Variant report

Variant	nsv543234
Chromosome Location	chr17:17310099-17344599
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1063)
CpG islands
(count:122)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1063 , 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	ARID3A	chr17:17311738-17312301	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:17319340-17320485	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:17311868-17312068	K562	blood:	n/a	n/a
4	ARID3A	chr17:17343355-17343673	HepG2	liver:	n/a	n/a
5	ARID3A	chr17:17321122-17322055	K562	blood:	n/a	n/a
6	ARID3A	chr17:17338615-17338970	HepG2	liver:	n/a	n/a
7	ARID3A	chr17:17321226-17322088	HepG2	liver:	n/a	n/a
8	ARID3A	chr17:17336791-17336877	HepG2	liver:	n/a	n/a
9	ATF1	chr17:17311891-17312184	K562	blood:	n/a	n/a
10	ATF3	chr17:17319388-17319719	GM12878	blood:	n/a	n/a
11	ATF3	chr17:17338425-17338994	A549	lung:	n/a	n/a
12	ATF3	chr17:17319307-17319849	HepG2	liver:	n/a	n/a
13	ATF3	chr17:17319473-17319667	HepG2	liver:	n/a	n/a
14	ATF3	chr17:17319414-17319702	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr17:17319440-17319645	K562	blood:	n/a	n/a
16	BACH1	chr17:17321747-17322020	K562	blood:	n/a	n/a
17	BACH1	chr17:17319791-17320009	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr17:17343409-17344051	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr17:17343257-17343960	A549	lung:	n/a	n/a
20	BCL3	chr17:17338460-17339116	A549	lung:	n/a	n/a
21	BHLHE40	chr17:17338684-17338974	K562	blood:	n/a	n/a
22	BHLHE40	chr17:17321714-17322180	K562	blood:	n/a	n/a
23	BRCA1	chr17:17311718-17312219	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr17:17338669-17338908	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr17:17319186-17319749	K562	blood:	n/a	n/a
26	CBX3	chr17:17324967-17325222	K562	blood:	n/a	n/a
27	CBX3	chr17:17327856-17328305	K562	blood:	n/a	n/a
28	CBX3	chr17:17343275-17343681	K562	blood:	n/a	n/a
29	CBX3	chr17:17343171-17343831	HCT-116	colon:	n/a	n/a
30	CBX3	chr17:17321657-17322036	K562	blood:	n/a	n/a
31	CBX3	chr17:17327816-17328343	K562	blood:	n/a	n/a
32	CBX3	chr17:17319342-17319684	K562	blood:	n/a	n/a
33	CCNT2	chr17:17321734-17322036	K562	blood:	n/a	n/a
34	CEBPB	chr17:17336636-17336872	K562	blood:	n/a	chr17:17336722-17336733
35	CEBPB	chr17:17337855-17338133	H1-hESC	embryonic stem cell:	n/a	chr17:17337987-17337998
36	CEBPB	chr17:17319172-17320178	A549	lung:	n/a	n/a
37	CEBPB	chr17:17319352-17320006	IMR90	lung:	n/a	n/a
38	CEBPB	chr17:17341252-17341583	HepG2	liver:	n/a	chr17:17341399-17341410
39	CEBPB	chr17:17311738-17312114	HepG2	liver:	n/a	chr17:17311930-17311941 chr17:17311919-17311930
40	CEBPB	chr17:17337808-17338146	K562	blood:	n/a	chr17:17337987-17337998
41	CEBPB	chr17:17341254-17341571	Hela-S3	cervix:	n/a	chr17:17341399-17341410
42	CEBPB	chr17:17337787-17338176	MCF-7	breast:	n/a	chr17:17337987-17337998
43	CEBPB	chr17:17336538-17336923	IMR90	lung:	n/a	chr17:17336722-17336733
44	CEBPB	chr17:17311714-17312149	MCF-7	breast:	n/a	chr17:17311930-17311941 chr17:17311919-17311930
45	CEBPB	chr17:17319394-17319641	HepG2	liver:	n/a	n/a
46	CEBPB	chr17:17321077-17321475	K562	blood:	n/a	n/a
47	CEBPB	chr17:17319348-17319731	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr17:17343294-17343609	K562	blood:	n/a	n/a
49	CEBPB	chr17:17319275-17319769	A549	lung:	n/a	n/a
50	CEBPB	chr17:17321090-17321481	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17338842-17338892	BE2_C	brain:	n/a
2	chr17:17338842-17338892	HL-60	blood:	n/a
3	chr17:17338842-17338892	PANC-1	pancreas:	n/a
4	chr17:17338842-17338892	Hepatocyte	liver:	n/a
5	chr17:17338842-17338892	GM12891	blood:	n/a
6	chr17:17343875-17343925	AG10803	skin:	n/a
7	chr17:17343875-17343925	SK-N-SH_RA	brain:	n/a
8	chr17:17343875-17343925	ProgFib	skin:	n/a
9	chr17:17343875-17343925	NH-A	brain:	n/a
10	chr17:17343875-17343925	NHBE	bronchial:	n/a
11	chr17:17338842-17338892	SK-N-SH_RA	brain:	n/a
12	chr17:17338842-17338892	NT2-D1	testis:	n/a
13	chr17:17343875-17343925	HNPCEpiC	eye:	n/a
14	chr17:17343875-17343925	ovcar-3	ovarian:	n/a
15	chr17:17338842-17338892	HCF	heart:	n/a
16	chr17:17338842-17338892	HIPEpiC	eye:	n/a
17	chr17:17338842-17338892	MCF10A-Er-Src	breast:	n/a
18	chr17:17338842-17338892	MCF-7	breast:	n/a
19	chr17:17343875-17343925	K562	blood:	n/a
20	chr17:17343875-17343925	BJ	skin:	n/a
21	chr17:17343875-17343925	Hela-S3	cervix:	n/a
22	chr17:17338842-17338892	HRPEpiC	eye:	n/a
23	chr17:17343875-17343925	PrEC	prostate:	n/a
24	chr17:17343875-17343925	HEEpiC	esophagus:	n/a
25	chr17:17338842-17338892	NB4	blood:	n/a
26	chr17:17338842-17338892	PFSK-1	brain:	n/a
27	chr17:17343875-17343925	GM12892	blood:	n/a
28	chr17:17338842-17338892	ECC-1	luminal epithelium:	n/a
29	chr17:17343875-17343925	SK-N-SH	brain:	n/a
30	chr17:17338842-17338892	Jurkat	blood:	n/a
31	chr17:17338842-17338892	RPTEC	kidney:	n/a
32	chr17:17338842-17338892	BJ	skin:	n/a
33	chr17:17343875-17343925	PANC-1	pancreas:	n/a
34	chr17:17338842-17338892	AG09309	skin:	n/a
35	chr17:17343875-17343925	HIPEpiC	eye:	n/a
36	chr17:17343875-17343925	SAEC	small airway:	n/a
37	chr17:17343875-17343925	AoSMC	blood vessel:	n/a
38	chr17:17343875-17343925	MCF-7	breast:	n/a
39	chr17:17343875-17343925	Hepatocyte	liver:	n/a
40	chr17:17338842-17338892	HepG2	liver:	n/a
41	chr17:17343875-17343925	CMK	blood:	n/a
42	chr17:17338842-17338892	CMK	blood:	n/a
43	chr17:17338842-17338892	HRE	kidney:	n/a
44	chr17:17343875-17343925	HL-60	blood:	n/a
45	chr17:17343875-17343925	HRPEpiC	eye:	n/a
46	chr17:17338842-17338892	AG04449	skin:	fetal
47	chr17:17343875-17343925	HRCEpiC	kidney:	n/a
48	chr17:17343875-17343925	HepG2	liver:	n/a
49	chr17:17343875-17343925	HPAEpiC	pulmonary alveolar:	n/a
50	chr17:17338842-17338892	GM12892	blood:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17344282..17356772-chr17:17394630..17405312,31	MCF-7	breast:
2	chr17:17318799..17322004-chr17:17396586..17401319,4	MCF-7	breast:
3	chr17:17308878..17311513-chr17:17316490..17320191,4	MCF-7	breast:
4	chr17:17261706..17263855-chr17:17343198..17345189,2	MCF-7	breast:
5	chr17:17336920..17339471-chr17:17342851..17344452,2	MCF-7	breast:
6	chr17:17340093..17354118-chr17:17394085..17402192,31	MCF-7	breast:
7	chr17:17342531..17346072-chr17:17347773..17351460,6	MCF-7	breast:
8	chr17:17323645..17325361-chr17:17339131..17341105,2	MCF-7	breast:
9	chr17:17329242..17331427-chr17:17343296..17345855,2	MCF-7	breast:
10	chr17:17321962..17324766-chr17:17326555..17329436,3	K562	blood:
11	chr17:17303349..17305790-chr17:17309231..17310797,2	MCF-7	breast:
12	chr17:17291681..17293275-chr17:17315308..17316852,2	MCF-7	breast:
13	chr17:17335771..17338449-chr17:17342663..17345052,2	MCF-7	breast:
14	chr17:17258968..17259852-chr17:17343043..17343948,2	K562	blood:
15	chr17:17321553..17324468-chr17:17587073..17589435,2	MCF-7	breast:
16	chr17:17259250..17260032-chr17:17342972..17343523,2	MCF-7	breast:
17	chr17:17308878..17311513-chr17:17316490..17320191,4	MCF-7	breast:
18	chr17:17324473..17327302-chr17:17336395..17338556,2	MCF-7	breast:
19	chr17:17290703..17292981-chr17:17343527..17346178,2	MCF-7	breast:
20	chr17:17323645..17325361-chr17:17339131..17341105,2	MCF-7	breast:
21	chr17:17255909..17258113-chr17:17342308..17343826,2	MCF-7	breast:
22	chr17:17313196..17314808-chr17:17317887..17319459,2	K562	blood:
23	chr17:17305801..17308448-chr17:17312032..17314293,2	K562	blood:
24	chr17:17336920..17339471-chr17:17342851..17344452,2	MCF-7	breast:
25	chr17:17335195..17342131-chr17:17347291..17351486,7	MCF-7	breast:
26	chr17:17335771..17338449-chr17:17342663..17345052,2	MCF-7	breast:
27	chr17:17321962..17324766-chr17:17326555..17329436,3	K562	blood:
28	chr17:17337262..17338945-chr17:17347016..17349151,2	MCF-7	breast:
29	chr17:17341170..17345071-chr17:17347034..17351413,6	MCF-7	breast:
30	chr17:17291138..17292058-chr17:17343026..17343970,5	MCF-7	breast:
31	chr17:17319589..17321575-chr17:17348151..17350364,2	MCF-7	breast:
32	chr17:17313196..17314808-chr17:17317887..17319459,2	K562	blood:
33	chr17:17338847..17340811-chr17:17396652..17398902,2	MCF-7	breast:
34	chr17:17329242..17331427-chr17:17343296..17345855,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227158	TF binding region
ENSG00000227158	CpG island
ENSG00000108551	chromatin interactions
ENSG00000227158	chromatin interactions

Extended variants
information (count: 1427 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:1427 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140640732	chr17:17310132-17310133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183264349	chr17:17310138-17310139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145794932	chr17:17310232-17310233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188225283	chr17:17310243-17310244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529959367	chr17:17310282-17310283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549124630	chr17:17310301-17310302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569205790	chr17:17310318-17310319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542993337	chr17:17310319-17310320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551896653	chr17:17310320-17310321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571918217	chr17:17310346-17310347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534396607	chr17:17310378-17310379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376179813	chr17:17310408-17310409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117806044	chr17:17310420-17310421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569562345	chr17:17310434-17310435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535425608	chr17:17310459-17310460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536927344	chr17:17310502-17310503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555916925	chr17:17310574-17310575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575974945	chr17:17310591-17310592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193195049	chr17:17310619-17310620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538392692	chr17:17310626-17310627	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs558226019	chr17:17310737-17310738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs138447015	chr17:17310738-17310739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540834355	chr17:17310816-17310817	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560714272	chr17:17310845-17310846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114286737	chr17:17310854-17310855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572285955	chr17:17310871-17310872	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374343753	chr17:17310877-17310878	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs16961656	chr17:17310886-17310887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531729313	chr17:17310891-17310892	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184750361	chr17:17310897-17310898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565389836	chr17:17310899-17310900	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs188380100	chr17:17310901-17310902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs558004177	chr17:17310912-17310913	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs371526555	chr17:17310950-17310951	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs567828483	chr17:17310996-17310997	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143035914	chr17:17311046-17311047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550437450	chr17:17311062-17311063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569595310	chr17:17311066-17311067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538248982	chr17:17311100-17311101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558088925	chr17:17311103-17311104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7211180	chr17:17311197-17311198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534385810	chr17:17311233-17311234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563762079	chr17:17311236-17311237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191370979	chr17:17311267-17311268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183679264	chr17:17311306-17311307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141652683	chr17:17311342-17311343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367721317	chr17:17311345-17311346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543400692	chr17:17311389-17311390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563604197	chr17:17311390-17311391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9907592	chr17:17311457-17311458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:162)

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
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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17299800-17310400	Enhancers	Primary hematopoietic stem cells	blood
2	chr17:17302000-17318800	Weak transcription	Right Atrium	heart
3	chr17:17305000-17311400	Weak transcription	Pancreas	Pancrea
4	chr17:17306600-17315400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:17307000-17311400	Weak transcription	Osteobl	bone
6	chr17:17307200-17316600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr17:17307600-17310200	Enhancers	Brain Germinal Matrix	brain
8	chr17:17307800-17310400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr17:17307800-17310400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr17:17307800-17311800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:17307800-17313000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:17308000-17310400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr17:17308000-17310600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:17308000-17310800	Enhancers	Primary T cells from cord blood	blood
15	chr17:17308000-17310800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:17308000-17311000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:17308000-17311600	Weak transcription	HUVEC	blood vessel
18	chr17:17308000-17313400	Weak transcription	Brain Substantia Nigra	brain
19	chr17:17308000-17313600	Weak transcription	Fetal Brain Male	brain
20	chr17:17308000-17314400	Enhancers	Fetal Thymus	thymus
21	chr17:17308000-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr17:17308200-17310600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr17:17308200-17310600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr17:17308200-17311600	Enhancers	Thymus	Thymus
25	chr17:17308200-17316600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr17:17308400-17310400	Weak transcription	Fetal Brain Female	brain
27	chr17:17308400-17312000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr17:17308800-17310400	Enhancers	Brain Anterior Caudate	brain
29	chr17:17308800-17312400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:17308800-17312400	Enhancers	Dnd41	blood
31	chr17:17309000-17312200	Enhancers	Adipose Nuclei	Adipose
32	chr17:17309200-17310600	Enhancers	Hela-S3	cervix
33	chr17:17309200-17312600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:17309400-17310200	Enhancers	Liver	Liver
35	chr17:17309600-17310200	Enhancers	Brain Angular Gyrus	brain
36	chr17:17309600-17310400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:17309600-17310400	Enhancers	Lung	lung
38	chr17:17309600-17313000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:17309800-17312000	Weak transcription	Spleen	Spleen
40	chr17:17310000-17312400	Enhancers	HepG2	liver
41	chr17:17310000-17313000	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:17310200-17311800	Weak transcription	Liver	Liver
43	chr17:17310200-17313000	Weak transcription	Brain Germinal Matrix	brain
44	chr17:17310400-17311000	Enhancers	Fetal Brain Female	brain
45	chr17:17310400-17311400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr17:17310400-17311400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:17310400-17315400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:17310400-17317200	Weak transcription	Lung	lung
49	chr17:17310600-17311000	Flanking Active TSS	Hela-S3	cervix
50	chr17:17310600-17311600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

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