Variant report

Variant	esv3429264
Chromosome Location	chr9:21318302-21321050
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	ARID3A	chr9:21318485-21318626	HepG2	liver:	n/a	n/a
2	BHLHE40	chr9:21318322-21318601	GM12878	blood:	n/a	n/a
3	CTCF	chr9:21318660-21318810	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr9:21318180-21318330	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr9:21318400-21318550	WERI-Rb-1	eye:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
6	CTCF	chr9:21318361-21318522	GM20000	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
7	CTCF	chr9:21317947-21318977	SK-N-SH	brain:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
8	CTCF	chr9:21318330-21318647	T-47D	breast:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
9	CTCF	chr9:21318420-21318570	Hela-S3	cervix:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
10	CTCF	chr9:21318310-21318554	H1-hESC	embryonic stem cell:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
11	CTCF	chr9:21318440-21318590	SAEC	small airway:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
12	CTCF	chr9:21319462-21319510	A549	lung:	n/a	n/a
13	CTCF	chr9:21318420-21318570	HRE	kidney:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
14	CTCF	chr9:21318480-21318630	HFF-Myc	foreskin:	n/a	n/a
15	CTCF	chr9:21318400-21318550	AG09309	skin:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
16	CTCF	chr9:21318351-21318591	GM10266	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
17	CTCF	chr9:21318187-21318716	MCF-7	breast:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
18	CTCF	chr9:21318400-21318550	HFF-Myc	foreskin:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
19	CTCF	chr9:21318400-21318550	Caco-2	colon:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
20	CTCF	chr9:21318365-21318580	MCF-7	breast:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
21	CTCF	chr9:21318280-21318430	A549	lung:	n/a	n/a
22	CTCF	chr9:21318400-21318550	GM12869	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
23	CTCF	chr9:21318400-21318550	HUVEC	blood vessel:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
24	CTCF	chr9:21318620-21318770	A549	lung:	n/a	n/a
25	CTCF	chr9:21318420-21318570	HA-sp	spinal cord:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
26	CTCF	chr9:21318400-21318550	GM12867	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
27	CTCF	chr9:21318335-21318676	A549	lung:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
28	CTCF	chr9:21318135-21319004	A549	lung:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
29	CTCF	chr9:21318420-21318570	Caco-2	colon:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
30	CTCF	chr9:21318289-21318562	SK-N-SH_RA	brain:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
31	CTCF	chr9:21318380-21318530	GM12868	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
32	CTCF	chr9:21318420-21318570	GM12878	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
33	CTCF	chr9:21318400-21318550	BE2_C	brain:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
34	CTCF	chr9:21318420-21318570	HVMF	connective:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
35	CTCF	chr9:21318420-21318570	WERI-Rb-1	eye:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
36	CTCF	chr9:21318334-21318608	Spleen_OC	spleen:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
37	CTCF	chr9:21318400-21318550	HL-60	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
38	CTCF	chr9:21318800-21318950	HVMF	connective:	n/a	n/a
39	CTCF	chr9:21318400-21318550	GM12873	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
40	CTCF	chr9:21318351-21318579	LNCaP	prostate:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
41	CTCF	chr9:21318440-21318590	GM12864	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
42	CTCF	chr9:21318363-21318592	Kidney_OC	kidney:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
43	CTCF	chr9:21318420-21318570	HRPEpiC	eye:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
44	CTCF	chr9:21318400-21318550	GM12866	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
45	CTCF	chr9:21318420-21318570	HCFaa	heart:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
46	CTCF	chr9:21318440-21318590	HBMEC	blood vessel:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
47	CTCF	chr9:21318480-21318630	WI-38	lung:	n/a	n/a
48	CTCF	chr9:21318400-21318550	GM12865	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
49	CTCF	chr9:21318400-21318550	NHLF	lung:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484
50	CTCF	chr9:21318380-21318530	GM12867	blood:	n/a	chr9:21318469-21318485 chr9:21318468-21318486 chr9:21318470-21318491 chr9:21318471-21318484

No.	Distal block	Cell Line	Cell type
1	chr9:21317987..21318804-chr9:21455380..21456013,2	MCF-7	breast:
2	chr9:21317956..21318799-chr9:21455067..21455992,4	MCF-7	breast:
3	chr9:21253305..21254010-chr9:21318409..21318973,2	MCF-7	breast:
4	chr9:21318010..21319069-chr9:21395893..21396720,4	MCF-7	breast:
5	chr9:21318056..21318697-chrX:104999680..105000200,2	MCF-7	breast:
6	chr9:21318068..21318780-chr9:21789413..21789937,2	MCF-7	breast:

Variant related genes	Relation type
IFNA20P	TF binding region
ENSG00000261696	chromatin interactions
ENSG00000238271	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6475533	chr9:21318360-21318361	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10964966	chr9:21318386-21318387	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs539820665	chr9:21318427-21318428	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560783808	chr9:21318464-21318465	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs191835476	chr9:21318507-21318508	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs112078233	chr9:21318529-21318530	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561452378	chr9:21318561-21318562	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs12235234	chr9:21318590-21318591	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372746635	chr9:21318606-21318607	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201740755	chr9:21318620-21318621	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs376597820	chr9:21318621-21318622	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs78251419	chr9:21318623-21318624	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs78575956	chr9:21318624-21318625	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201865532	chr9:21318629-21318630	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs571451554	chr9:21318641-21318642	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs200738310	chr9:21318644-21318645	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs561853785	chr9:21318710-21318711	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs186796379	chr9:21318733-21318734	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs367812326	chr9:21318765-21318766	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs563913527	chr9:21318811-21318812	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146595167	chr9:21318828-21318829	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs193014607	chr9:21318830-21318831	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1467734	chr9:21318832-21318833	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs72695795	chr9:21318892-21318893	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549168718	chr9:21318896-21318897	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs114542398	chr9:21318933-21318934	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs117574414	chr9:21318980-21318981	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558159877	chr9:21318986-21318987	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577954395	chr9:21319002-21319003	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185642777	chr9:21319010-21319011	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113149818	chr9:21319019-21319020	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141358598	chr9:21319020-21319021	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574229211	chr9:21319027-21319028	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542835796	chr9:21319077-21319078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559864953	chr9:21319144-21319145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573783836	chr9:21319147-21319148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575031863	chr9:21319197-21319198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543884459	chr9:21319239-21319240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116538660	chr9:21319257-21319258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117484491	chr9:21319268-21319269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118159688	chr9:21319269-21319270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560208511	chr9:21319296-21319297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190564786	chr9:21319301-21319302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117863399	chr9:21319404-21319405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145147696	chr9:21319408-21319409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193082491	chr9:21319425-21319426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551575214	chr9:21319564-21319565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79962127	chr9:21319582-21319583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113092321	chr9:21319644-21319645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116355000	chr9:21319651-21319652	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
Oral cancer	21386901	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
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
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	21525872	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Epilepsy	20502679	CNVD
Barrett''s syndrome	19417022	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21309800-21322600	Weak transcription	Brain Substantia Nigra	brain
2	chr9:21312200-21322000	Weak transcription	GM12878-XiMat	blood
3	chr9:21315000-21323000	Weak transcription	Thymus	Thymus
4	chr9:21316200-21318600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:21316200-21322800	Weak transcription	Fetal Lung	lung
6	chr9:21316400-21318800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:21316400-21319000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:21316400-21322800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:21316600-21321200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:21316600-21322600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:21316600-21322600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:21316600-21322800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:21316600-21322800	Weak transcription	Lung	lung
14	chr9:21316600-21323000	Weak transcription	Pancreas	Pancrea
15	chr9:21316600-21330600	Weak transcription	Small Intestine	intestine
16	chr9:21316800-21319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:21316800-21322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:21317000-21318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:21317000-21318600	Weak transcription	Adipose Nuclei	Adipose
20	chr9:21317000-21320400	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:21317000-21321200	Weak transcription	Primary B cells from cord blood	blood
22	chr9:21317000-21321200	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:21317000-21326800	Weak transcription	Hela-S3	cervix
24	chr9:21317200-21320600	Weak transcription	Liver	Liver
25	chr9:21317200-21322800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:21317200-21323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:21317200-21323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr9:21317200-21331600	Weak transcription	Esophagus	oesophagus
29	chr9:21317200-21331600	Weak transcription	Gastric	stomach
30	chr9:21317400-21321400	Weak transcription	Osteobl	bone
31	chr9:21317400-21323000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:21317600-21321600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr9:21317800-21319000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:21317800-21319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:21318000-21318400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:21318000-21318800	Enhancers	Brain Cingulate Gyrus	brain
37	chr9:21318000-21318800	Enhancers	NHEK	skin
38	chr9:21318000-21319000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr9:21318200-21318800	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:21318200-21321200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:21318200-21330000	Weak transcription	Brain Anterior Caudate	brain
42	chr9:21318200-21330400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:21318400-21318600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:21318400-21318600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr9:21318400-21319000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr9:21318400-21320000	Weak transcription	Primary T cells from cord blood	blood
47	chr9:21318600-21318800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:21318600-21318800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:21318600-21318800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:21318600-21318800	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links