Variant report

Variant	esv2635467
Chromosome Location	chr17:16589774-16757904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1098)
CpG islands
(count:1649)
Chromatin interactive
region (count:1)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr17:16593180-16593594	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:16719169-16719457	K562	blood:	n/a	n/a
3	BACH1	chr17:16719341-16719384	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr17:16648342-16648531	GM12878	blood:	n/a	n/a
5	BATF	chr17:16617967-16618171	GM12878	blood:	n/a	n/a
6	BATF	chr17:16638089-16638468	GM12878	blood:	n/a	n/a
7	BATF	chr17:16593196-16593604	GM12878	blood:	n/a	n/a
8	BATF	chr17:16617753-16618210	GM12878	blood:	n/a	n/a
9	BATF	chr17:16625165-16625430	GM12878	blood:	n/a	n/a
10	BATF	chr17:16638159-16638457	GM12878	blood:	n/a	n/a
11	BATF	chr17:16612551-16612747	GM12878	blood:	n/a	n/a
12	BATF	chr17:16711019-16711268	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
13	BATF	chr17:16710949-16711369	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
14	BCL11A	chr17:16638200-16638440	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:16617949-16618181	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:16593243-16593502	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:16593146-16593673	GM12878	blood:	n/a	n/a
18	BHLHE40	chr17:16655478-16655512	K562	blood:	n/a	n/a
19	CBX3	chr17:16593160-16593610	K562	blood:	n/a	n/a
20	CEBPB	chr17:16613038-16613211	K562	blood:	n/a	n/a
21	CEBPB	chr17:16663012-16663205	IMR90	lung:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
22	CEBPB	chr17:16612522-16612646	K562	blood:	n/a	n/a
23	CEBPB	chr17:16676545-16676704	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr17:16663026-16663220	A549	lung:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
25	CEBPB	chr17:16613014-16613307	K562	blood:	n/a	n/a
26	CEBPB	chr17:16663042-16663112	K562	blood:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
27	CREB1	chr17:16593406-16593641	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:16608722-16608774	GM13976	blood:	n/a	n/a
29	CTCF	chr17:16721980-16722130	K562	blood:	n/a	n/a
30	CTCF	chr17:16655072-16655235	GM10266	blood:	n/a	n/a
31	CTCF	chr17:16654680-16654830	GM12874	blood:	n/a	n/a
32	CTCF	chr17:16654660-16654810	GM12872	blood:	n/a	n/a
33	CTCF	chr17:16593420-16593570	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr17:16655395-16655408	K562	blood:	n/a	n/a
35	CTCF	chr17:16655110-16655182	MCF-7	breast:	n/a	n/a
36	CTCF	chr17:16733629-16733838	K562	blood:	n/a	n/a
37	CTCF	chr17:16654680-16654830	GM12873	blood:	n/a	n/a
38	CTCF	chr17:16593420-16593570	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr17:16593120-16593270	HAc	cerebellar:	n/a	n/a
40	CTCF	chr17:16593120-16593270	HCM	heart:	n/a	n/a
41	CTCF	chr17:16751281-16751329	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr17:16654680-16654830	AG09319	gingival:	n/a	n/a
43	CTCF	chr17:16602903-16603024	Medullo	brain:	n/a	chr17:16603015-16603022
44	CTCF	chr17:16654700-16654850	GM12870	blood:	n/a	n/a
45	CTCF	chr17:16654620-16654863	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr17:16718040-16718190	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr17:16660680-16660830	GM12867	blood:	n/a	n/a
48	CTCF	chr17:16593180-16593330	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr17:16733566-16733843	GM13977	blood:	n/a	n/a
50	CTCF	chr17:16654700-16654850	GM12872	blood:	n/a	n/a

(count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16590232-16590282	AG09309	skin:	n/a
2	chr17:16737096-16737146	HCF	heart:	n/a
3	chr17:16590232-16590282	AG09309	skin:	n/a
4	chr17:16737096-16737146	HCF	heart:	n/a
5	chr17:16593426-16593476	H1-hESC	embryonic stem cell:	embryo
6	chr17:16593426-16593476	AoSMC	blood vessel:	n/a
7	chr17:16649246-16649296	Hepatocyte	liver:	n/a
8	chr17:16593613-16593663	HCT-116	colon:	n/a
9	chr17:16610132-16610182	CMK	blood:	n/a
10	chr17:16610318-16610368	Hepatocyte	liver:	n/a
11	chr17:16690173-16690223	ovcar-3	ovarian:	n/a
12	chr17:16593517-16593567	HRPEpiC	eye:	n/a
13	chr17:16593613-16593663	Hela-S3	cervix:	n/a
14	chr17:16592532-16592582	HL-60	blood:	n/a
15	chr17:16610132-16610182	NHBE	bronchial:	n/a
16	chr17:16734819-16734869	LNCaP	prostate:	n/a
17	chr17:16610318-16610368	SK-N-SH_RA	brain:	n/a
18	chr17:16690173-16690223	SAEC	small airway:	n/a
19	chr17:16593582-16593632	GM12892	blood:	n/a
20	chr17:16690173-16690223	PFSK-1	brain:	n/a
21	chr17:16592532-16592582	GM19239	blood:	n/a
22	chr17:16593081-16593131	HCPEpiC	choroid plexus:	n/a
23	chr17:16688816-16688866	SK-N-MC	brain:	n/a
24	chr17:16614065-16614115	Hela-S3	cervix:	n/a
25	chr17:16757305-16757355	IMR90	lung:	fetal
26	chr17:16610318-16610368	HCPEpiC	choroid plexus:	n/a
27	chr17:16594459-16594509	ECC-1	luminal epithelium:	n/a
28	chr17:16688816-16688866	Caco-2	colon:	n/a
29	chr17:16590232-16590282	AG04449	skin:	fetal
30	chr17:16594459-16594509	HNPCEpiC	eye:	n/a
31	chr17:16688816-16688866	HEK293	kidney:	embryo
32	chr17:16737096-16737146	PANC-1	pancreas:	n/a
33	chr17:16593081-16593131	AG09309	skin:	n/a
34	chr17:16590232-16590282	AG09319	gingival:	n/a
35	chr17:16649246-16649296	HNPCEpiC	eye:	n/a
36	chr17:16737096-16737146	HMEC	breast:	n/a
37	chr17:16610132-16610182	AG04450	lung:	fetal
38	chr17:16597563-16597613	CMK	blood:	n/a
39	chr17:16693633-16693683	AoSMC	blood vessel:	n/a
40	chr17:16734819-16734869	GM12891	blood:	n/a
41	chr17:16734819-16734869	AoSMC	blood vessel:	n/a
42	chr17:16593589-16593639	HL-60	blood:	n/a
43	chr17:16757356-16757406	HCT-116	colon:	n/a
44	chr17:16693633-16693683	AG04450	lung:	fetal
45	chr17:16593063-16593113	NHBE	bronchial:	n/a
46	chr17:16734819-16734869	GM19239	blood:	n/a
47	chr17:16593601-16593651	RPTEC	kidney:	n/a
48	chr17:16593582-16593632	NH-A	brain:	n/a
49	chr17:16593081-16593131	GM06990	blood:	n/a
50	chr17:16594459-16594509	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16721818..16722353-chr17:16776583..16777108,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144A-4	chr17:16735634-16735881	NONHSAT146016
2	lnc-KRT17P1-2	chr17:16751411-16751727	NONHSAT146019
3	lnc-AC104024.2.1-3	chr17:16692057-16693815	NONHSAT146006
4	lnc-CCDC144A-4	chr17:16734662-16734742	NONHSAT146016
5	lnc-CCDC144A-1	chr17:16707941-16707992	ENSG00000264729.1
6	lnc-TRPV2-6	chr17:16612110-16612773	NONHSAT145994
7	lnc-AC104024.2.1-4	chr17:16630841-16631209	NONHSAT145996
8	lnc-TRPV2-7	chr17:16613373-16613673	NONHSAT145995
9	lnc-AC104024.2.1-4	chr17:16623831-16623972	NONHSAT145996
10	lnc-AC104024.2.1-3	chr17:16692215-16692721	NONHSAT146007
11	lnc-KRT17P1-1	chr17:16691922-16692548	ENSG00000264673.1
12	lnc-CCDC144A-1	chr17:16708772-16709021	ENSG00000264729.1
13	lnc-TRPV2-6	chr17:16608598-16608713	NONHSAT145994
14	lnc-AC104024.2.1-4	chr17:16630374-16630453	NONHSAT145996
15	lnc-KRT17P1-2	chr17:16750949-16751252	NONHSAT146019
16	lnc-KRT17P1-1	chr17:16691562-16691620	ENSG00000264673.1

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CCDC144A	hsa-miR-26b-5p	chr17:16677653-16677674
2	LOC162632	hsa-miR-26b-5p	chr17:16707023-16707045

Variant related genes	Relation type
UPF3AP1	TF binding region
ENSG00000264673	TF binding region
ENSG00000266302	TF binding region
COTL1P1	TF binding region
CCDC144A	TF binding region
USP32P1	TF binding region
ENSG00000272815	TF binding region
SRP68P1	TF binding region
ENSG00000264729	TF binding region
ENSG00000205312	TF binding region
ENSG00000226145	TF binding region
RN7SL620P	TF binding region
KRT16P2	TF binding region
FAM106CP	TF binding region
RNU6-405P	TF binding region
ENSG00000264892	TF binding region
KRT17P1	TF binding region
UPF3AP1	CpG island
ENSG00000264673	CpG island
ENSG00000266302	CpG island
COTL1P1	CpG island
CCDC144A	CpG island
USP32P1	CpG island
ENSG00000272815	CpG island
SRP68P1	CpG island
ENSG00000264729	CpG island
ENSG00000205312	CpG island
ENSG00000226145	CpG island
RN7SL620P	CpG island
KRT16P2	CpG island
FAM106CP	CpG island
RNU6-405P	CpG island
ENSG00000264892	CpG island
KRT17P1	CpG island

Extended variants
information (count: 2921 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:2921 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200335092	chr17:16589775-16589776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181565357	chr17:16589788-16589789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28463607	chr17:16589795-16589796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28564256	chr17:16589812-16589813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28376970	chr17:16589817-16589818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28685290	chr17:16589845-16589846	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561758819	chr17:16589869-16589870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146019325	chr17:16589962-16589963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4034593	chr17:16589966-16589967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550475149	chr17:16589967-16589968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2349258	chr17:16589969-16589970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569685452	chr17:16589979-16589980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532373087	chr17:16589980-16589981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2882111	chr17:16589988-16589989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552212607	chr17:16590001-16590002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566154470	chr17:16590031-16590032	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs534835916	chr17:16590033-16590034	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs28692710	chr17:16590061-16590062	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs373988922	chr17:16590062-16590063	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs548748035	chr17:16590077-16590078	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs2349259	chr17:16590103-16590104	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs568578700	chr17:16590104-16590105	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs189652498	chr17:16590139-16590140	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs2349260	chr17:16590216-16590217	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
25	rs2349261	chr17:16590225-16590226	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
26	rs2882112	chr17:16590291-16590292	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs557693366	chr17:16590303-16590304	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs542749732	chr17:16590305-16590306	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs143351074	chr17:16590336-16590337	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs528510507	chr17:16590353-16590354	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs552743467	chr17:16590399-16590400	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs146830760	chr17:16590405-16590406	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs180780143	chr17:16590442-16590443	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541591612	chr17:16590507-16590508	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs561884946	chr17:16590555-16590556	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs149997743	chr17:16590567-16590568	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs899784	chr17:16590596-16590597	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
38	rs397832501	chr17:16590624-16590625	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
39	rs544053566	chr17:16590627-16590628	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs564047409	chr17:16590632-16590633	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs899786	chr17:16590643-16590644	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs35193800	chr17:16590659-16590660	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs185875990	chr17:16590660-16590661	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs568442536	chr17:16590666-16590667	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs201427848	chr17:16590671-16590672	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs552149361	chr17:16590674-16590675	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs189994785	chr17:16590680-16590681	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs528551383	chr17:16590681-16590682	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs548416869	chr17:16590685-16590686	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs183347233	chr17:16590700-16590701	Active TSS Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:160)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	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
Acute myeloid leukemia	17237825	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
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16581800-16589800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr17:16587000-16591400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:16587200-16590000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:16589400-16590000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr17:16589600-16589800	Enhancers	Adipose Nuclei	Adipose
6	chr17:16589600-16591200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr17:16589600-16591800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr17:16589800-16590200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:16589800-16591400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr17:16589800-16591400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr17:16589800-16591800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr17:16590000-16590200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:16590000-16590400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:16590000-16592800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr17:16590200-16590400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr17:16590200-16591200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:16590400-16591000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr17:16590400-16591000	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr17:16590400-16592600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:16590800-16591000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:16591000-16591200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr17:16591000-16591200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr17:16591200-16591400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr17:16591600-16591800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:16592600-16593600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:16592800-16594000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr17:16593400-16593600	Enhancers	Pancreas	Pancrea
28	chr17:16593400-16593600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr17:16593600-16593800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:16593600-16593800	Active TSS	Right Atrium	heart
31	chr17:16593600-16594000	Enhancers	Placenta	Placenta
32	chr17:16593600-16594000	Active TSS	Left Ventricle	heart
33	chr17:16593600-16594000	Active TSS	Pancreas	Pancrea
34	chr17:16593800-16594000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:16624000-16624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:16624000-16624400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr17:16624000-16624400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr17:16624000-16624600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr17:16624400-16625600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:16625800-16626000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr17:16645000-16645200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr17:16648200-16648400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr17:16648800-16649600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr17:16649000-16649400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr17:16649000-16649400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:16649000-16649400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr17:16649000-16649400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:16649000-16649600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr17:16649000-16649600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr17:16649000-16649600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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