n/a	n/a
36	NFIC	chr9:18363050-18363823	SK-N-SH	brain:	n/a	n/a
37	PBX3	chr9:18363308-18363850	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr9:18359906-18360652	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr9:18359854-18360347	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr9:18359815-18360511	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr9:18358350-18358972	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr9:18358411-18359757	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr9:18359347-18359722	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr9:18358963-18359807	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr9:18358827-18358908	ProgFib	skin:	n/a	n/a
46	POLR2A	chr9:18364788-18364860	A549	lung:	n/a	n/a
47	POLR2A	chr9:18359034-18359058	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr9:18365717-18365725	ProgFib	skin:	n/a	n/a
49	POLR2A	chr9:18359985-18360461	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr9:18359963-18359968	ProgFib	skin:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM154A-2	chr9:18362081-18362218	XLOC_007653
2	lnc-FAM154A-2	chr9:18360595-18360693	XLOC_007653

Variant related genes	Relation type
ENSG00000227167	TF binding region
CPPED1	miRNA target sites
CRAMP1L	miRNA target sites

Extended variants
information (count: 587 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:587 , 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	rs7861774	chr9:18355044-18355045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549757249	chr9:18355058-18355059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143004658	chr9:18355147-18355148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370872953	chr9:18355195-18355196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530174318	chr9:18355225-18355226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7862005	chr9:18355258-18355259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs569980030	chr9:18355283-18355284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532453738	chr9:18355300-18355301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148197341	chr9:18355321-18355322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553186953	chr9:18355340-18355341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536954406	chr9:18355378-18355379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571118605	chr9:18355415-18355416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183128263	chr9:18355432-18355433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535102788	chr9:18355490-18355491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553652207	chr9:18355507-18355508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187894993	chr9:18355547-18355548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548556024	chr9:18355564-18355565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535232753	chr9:18355595-18355596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371059578	chr9:18355606-18355607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190952416	chr9:18355614-18355615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144061841	chr9:18355689-18355690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58028330	chr9:18355765-18355766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147332756	chr9:18355911-18355912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370440549	chr9:18355922-18355923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540125532	chr9:18355935-18355936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561766777	chr9:18355941-18355942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188228916	chr9:18355958-18355959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140907607	chr9:18355969-18355970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528624953	chr9:18355986-18355987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12345229	chr9:18356091-18356092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115368170	chr9:18356092-18356093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192554851	chr9:18356094-18356095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143257635	chr9:18356121-18356122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201877760	chr9:18356144-18356145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528836940	chr9:18356210-18356211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184186954	chr9:18356222-18356223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568580934	chr9:18356237-18356238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571642433	chr9:18356261-18356262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10810958	chr9:18356268-18356269	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550410445	chr9:18356298-18356299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371927710	chr9:18356319-18356320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371974542	chr9:18356462-18356463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539144164	chr9:18356497-18356498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76584174	chr9:18356505-18356506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10810959	chr9:18356508-18356509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533862866	chr9:18356557-18356558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555609669	chr9:18356561-18356562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187414862	chr9:18356572-18356573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374756090	chr9:18356602-18356603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67090987	chr9:18356603-18356604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
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
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
Chronic myeloid leukemia	21384125	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
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18333400-18368200	Weak transcription	Aorta	Aorta
2	chr9:18346600-18362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:18347600-18360400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:18348200-18357400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:18350400-18356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:18351800-18361600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:18352000-18358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:18356000-18356200	Weak transcription	HSMMtube	muscle
9	chr9:18356000-18356400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:18356400-18363200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:18356800-18358600	Enhancers	HUVEC	blood vessel
12	chr9:18357400-18357600	Enhancers	Primary B cells from cord blood	blood
13	chr9:18357400-18364200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:18358000-18364200	Enhancers	NHDF-Ad	bronchial
15	chr9:18358000-18364400	Enhancers	Osteobl	bone
16	chr9:18358400-18360800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:18358600-18359200	Enhancers	NH-A	brain
18	chr9:18358600-18360200	Flanking Active TSS	HUVEC	blood vessel
19	chr9:18358600-18360600	Enhancers	HSMM	muscle
20	chr9:18358600-18361000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:18358800-18360400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:18358800-18360600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:18358800-18362600	Weak transcription	Primary B cells from cord blood	blood
24	chr9:18359000-18359200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:18359200-18359400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:18359200-18359400	Weak transcription	Fetal Heart	heart
27	chr9:18359200-18359400	Flanking Active TSS	NH-A	brain
28	chr9:18359200-18359800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:18359400-18360000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:18359400-18360600	Enhancers	NH-A	brain
31	chr9:18359400-18361000	Enhancers	NHLF	lung
32	chr9:18359400-18362000	Enhancers	Fetal Heart	heart
33	chr9:18359800-18360400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:18359800-18363000	Weak transcription	HSMMtube	muscle
35	chr9:18360000-18360400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:18360000-18360400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:18360000-18360400	Enhancers	Colon Smooth Muscle	Colon
38	chr9:18360000-18360400	Enhancers	HMEC	breast
39	chr9:18360000-18360600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:18360000-18360800	Enhancers	Primary hematopoietic stem cells	blood
41	chr9:18360000-18364000	Enhancers	Fetal Lung	lung
42	chr9:18360200-18361600	Enhancers	HUVEC	blood vessel
43	chr9:18360400-18360800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:18360400-18361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:18360400-18361600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:18360400-18361800	Weak transcription	Colon Smooth Muscle	Colon
47	chr9:18360400-18363000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:18360600-18361800	Weak transcription	HSMM	muscle
49	chr9:18360600-18362400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:18360600-18362800	Weak transcription	NH-A	brain

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