Variant report

Variant	nsv543230
Chromosome Location	chr17:16878578-16892465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:562)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:16883876-16885053	GM12878	blood:	n/a	n/a
2	ATF2	chr17:16882323-16882852	GM12878	blood:	n/a	n/a
3	ATF2	chr17:16883921-16884397	GM12878	blood:	n/a	n/a
4	ATF2	chr17:16891065-16893260	GM12878	blood:	n/a	n/a
5	ATF2	chr17:16879256-16880184	GM12878	blood:	n/a	n/a
6	ATF2	chr17:16882345-16883125	GM12878	blood:	n/a	n/a
7	ATF2	chr17:16878298-16880053	GM12878	blood:	n/a	n/a
8	ATF2	chr17:16891144-16892466	GM12878	blood:	n/a	n/a
9	ATF2	chr17:16878391-16879183	GM12878	blood:	n/a	n/a
10	ATF2	chr17:16884500-16884935	GM12878	blood:	n/a	n/a
11	BACH1	chr17:16891590-16891984	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr17:16884059-16884325	GM12878	blood:	n/a	n/a
13	BATF	chr17:16889701-16889996	GM12878	blood:	n/a	chr17:16889856-16889867
14	BATF	chr17:16891245-16891781	GM12878	blood:	n/a	n/a
15	BATF	chr17:16891990-16892420	GM12878	blood:	n/a	n/a
16	BATF	chr17:16879649-16879995	GM12878	blood:	n/a	n/a
17	BATF	chr17:16878509-16879015	GM12878	blood:	n/a	n/a
18	BATF	chr17:16884050-16884429	GM12878	blood:	n/a	n/a
19	BATF	chr17:16891169-16891873	GM12878	blood:	n/a	n/a
20	BATF	chr17:16879465-16879939	GM12878	blood:	n/a	n/a
21	BCL11A	chr17:16879449-16879972	GM12878	blood:	n/a	n/a
22	BCL11A	chr17:16891254-16891844	GM12878	blood:	n/a	chr17:16891644-16891653
23	BCL11A	chr17:16882522-16882960	GM12878	blood:	n/a	n/a
24	BCL11A	chr17:16884551-16884902	GM12878	blood:	n/a	n/a
25	BCL11A	chr17:16891203-16891865	GM12878	blood:	n/a	chr17:16891644-16891653
26	BCL11A	chr17:16878608-16879017	GM12878	blood:	n/a	n/a
27	BCL11A	chr17:16878517-16879010	GM12878	blood:	n/a	n/a
28	BCL11A	chr17:16883960-16884453	GM12878	blood:	n/a	n/a
29	BCL11A	chr17:16884086-16884405	GM12878	blood:	n/a	n/a
30	BCL3	chr17:16891258-16891800	GM12878	blood:	n/a	chr17:16891644-16891653
31	BCL3	chr17:16878541-16879107	GM12878	blood:	n/a	n/a
32	BCL3	chr17:16884013-16884435	GM12878	blood:	n/a	n/a
33	BCL3	chr17:16879473-16880006	GM12878	blood:	n/a	n/a
34	BCL3	chr17:16891312-16891920	GM12878	blood:	n/a	chr17:16891644-16891653
35	BCL3	chr17:16879532-16879889	GM12878	blood:	n/a	n/a
36	BCLAF1	chr17:16891956-16893334	GM12878	blood:	n/a	n/a
37	BCLAF1	chr17:16884014-16885035	GM12878	blood:	n/a	n/a
38	BCLAF1	chr17:16891062-16891884	GM12878	blood:	n/a	chr17:16891644-16891653
39	BCLAF1	chr17:16891032-16893264	GM12878	blood:	n/a	chr17:16891644-16891653
40	BCLAF1	chr17:16884067-16884894	GM12878	blood:	n/a	n/a
41	BCLAF1	chr17:16878367-16880024	GM12878	blood:	n/a	n/a
42	BCLAF1	chr17:16882314-16882972	GM12878	blood:	n/a	n/a
43	BCLAF1	chr17:16879364-16879974	GM12878	blood:	n/a	n/a
44	BHLHE40	chr17:16882430-16882920	GM12878	blood:	n/a	n/a
45	BHLHE40	chr17:16891212-16893407	GM12878	blood:	n/a	n/a
46	BHLHE40	chr17:16884045-16885056	GM12878	blood:	n/a	n/a
47	BHLHE40	chr17:16878364-16880280	GM12878	blood:	n/a	n/a
48	BRCA1	chr17:16885095-16885146	GM12878	blood:	n/a	n/a
49	BRCA1	chr17:16891370-16892444	GM12878	blood:	n/a	n/a
50	CEBPB	chr17:16892118-16892394	HepG2	liver:	n/a	chr17:16892264-16892275

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16880871-16880921	GM19239	blood:	n/a
2	chr17:16880871-16880921	HEK293	kidney:	embryo
3	chr17:16880871-16880921	BJ	skin:	n/a
4	chr17:16880871-16880921	Hela-S3	cervix:	n/a
5	chr17:16880871-16880921	AG10803	skin:	n/a
6	chr17:16880871-16880921	HRPEpiC	eye:	n/a
7	chr17:16880871-16880921	NB4	blood:	n/a
8	chr17:16880871-16880921	HCM	heart:	n/a
9	chr17:16880871-16880921	Caco-2	colon:	n/a
10	chr17:16880871-16880921	HRE	kidney:	n/a
11	chr17:16880871-16880921	T-47D	breast:	n/a
12	chr17:16880871-16880921	HMEC	breast:	n/a
13	chr17:16880871-16880921	HRCEpiC	kidney:	n/a
14	chr17:16880871-16880921	GM12878	blood:	n/a
15	chr17:16880871-16880921	U87	brain:	n/a
16	chr17:16880871-16880921	K562	blood:	n/a
17	chr17:16880871-16880921	HAEpiC	amniotic membrane:	n/a
18	chr17:16880871-16880921	Hepatocyte	liver:	n/a
19	chr17:16880871-16880921	AG04449	skin:	fetal
20	chr17:16880871-16880921	H1-hESC	embryonic stem cell:	embryo
21	chr17:16880871-16880921	MCF-7	breast:	n/a
22	chr17:16880871-16880921	HCF	heart:	n/a
23	chr17:16880871-16880921	NH-A	brain:	n/a
24	chr17:16880871-16880921	BE2_C	brain:	n/a
25	chr17:16880871-16880921	NHBE	bronchial:	n/a
26	chr17:16880871-16880921	ProgFib	skin:	n/a
27	chr17:16880871-16880921	NHDF-neo	bronchial:	n/a
28	chr17:16880871-16880921	ovcar-3	ovarian:	n/a
29	chr17:16880871-16880921	PrEC	prostate:	n/a
30	chr17:16880871-16880921	HNPCEpiC	eye:	n/a
31	chr17:16880871-16880921	LNCaP	prostate:	n/a
32	chr17:16880871-16880921	HCPEpiC	choroid plexus:	n/a
33	chr17:16880871-16880921	NT2-D1	testis:	n/a
34	chr17:16880871-16880921	A549	lung:	n/a
35	chr17:16880871-16880921	SK-N-MC	brain:	n/a
36	chr17:16880871-16880921	GM06990	blood:	n/a
37	chr17:16880871-16880921	PANC-1	pancreas:	n/a
38	chr17:16880871-16880921	AG09309	skin:	n/a
39	chr17:16880871-16880921	AG09319	gingival:	n/a
40	chr17:16880871-16880921	IMR90	lung:	fetal
41	chr17:16880871-16880921	SAEC	small airway:	n/a
42	chr17:16880871-16880921	Jurkat	blood:	n/a
43	chr17:16880871-16880921	AoSMC	blood vessel:	n/a
44	chr17:16880871-16880921	HPAEpiC	pulmonary alveolar:	n/a
45	chr17:16880871-16880921	HL-60	blood:	n/a
46	chr17:16880871-16880921	ECC-1	luminal epithelium:	n/a
47	chr17:16880871-16880921	AG04450	lung:	fetal
48	chr17:16880871-16880921	RPTEC	kidney:	n/a
49	chr17:16880871-16880921	HIPEpiC	eye:	n/a
50	chr17:16880871-16880921	SK-N-SH	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16882114..16884861-chr17:16886512..16888116,2	MCF-7	breast:
2	chr17:16864871..16867780-chr17:16878608..16880115,2	MCF-7	breast:
3	chr17:16890452..16892957-chr17:17108135..17110227,2	MCF-7	breast:
4	chr17:16874028..16875806-chr17:16880248..16881845,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC104024.2.1-1	chr17:16886356-16886565	XLOC_012126
2	lnc-TNFRSF13B-1	chr17:16883515-16884030	ENSG00000230709
3	lnc-TNFRSF13B-1	chr17:16884615-16884667	ENSG00000230709
4	lnc-AC104024.2.1-2	chr17:16891643-16891837	ENSG00000230969.2
5	lnc-AC104024.2.1-2	chr17:16892229-16892364	ENSG00000230969.2
6	lnc-AC104024.2.1-1	chr17:16886104-16886117	XLOC_012126
7	lnc-TNFRSF13B-1	chr17:16879313-16880944	ENSG00000230709

No data

Variant related genes	Relation type
ENSG00000230969	TF binding region
TNFRSF13B	TF binding region
ENSG00000230709	TF binding region
ENSG00000230969	CpG island
TNFRSF13B	CpG island
ENSG00000230709	CpG island
ENSG00000179598	chromatin interactions
ENSG00000240505	chromatin interactions
ENSG00000230709	chromatin interactions
KRAS	miRNA target sites
ECT2	miRNA target sites
CYYR1	miRNA target sites

Extended variants
information (count: 590 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6502547	chr17:16878657-16878658	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556378370	chr17:16878735-16878736	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs180749351	chr17:16878752-16878753	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs535341214	chr17:16878813-16878814	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555544290	chr17:16878832-16878833	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144435017	chr17:16878850-16878851	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139455193	chr17:16878872-16878873	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs144149060	chr17:16878878-16878879	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs35736347	chr17:16878894-16878895	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540761506	chr17:16878918-16878919	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553982973	chr17:16878922-16878923	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114574926	chr17:16878932-16878933	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs115320074	chr17:16879060-16879061	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs8074984	chr17:16879070-16879071	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185123401	chr17:16879072-16879073	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146501476	chr17:16879127-16879128	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564923583	chr17:16879224-16879225	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376517303	chr17:16879263-16879264	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567895867	chr17:16879274-16879275	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs139922683	chr17:16879275-16879276	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs5819594	chr17:16879297-16879298	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs559585514	chr17:16879307-16879308	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567254586	chr17:16879361-16879362	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs201339504	chr17:16879365-16879366	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs151279935	chr17:16879382-16879383	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs4985757	chr17:16879423-16879424	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs375878745	chr17:16879441-16879442	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs140486689	chr17:16879456-16879457	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs538574276	chr17:16879500-16879501	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs557720637	chr17:16879503-16879504	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs190715814	chr17:16879544-16879545	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs369150082	chr17:16879567-16879568	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs563714285	chr17:16879619-16879620	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs533943160	chr17:16879677-16879678	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs554209300	chr17:16879717-16879718	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs574063997	chr17:16879756-16879757	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs79666742	chr17:16879829-16879830	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs150411555	chr17:16879862-16879863	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs576802677	chr17:16879893-16879894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs545758846	chr17:16879894-16879895	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs565589290	chr17:16879933-16879934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs4985758	chr17:16879990-16879991	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183449515	chr17:16880037-16880038	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs561004626	chr17:16880079-16880080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs75154053	chr17:16880093-16880094	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs543879887	chr17:16880144-16880145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs116083943	chr17:16880155-16880156	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs556703409	chr17:16880208-16880209	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs376436030	chr17:16880210-16880211	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs67190389	chr17:16880234-16880235	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	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
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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16867400-16883800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16873000-16880800	Enhancers	Fetal Thymus	thymus
3	chr17:16874200-16880000	Enhancers	Dnd41	blood
4	chr17:16875200-16885800	Enhancers	Primary B cells from cord blood	blood
5	chr17:16875600-16878600	Weak transcription	Thymus	Thymus
6	chr17:16875800-16887200	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:16877400-16879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:16878000-16878600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr17:16878000-16882800	Flanking Active TSS	GM12878-XiMat	blood
10	chr17:16878200-16878800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr17:16878200-16879200	Enhancers	Brain Germinal Matrix	brain
12	chr17:16878400-16880600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr17:16878400-16883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:16878600-16878800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:16878600-16878800	Enhancers	Duodenum Mucosa	Duodenum
16	chr17:16878600-16879000	Bivalent Enhancer	HSMMtube	muscle
17	chr17:16878600-16880200	Enhancers	Thymus	Thymus
18	chr17:16878600-16881600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr17:16878800-16879000	Enhancers	Fetal Heart	heart
20	chr17:16878800-16879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:16878800-16884200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:16879600-16879800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr17:16879600-16879800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:16879600-16879800	Enhancers	Primary hematopoietic stem cells	blood
25	chr17:16879600-16879800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:16879600-16879800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:16879600-16879800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:16879600-16880200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:16879600-16880200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:16879600-16880200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:16879600-16880400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr17:16879600-16880400	Bivalent Enhancer	HUVEC	blood vessel
33	chr17:16879600-16880800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:16879600-16880800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:16879800-16880000	Enhancers	NH-A	brain
36	chr17:16879800-16881400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:16880000-16880400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:16880000-16880800	Flanking Active TSS	Dnd41	blood
39	chr17:16880200-16880400	Active TSS	Fetal Heart	heart
40	chr17:16880200-16880600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:16880200-16881000	Weak transcription	NH-A	brain
42	chr17:16880200-16881400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:16880400-16880600	Enhancers	Primary hematopoietic stem cells	blood
44	chr17:16880400-16881000	Flanking Active TSS	Fetal Heart	heart
45	chr17:16880600-16880800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:16880800-16881400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:16880800-16881600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:16880800-16882800	Enhancers	Dnd41	blood
49	chr17:16880800-16884200	Weak transcription	Fetal Thymus	thymus
50	chr17:16881000-16881800	Enhancers	Placenta Amnion	Placenta Amnion

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