Variant report

Variant	esv1847825
Chromosome Location	chr17:18319850-18465209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:703)
CpG islands
(count:977)
Chromatin interactive
region (count:0)
LncRNA
region (count:81)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:703 , 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	BACH1	chr17:18362390-18362672	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:18355389-18355575	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr17:18396335-18396562	GM12878	blood:	n/a	chr17:18396479-18396490
4	BATF	chr17:18410950-18411370	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
5	BATF	chr17:18411051-18411300	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
6	BATF	chr17:18379787-18380078	GM12878	blood:	n/a	n/a
7	BATF	chr17:18379801-18380128	GM12878	blood:	n/a	n/a
8	BATF	chr17:18396259-18396664	GM12878	blood:	n/a	chr17:18396479-18396490
9	BCL11A	chr17:18424410-18424651	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:18379825-18380074	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:18378052-18378384	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:18379766-18380162	GM12878	blood:	n/a	n/a
13	BHLHE40	chr17:18424672-18424862	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:18396537-18396565	K562	blood:	n/a	n/a
15	CEBPB	chr17:18362210-18362602	Hela-S3	cervix:	n/a	chr17:18362363-18362376
16	CEBPB	chr17:18322055-18322251	K562	blood:	n/a	n/a
17	CEBPB	chr17:18322048-18322324	K562	blood:	n/a	n/a
18	CEBPB	chr17:18362356-18362662	IMR90	lung:	n/a	chr17:18362363-18362376
19	CEBPB	chr17:18322037-18322380	K562	blood:	n/a	n/a
20	CTCF	chr17:18396518-18396583	NHEK	skin:	n/a	n/a
21	CTCF	chr17:18345461-18345702	A549	lung:	n/a	n/a
22	CTCF	chr17:18445044-18445201	Lung_OC	lung:	n/a	n/a
23	CTCF	chr17:18428497-18428603	LNCaP	prostate:	n/a	chr17:18428545-18428561 chr17:18428546-18428567
24	CTCF	chr17:18403800-18403950	GM12865	blood:	n/a	n/a
25	CTCF	chr17:18355312-18355340	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr17:18391446-18391453	GM10248	blood:	n/a	n/a
27	CTCF	chr17:18391849-18391946	Lung_OC	lung:	n/a	n/a
28	CTCF	chr17:18394379-18394415	GM10248	blood:	n/a	n/a
29	CTCF	chr17:18400490-18400491	LNCaP	prostate:	n/a	n/a
30	CTCF	chr17:18355427-18355432	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr17:18400380-18400530	GM06990	blood:	n/a	n/a
32	CTCF	chr17:18403696-18403697	MCF-7	breast:	n/a	n/a
33	CTCF	chr17:18400403-18400659	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr17:18428396-18428715	A549	lung:	n/a	chr17:18428545-18428561 chr17:18428546-18428567
35	CTCF	chr17:18345520-18345807	GM13977	blood:	n/a	n/a
36	CTCF	chr17:18335337-18335377	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr17:18400380-18400530	BE2_C	brain:	n/a	n/a
38	CTCF	chr17:18338856-18339158	A549	lung:	n/a	n/a
39	CTCF	chr17:18381227-18381311	NHEK	skin:	n/a	chr17:18381256-18381277 chr17:18381261-18381279 chr17:18381264-18381274 chr17:18381262-18381278
40	CTCF	chr17:18345520-18345670	GM12873	blood:	n/a	n/a
41	CTCF	chr17:18400600-18400750	NHEK	skin:	n/a	n/a
42	CTCF	chr17:18345580-18345730	GM12873	blood:	n/a	n/a
43	CTCF	chr17:18345503-18345766	GM19240	blood:	n/a	n/a
44	CTCF	chr17:18400500-18400650	SAEC	small airway:	n/a	n/a
45	CTCF	chr17:18428441-18428633	MCF-7	breast:	n/a	chr17:18428545-18428561 chr17:18428546-18428567
46	CTCF	chr17:18428338-18428652	A549	lung:	n/a	chr17:18428545-18428561 chr17:18428546-18428567
47	CTCF	chr17:18400467-18400700	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr17:18345419-18345742	K562	blood:	n/a	n/a
49	CTCF	chr17:18345537-18345719	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr17:18338952-18339133	K562	blood:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18324895-18324945	AoSMC	blood vessel:	n/a
2	chr17:18324895-18324945	AoSMC	blood vessel:	n/a
3	chr17:18432149-18432199	HNPCEpiC	eye:	n/a
4	chr17:18380159-18380209	GM12892	blood:	n/a
5	chr17:18432149-18432199	GM19239	blood:	n/a
6	chr17:18378879-18378929	BJ	skin:	n/a
7	chr17:18378879-18378929	HUVEC	blood vessel:	n/a
8	chr17:18378879-18378929	ECC-1	luminal epithelium:	n/a
9	chr17:18325001-18325051	Hela-S3	cervix:	n/a
10	chr17:18378879-18378929	SAEC	small airway:	n/a
11	chr17:18432149-18432199	LNCaP	prostate:	n/a
12	chr17:18325001-18325051	SAEC	small airway:	n/a
13	chr17:18325001-18325051	ProgFib	skin:	n/a
14	chr17:18432149-18432199	Caco-2	colon:	n/a
15	chr17:18430908-18430958	AoSMC	blood vessel:	n/a
16	chr17:18325001-18325051	SKMC	muscle:	n/a
17	chr17:18324790-18324840	HEK293	kidney:	embryo
18	chr17:18429951-18430001	NHDF-neo	bronchial:	n/a
19	chr17:18428092-18428142	T-47D	breast:	n/a
20	chr17:18324895-18324945	AG09309	skin:	n/a
21	chr17:18380159-18380209	T-47D	breast:	n/a
22	chr17:18379129-18379179	HPAEpiC	pulmonary alveolar:	n/a
23	chr17:18380354-18380404	HAEpiC	amniotic membrane:	n/a
24	chr17:18432149-18432199	PrEC	prostate:	n/a
25	chr17:18430908-18430958	ProgFib	skin:	n/a
26	chr17:18431043-18431093	AG09309	skin:	n/a
27	chr17:18428092-18428142	PFSK-1	brain:	n/a
28	chr17:18380354-18380404	LNCaP	prostate:	n/a
29	chr17:18421335-18421385	HEEpiC	esophagus:	n/a
30	chr17:18428092-18428142	AG04450	lung:	fetal
31	chr17:18380354-18380404	MCF10A-Er-Src	breast:	n/a
32	chr17:18380159-18380209	U87	brain:	n/a
33	chr17:18431043-18431093	NHDF-neo	bronchial:	n/a
34	chr17:18324790-18324840	BJ	skin:	n/a
35	chr17:18397849-18397899	HRCEpiC	kidney:	n/a
36	chr17:18397849-18397899	HEEpiC	esophagus:	n/a
37	chr17:18431043-18431093	SK-N-MC	brain:	n/a
38	chr17:18419896-18419946	BE2_C	brain:	n/a
39	chr17:18379129-18379179	AG04450	lung:	fetal
40	chr17:18325001-18325051	HUVEC	blood vessel:	n/a
41	chr17:18379129-18379179	CMK	blood:	n/a
42	chr17:18429951-18430001	K562	blood:	n/a
43	chr17:18380354-18380404	NB4	blood:	n/a
44	chr17:18379129-18379179	AG04449	skin:	fetal
45	chr17:18397849-18397899	HIPEpiC	eye:	n/a
46	chr17:18325001-18325051	GM12892	blood:	n/a
47	chr17:18428092-18428142	ECC-1	luminal epithelium:	n/a
48	chr17:18324895-18324945	HCF	heart:	n/a
49	chr17:18380354-18380404	HNPCEpiC	eye:	n/a
50	chr17:18325001-18325051	HMEC	breast:	n/a

No data

(count:81 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM106A-2	chr17:18427457-18427714	ENSG00000273018.1
2	lnc-AL353997.5.1-1	chr17:18327635-18327951	ENSG00000205266.5
3	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
4	lnc-AL353997.5.1-6	chr17:18395939-18396053	NONHSAT146378
5	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146382
6	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
7	lnc-FAM106A-2	chr17:18444241-18444550	ENSG00000273018.1
8	lnc-FAM106A-2	chr17:18420604-18420787	NONHSAT146381
9	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
10	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
11	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
12	lnc-FAM106A-2	chr17:18431887-18432126	NONHSAT146381
13	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
14	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
15	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
16	lnc-FAM106A-2	chr17:18436661-18436946	ENSG00000273018.1
17	lnc-AL353997.5.1-5	chr17:18387189-18387649	NONHSAT146376
18	lnc-FAM106A-2	chr17:18454820-18454999	ENSG00000273018.1
19	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
20	lnc-FAM106A-2	chr17:18420604-18420787	ENSG00000273018.1
21	lnc-FAM106A-2	chr17:18446987-18447029	ENSG00000273018.1
22	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
23	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
24	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146381
25	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
26	lnc-FAM106A-2	chr17:18436661-18436705	ENSG00000273018.1
27	lnc-AL353997.5.1-4	chr17:18343740-18343831	NONHSAT146373
28	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
29	lnc-FAM106A-2	chr17:18427120-18427191	ENSG00000273018.1
30	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
31	lnc-AL353997.5.1-6	chr17:18395483-18395859	NONHSAT146378
32	lnc-FAM106A-2	chr17:18436395-18436705	NONHSAT146384
33	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
34	lnc-FAM106A-2	chr17:18435820-18436192	ENSG00000273018.1
35	lnc-AL353997.5.1-4	chr17:18343220-18343625	NONHSAT146373
36	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
37	lnc-FAM106A-2	chr17:18424393-18424459	ENSG00000273018.1
38	lnc-FAM106A-2	chr17:18422958-18422988	ENSG00000273018.1
39	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
40	lnc-FAM106A-2	chr17:18454820-18455019	ENSG00000273018.1
41	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
42	lnc-FAM106A-2	chr17:18436661-18437376	ENSG00000273018.1
43	lnc-FAM106A-2	chr17:18431887-18432298	ENSG00000273018.1
44	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
45	lnc-FAM106A-2	chr17:18435820-18436348	ENSG00000273018.1
46	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
47	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
48	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
49	lnc-FAM106A-2	chr17:18436661-18436852	ENSG00000273018.1
50	lnc-FAM106A-1	chr17:18427880-18430160	NR_026809

No data

Variant related genes	Relation type
ENSG00000205266	TF binding region
USP32P2	TF binding region
KRT16P4	TF binding region
LGALS9C	TF binding region
ENSG00000227919	TF binding region
ENSG00000267492	TF binding region
KRT16P1	TF binding region
TNPO1P2	TF binding region
ENSG00000240279	TF binding region
YWHAEP2	TF binding region
FAM106A	TF binding region
KRT17P2	TF binding region
SRP68P2	TF binding region
NOS2P2	TF binding region
CCDC144B	TF binding region
ENSG00000273018	TF binding region
ENSG00000205266	CpG island
USP32P2	CpG island
KRT16P4	CpG island
LGALS9C	CpG island
ENSG00000227919	CpG island
ENSG00000267492	CpG island
KRT16P1	CpG island
TNPO1P2	CpG island
ENSG00000240279	CpG island
YWHAEP2	CpG island
FAM106A	CpG island
KRT17P2	CpG island
SRP68P2	CpG island
NOS2P2	CpG island
CCDC144B	CpG island
ENSG00000273018	CpG island

Extended variants
information (count: 3019 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:3019 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545749128	chr17:18319899-18319900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559070576	chr17:18319900-18319901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528118192	chr17:18319908-18319909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111692810	chr17:18319909-18319910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561805124	chr17:18319954-18319955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368993279	chr17:18319961-18319962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530274560	chr17:18319962-18319963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550112528	chr17:18319991-18319992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116040838	chr17:18320217-18320218	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs545755439	chr17:18320231-18320232	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs28459061	chr17:18320238-18320239	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs559643118	chr17:18320256-18320257	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs572864846	chr17:18320297-18320298	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs537531311	chr17:18320300-18320301	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs369114256	chr17:18320301-18320302	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs541854033	chr17:18320338-18320339	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs62074240	chr17:18320355-18320356	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs28384298	chr17:18320435-18320436	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs561721395	chr17:18320440-18320441	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs376203046	chr17:18320455-18320456	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs369354456	chr17:18320465-18320466	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs2930568	chr17:18320467-18320468	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs2948631	chr17:18320476-18320477	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs551124542	chr17:18320497-18320498	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs550318596	chr17:18320521-18320522	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs563716987	chr17:18320547-18320548	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs140556201	chr17:18320583-18320584	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs552592644	chr17:18320625-18320626	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs550585761	chr17:18320645-18320646	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs566074009	chr17:18320670-18320671	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs372902586	chr17:18320672-18320673	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs545325040	chr17:18320780-18320781	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs548198715	chr17:18320797-18320798	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs543953722	chr17:18321834-18321835	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs202173647	chr17:18321836-18321837	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs564253028	chr17:18321860-18321861	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs2608217	chr17:18321867-18321868	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
38	rs532588963	chr17:18321877-18321878	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
39	rs2608219	chr17:18321878-18321879	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs546389596	chr17:18321887-18321888	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs559589675	chr17:18321898-18321899	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs374510964	chr17:18321913-18321914	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs377569343	chr17:18321919-18321920	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs548505692	chr17:18321934-18321935	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs568091957	chr17:18321984-18321985	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs371101043	chr17:18322004-18322005	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs530977641	chr17:18322030-18322031	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs374133922	chr17:18322039-18322040	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs550785350	chr17:18322045-18322046	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs200425067	chr17:18322074-18322075	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:169)

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
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	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18318000-18320000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr17:18320200-18320400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr17:18320400-18320600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:18320400-18320600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr17:18324800-18326200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr17:18324800-18326400	Enhancers	Fetal Thymus	thymus
7	chr17:18333000-18333400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:18339400-18339800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr17:18351000-18351400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:18351200-18351400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:18351200-18351400	Enhancers	NHEK	skin
12	chr17:18351400-18352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:18351400-18353000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:18351400-18355400	Weak transcription	NHEK	skin
15	chr17:18352800-18353400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:18353000-18353200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:18353200-18353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:18353400-18353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:18353600-18354400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:18353600-18354600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:18354400-18354600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:18354600-18355400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:18354600-18355400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:18355400-18355600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:18355400-18355600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:18355400-18355800	Enhancers	NHEK	skin
27	chr17:18355600-18355800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:18355600-18355800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:18361000-18362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:18361600-18361800	Enhancers	Hela-S3	cervix
31	chr17:18361600-18362000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:18362000-18362400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:18362200-18362600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:18362200-18362600	Active TSS	A549	lung
35	chr17:18362200-18362800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:18362400-18362600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr17:18362400-18362600	Bivalent Enhancer	Fetal Lung	lung
38	chr17:18362400-18362600	Active TSS	Hela-S3	cervix
39	chr17:18362400-18362800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr17:18362400-18362800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:18362400-18362800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr17:18362400-18362800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:18362400-18362800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:18362400-18363400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr17:18362600-18362800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr17:18362600-18362800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr17:18362600-18362800	Flanking Active TSS	Hela-S3	cervix
48	chr17:18362600-18362800	Enhancers	Osteobl	bone
49	chr17:18362600-18372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:18367200-18367400	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links