Variant report

Variant	esv32786
Chromosome Location	chr17:20219434-20294008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:713)
CpG islands
(count:733)
Chromatin interactive
region (count:1)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:20224178-20224437	K562	blood:	n/a	n/a
2	ATF3	chr17:20224059-20224450	H1-hESC	embryonic stem cell:	n/a	chr17:20224408-20224418 chr17:20224410-20224430 chr17:20224408-20224421 chr17:20224409-20224420 chr17:20224410-20224421 chr17:20224409-20224420 chr17:20224408-20224418 chr17:20224409-20224422 chr17:20224408-20224421 chr17:20224411-20224421 chr17:20224410-20224418 chr17:20224411-20224418 chr17:20224411-20224421 chr17:20224411-20224419 chr17:20224407-20224422
3	BATF	chr17:20268484-20268863	GM12878	blood:	n/a	n/a
4	BATF	chr17:20224099-20224508	GM12878	blood:	n/a	n/a
5	BATF	chr17:20243234-20243495	GM12878	blood:	n/a	n/a
6	BATF	chr17:20284594-20284865	GM12878	blood:	n/a	n/a
7	BATF	chr17:20268534-20268812	GM12878	blood:	n/a	n/a
8	BATF	chr17:20255920-20256169	GM12878	blood:	n/a	n/a
9	BATF	chr17:20248455-20248916	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:20224157-20224416	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20243128-20243463	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20268605-20268835	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20224116-20224588	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:20285598-20285614	K562	blood:	n/a	n/a
15	BRCA1	chr17:20224169-20224376	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr17:20224258-20224346	HepG2	liver:	n/a	n/a
17	CBX3	chr17:20224068-20224528	K562	blood:	n/a	n/a
18	CBX3	chr17:20224147-20224397	K562	blood:	n/a	n/a
19	CEBPB	chr17:20224250-20224356	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr17:20224268-20224483	A549	lung:	n/a	n/a
21	CEBPB	chr17:20243142-20243450	K562	blood:	n/a	n/a
22	CEBPB	chr17:20243697-20243977	K562	blood:	n/a	chr17:20243922-20243935
23	CEBPB	chr17:20243203-20243389	K562	blood:	n/a	n/a
24	CEBPB	chr17:20243727-20243984	K562	blood:	n/a	chr17:20243922-20243935
25	CEBPB	chr17:20219243-20219598	ECC-1	luminal epithelium:	n/a	n/a
26	CREB1	chr17:20224078-20224602	A549	lung:	n/a	chr17:20224408-20224421
27	CTCF	chr17:20224260-20224410	GM06990	blood:	n/a	n/a
28	CTCF	chr17:20285356-20285467	GM12891	blood:	n/a	n/a
29	CTCF	chr17:20224200-20224350	HCFaa	heart:	n/a	n/a
30	CTCF	chr17:20224006-20224631	A549	lung:	n/a	n/a
31	CTCF	chr17:20284660-20284810	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr17:20224260-20224410	Caco-2	colon:	n/a	n/a
33	CTCF	chr17:20286348-20286399	GM13976	blood:	n/a	n/a
34	CTCF	chr17:20285190-20285229	LNCaP	prostate:	n/a	n/a
35	CTCF	chr17:20224018-20224027	GM19239	blood:	n/a	n/a
36	CTCF	chr17:20284680-20284830	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr17:20284700-20284850	NB4	blood:	n/a	n/a
38	CTCF	chr17:20284700-20284850	HVMF	connective:	n/a	n/a
39	CTCF	chr17:20284700-20284850	GM12866	blood:	n/a	n/a
40	CTCF	chr17:20224160-20224310	GM12871	blood:	n/a	n/a
41	CTCF	chr17:20224200-20224350	AG04450	lung:	n/a	n/a
42	CTCF	chr17:20283762-20283839	GM13976	blood:	n/a	n/a
43	CTCF	chr17:20284640-20284790	WI-38	lung:	n/a	n/a
44	CTCF	chr17:20285394-20285502	GM10248	blood:	n/a	n/a
45	CTCF	chr17:20248042-20248127	Lung_OC	lung:	n/a	n/a
46	CTCF	chr17:20224180-20224330	NHEK	skin:	n/a	n/a
47	CTCF	chr17:20284700-20284850	GM12867	blood:	n/a	n/a
48	CTCF	chr17:20284700-20284850	HCFaa	heart:	n/a	n/a
49	CTCF	chr17:20224220-20224370	GM12867	blood:	n/a	n/a
50	CTCF	chr17:20284800-20284950	HFF	foreskin:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20224345-20224395	PANC-1	pancreas:	n/a
2	chr17:20224345-20224395	PANC-1	pancreas:	n/a
3	chr17:20220360-20220410	H1-hESC	embryonic stem cell:	embryo
4	chr17:20225674-20225724	NT2-D1	testis:	n/a
5	chr17:20280056-20280106	HAEpiC	amniotic membrane:	n/a
6	chr17:20280056-20280106	HEK293	kidney:	embryo
7	chr17:20224414-20224464	SK-N-MC	brain:	n/a
8	chr17:20280153-20280203	MCF10A-Er-Src	breast:	n/a
9	chr17:20228619-20228669	HIPEpiC	eye:	n/a
10	chr17:20280153-20280203	HRPEpiC	eye:	n/a
11	chr17:20220360-20220410	A549	lung:	n/a
12	chr17:20220360-20220410	ovcar-3	ovarian:	n/a
13	chr17:20280056-20280106	BE2_C	brain:	n/a
14	chr17:20224345-20224395	Jurkat	blood:	n/a
15	chr17:20224230-20224280	SK-N-MC	brain:	n/a
16	chr17:20228619-20228669	PANC-1	pancreas:	n/a
17	chr17:20225674-20225724	HCF	heart:	n/a
18	chr17:20228619-20228669	HNPCEpiC	eye:	n/a
19	chr17:20279144-20279194	AoSMC	blood vessel:	n/a
20	chr17:20228619-20228669	HAEpiC	amniotic membrane:	n/a
21	chr17:20225674-20225724	HRPEpiC	eye:	n/a
22	chr17:20279144-20279194	Hepatocyte	liver:	n/a
23	chr17:20280153-20280203	AG04449	skin:	fetal
24	chr17:20280153-20280203	AG09319	gingival:	n/a
25	chr17:20224230-20224280	NH-A	brain:	n/a
26	chr17:20228619-20228669	HL-60	blood:	n/a
27	chr17:20280166-20280216	T-47D	breast:	n/a
28	chr17:20280056-20280106	AG09309	skin:	n/a
29	chr17:20280153-20280203	ovcar-3	ovarian:	n/a
30	chr17:20220360-20220410	HCM	heart:	n/a
31	chr17:20225674-20225724	HEEpiC	esophagus:	n/a
32	chr17:20228619-20228669	HRPEpiC	eye:	n/a
33	chr17:20228619-20228669	HCT-116	colon:	n/a
34	chr17:20228619-20228669	MCF10A-Er-Src	breast:	n/a
35	chr17:20224345-20224395	NHBE	bronchial:	n/a
36	chr17:20224230-20224280	HEK293	kidney:	embryo
37	chr17:20220360-20220410	BJ	skin:	n/a
38	chr17:20279144-20279194	HMEC	breast:	n/a
39	chr17:20220360-20220410	NH-A	brain:	n/a
40	chr17:20224414-20224464	NHDF-neo	bronchial:	n/a
41	chr17:20224414-20224464	HAEpiC	amniotic membrane:	n/a
42	chr17:20224800-20224850	SAEC	small airway:	n/a
43	chr17:20279144-20279194	Hela-S3	cervix:	n/a
44	chr17:20223299-20223349	HPAEpiC	pulmonary alveolar:	n/a
45	chr17:20225674-20225724	GM06990	blood:	n/a
46	chr17:20224800-20224850	HEEpiC	esophagus:	n/a
47	chr17:20279144-20279194	AG04450	lung:	fetal
48	chr17:20225674-20225724	HUVEC	blood vessel:	n/a
49	chr17:20220360-20220410	MCF-7	breast:	n/a
50	chr17:20224414-20224464	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20164807..20165435-chr17:20223847..20224473,2	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144C-1	chr17:20261192-20261409	NR_023380
2	lnc-CCDC144C-1	chr17:20268399-20269343	NR_023380
3	lnc-CCDC144C-1	chr17:20241470-20241543	NR_023380
4	lnc-SPECC1-2	chr17:20226371-20226650	ENSG00000266839.1
5	lnc-CCDC144C-1	chr17:20254570-20254711	NR_023380
6	lnc-CCDC144C-1	chr17:20245671-20245807	NR_023380
7	lnc-CCDC144C-1	chr17:20265497-20265680	NR_023380
8	lnc-CCDC144C-1	chr17:20242793-20243632	NR_023380
9	lnc-CCDC144C-1	chr17:20254251-20254284	NR_023380
10	lnc-CCDC144C-1	chr17:20224487-20224973	NR_023380
11	lnc-CCDC144C-1	chr17:20227496-20227566	NR_023380
12	lnc-CCDC144C-1	chr17:20266235-20266363	NR_023380
13	lnc-CCDC144C-1	chr17:20239145-20239393	NR_023380
14	lnc-SPECC1-3	chr17:20244056-20244356	NONHSAT146561
15	lnc-SPECC1-1	chr17:20226197-20226286	ENSG00000263494.1

No data

Variant related genes	Relation type
UPF3AP2	TF binding region
RN7SL17P	TF binding region
CCDC144CP	TF binding region
ENSG00000266839	TF binding region
UPF3AP2	CpG island
RN7SL17P	CpG island
CCDC144CP	CpG island
ENSG00000266839	CpG island

Extended variants
information (count: 1632 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:1632 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150629681	chr17:20219452-20219453	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs576050825	chr17:20219468-20219469	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542238519	chr17:20219481-20219482	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188303863	chr17:20219490-20219491	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529912273	chr17:20219497-20219498	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs75402668	chr17:20219498-20219499	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs2058971	chr17:20219508-20219509	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs527822302	chr17:20219529-20219530	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200232959	chr17:20219542-20219543	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs527629963	chr17:20219549-20219550	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76224704	chr17:20219609-20219610	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192973351	chr17:20219614-20219615	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs139159619	chr17:20219623-20219624	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs560120614	chr17:20219629-20219630	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs184266772	chr17:20219634-20219635	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs532322421	chr17:20219672-20219673	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568526432	chr17:20219701-20219702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4556847	chr17:20219752-20219753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535663110	chr17:20219765-20219766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373837049	chr17:20219767-20219768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547639116	chr17:20219773-20219774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144079888	chr17:20219793-20219794	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566022831	chr17:20219807-20219808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371129435	chr17:20219868-20219869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146482025	chr17:20219870-20219871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558245153	chr17:20219962-20219963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576793320	chr17:20219975-20219976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188548144	chr17:20219994-20219995	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569103177	chr17:20219995-20219996	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141144890	chr17:20219999-20220000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139295470	chr17:20220001-20220002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574498467	chr17:20220005-20220006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58803620	chr17:20220017-20220018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375309382	chr17:20220020-20220021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34120434	chr17:20220021-20220022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371508563	chr17:20220028-20220029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572356727	chr17:20220044-20220045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546149721	chr17:20220074-20220075	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564298149	chr17:20220147-20220148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34783305	chr17:20220198-20220199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548166895	chr17:20220238-20220239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148813207	chr17:20220240-20220241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191473328	chr17:20220266-20220267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529394551	chr17:20220279-20220280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547567818	chr17:20220289-20220290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35118209	chr17:20220369-20220370	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs199950096	chr17:20220383-20220384	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs565959254	chr17:20220385-20220386	Weak transcription Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs539716156	chr17:20220430-20220431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552065674	chr17:20220458-20220459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20187800-20223800	Weak transcription	Pancreas	Pancrea
2	chr17:20201000-20220000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:20210800-20223800	Weak transcription	Colonic Mucosa	Colon
4	chr17:20210800-20223800	Weak transcription	Esophagus	oesophagus
5	chr17:20211000-20219600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:20211000-20223000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:20211000-20223800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr17:20211000-20223800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:20211000-20224000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr17:20211000-20224000	Weak transcription	HMEC	breast
11	chr17:20211200-20221600	Weak transcription	Small Intestine	intestine
12	chr17:20211200-20223800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr17:20211200-20224000	Weak transcription	Fetal Intestine Large	intestine
14	chr17:20211400-20220800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:20211400-20224000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr17:20211600-20221800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:20211600-20224000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr17:20212200-20222000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:20212400-20219800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr17:20213000-20222000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:20213000-20223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:20213000-20223800	Weak transcription	Adipose Nuclei	Adipose
23	chr17:20213000-20226600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr17:20213200-20223800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:20214400-20223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:20214600-20220200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:20216000-20219600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:20216600-20221400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:20217000-20219600	Strong transcription	Osteobl	bone
30	chr17:20217200-20219600	Genic enhancers	Brain Hippocampus Middle	brain
31	chr17:20217200-20224000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:20217800-20221200	Weak transcription	Fetal Brain Female	brain
33	chr17:20218000-20220200	Weak transcription	Lung	lung
34	chr17:20218000-20221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:20218000-20221400	Weak transcription	Fetal Stomach	stomach
36	chr17:20218400-20219600	Enhancers	Brain Substantia Nigra	brain
37	chr17:20218400-20221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:20218400-20223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:20218600-20220200	Enhancers	Fetal Muscle Trunk	muscle
40	chr17:20218600-20223800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr17:20218600-20223800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:20218600-20223800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr17:20218600-20224000	Weak transcription	A549	lung
44	chr17:20218800-20219800	Enhancers	Fetal Muscle Leg	muscle
45	chr17:20218800-20223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:20218800-20224000	Weak transcription	NHEK	skin
47	chr17:20218800-20224400	Weak transcription	Gastric	stomach
48	chr17:20219000-20219800	Enhancers	Brain Anterior Caudate	brain
49	chr17:20219000-20223600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:20219000-20223800	Weak transcription	Rectal Mucosa Donor 29	rectum

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