Variant report

Variant	esv2762610
Chromosome Location	chr17:18288994-18510158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1427)
CpG islands
(count:1832)
Chromatin interactive
region (count:3)
LncRNA
region (count:91)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1427 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:18467518-18467720	HepG2	liver:	n/a	n/a
2	ATF2	chr17:18314118-18314356	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr17:18362390-18362672	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr17:18472043-18472169	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr17:18355389-18355575	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr17:18496542-18496830	GM12878	blood:	n/a	n/a
7	BATF	chr17:18396335-18396562	GM12878	blood:	n/a	chr17:18396479-18396490
8	BATF	chr17:18301531-18301764	GM12878	blood:	n/a	n/a
9	BATF	chr17:18509282-18509509	GM12878	blood:	n/a	n/a
10	BATF	chr17:18379801-18380128	GM12878	blood:	n/a	n/a
11	BATF	chr17:18411051-18411300	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
12	BATF	chr17:18306836-18307314	GM12878	blood:	n/a	n/a
13	BATF	chr17:18483436-18483734	GM12878	blood:	n/a	n/a
14	BATF	chr17:18396259-18396664	GM12878	blood:	n/a	chr17:18396479-18396490
15	BATF	chr17:18379787-18380078	GM12878	blood:	n/a	n/a
16	BATF	chr17:18306799-18307466	GM12878	blood:	n/a	n/a
17	BATF	chr17:18509195-18509490	GM12878	blood:	n/a	n/a
18	BATF	chr17:18410950-18411370	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
19	BATF	chr17:18483425-18483804	GM12878	blood:	n/a	n/a
20	BATF	chr17:18467472-18467685	GM12878	blood:	n/a	n/a
21	BATF	chr17:18503769-18504272	GM12878	blood:	n/a	n/a
22	BCL11A	chr17:18424410-18424651	GM12878	blood:	n/a	n/a
23	BCL11A	chr17:18509267-18509452	GM12878	blood:	n/a	n/a
24	BCL11A	chr17:18379766-18380162	GM12878	blood:	n/a	n/a
25	BCL11A	chr17:18472933-18473174	H1-hESC	embryonic stem cell:	n/a	n/a
26	BCL11A	chr17:18378052-18378384	GM12878	blood:	n/a	n/a
27	BCL11A	chr17:18472981-18473247	H1-hESC	embryonic stem cell:	n/a	n/a
28	BCL11A	chr17:18483453-18483768	GM12878	blood:	n/a	n/a
29	BCL11A	chr17:18306911-18307191	GM12878	blood:	n/a	n/a
30	BCL11A	chr17:18379825-18380074	GM12878	blood:	n/a	n/a
31	BCL11A	chr17:18306873-18307246	GM12878	blood:	n/a	n/a
32	BCL11A	chr17:18503757-18504030	GM12878	blood:	n/a	n/a
33	BCL11A	chr17:18509177-18509596	GM12878	blood:	n/a	n/a
34	BCL3	chr17:18314773-18315245	A549	lung:	n/a	n/a
35	BHLHE40	chr17:18466647-18467016	K562	blood:	n/a	n/a
36	BHLHE40	chr17:18396537-18396565	K562	blood:	n/a	n/a
37	BHLHE40	chr17:18424672-18424862	GM12878	blood:	n/a	n/a
38	CEBPB	chr17:18322048-18322324	K562	blood:	n/a	n/a
39	CEBPB	chr17:18467516-18467710	MCF-7	breast:	n/a	n/a
40	CEBPB	chr17:18484451-18484641	A549	lung:	n/a	n/a
41	CEBPB	chr17:18467515-18467676	HepG2	liver:	n/a	n/a
42	CEBPB	chr17:18467487-18467735	A549	lung:	n/a	n/a
43	CEBPB	chr17:18509221-18509565	K562	blood:	n/a	n/a
44	CEBPB	chr17:18322055-18322251	K562	blood:	n/a	n/a
45	CEBPB	chr17:18322037-18322380	K562	blood:	n/a	n/a
46	CEBPB	chr17:18508664-18508935	K562	blood:	n/a	n/a
47	CEBPB	chr17:18318052-18318134	A549	lung:	n/a	chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111
48	CEBPB	chr17:18509247-18509490	K562	blood:	n/a	n/a
49	CEBPB	chr17:18484454-18484578	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr17:18362356-18362662	IMR90	lung:	n/a	chr17:18362363-18362376

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18476310-18476360	AG09319	gingival:	n/a
2	chr17:18313121-18313171	HepG2	liver:	n/a
3	chr17:18476310-18476360	AG09319	gingival:	n/a
4	chr17:18313121-18313171	HepG2	liver:	n/a
5	chr17:18476310-18476360	HMEC	breast:	n/a
6	chr17:18317909-18317959	HepG2	liver:	n/a
7	chr17:18302510-18302560	HCF	heart:	n/a
8	chr17:18429951-18430001	SK-N-SH_RA	brain:	n/a
9	chr17:18291699-18291749	Jurkat	blood:	n/a
10	chr17:18380354-18380404	AG09319	gingival:	n/a
11	chr17:18290668-18290718	NT2-D1	testis:	n/a
12	chr17:18476399-18476449	AG09309	skin:	n/a
13	chr17:18475978-18476028	SK-N-MC	brain:	n/a
14	chr17:18428092-18428142	HUVEC	blood vessel:	n/a
15	chr17:18295503-18295553	LNCaP	prostate:	n/a
16	chr17:18290668-18290718	AoSMC	blood vessel:	n/a
17	chr17:18428092-18428142	NHBE	bronchial:	n/a
18	chr17:18431043-18431093	AG09319	gingival:	n/a
19	chr17:18324895-18324945	ovcar-3	ovarian:	n/a
20	chr17:18295503-18295553	HL-60	blood:	n/a
21	chr17:18476310-18476360	AG10803	skin:	n/a
22	chr17:18325001-18325051	NHDF-neo	bronchial:	n/a
23	chr17:18378879-18378929	NH-A	brain:	n/a
24	chr17:18378879-18378929	AG10803	skin:	n/a
25	chr17:18305305-18305355	SK-N-MC	brain:	n/a
26	chr17:18380159-18380209	AG09319	gingival:	n/a
27	chr17:18430908-18430958	HRCEpiC	kidney:	n/a
28	chr17:18428092-18428142	HEK293	kidney:	embryo
29	chr17:18429951-18430001	HEEpiC	esophagus:	n/a
30	chr17:18475978-18476028	HMEC	breast:	n/a
31	chr17:18380159-18380209	GM12892	blood:	n/a
32	chr17:18295431-18295481	HRE	kidney:	n/a
33	chr17:18378879-18378929	HUVEC	blood vessel:	n/a
34	chr17:18397849-18397899	H1-hESC	embryonic stem cell:	embryo
35	chr17:18324790-18324840	Hepatocyte	liver:	n/a
36	chr17:18305305-18305355	MCF-7	breast:	n/a
37	chr17:18429951-18430001	K562	blood:	n/a
38	chr17:18421335-18421385	HPAEpiC	pulmonary alveolar:	n/a
39	chr17:18295503-18295553	CMK	blood:	n/a
40	chr17:18476059-18476109	BJ	skin:	n/a
41	chr17:18313048-18313098	HEEpiC	esophagus:	n/a
42	chr17:18378879-18378929	MCF-7	breast:	n/a
43	chr17:18295503-18295553	HAEpiC	amniotic membrane:	n/a
44	chr17:18379129-18379179	MCF-7	breast:	n/a
45	chr17:18430908-18430958	SK-N-SH	brain:	n/a
46	chr17:18476059-18476109	GM19239	blood:	n/a
47	chr17:18380159-18380209	HCM	heart:	n/a
48	chr17:18476310-18476360	RPTEC	kidney:	n/a
49	chr17:18430908-18430958	ECC-1	luminal epithelium:	n/a
50	chr17:18324790-18324840	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
2	chr17:18273227..18274953-chr17:18289917..18291736,2	K562	blood:
3	chr17:18222850..18223360-chr17:18466465..18467335,2	MCF-7	breast:

(count:91 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM106A-2	chr17:18427120-18427191	ENSG00000273018.1
2	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
3	lnc-AL353997.5.1-1	chr17:18328108-18328411	ENSG00000205266.5
4	lnc-FAM106A-2	chr17:18431900-18432061	ENSG00000273018.1
5	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
6	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
7	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
8	lnc-FAM106A-2	chr17:18444241-18444277	NONHSAT146384
9	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
10	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
11	lnc-FAM106A-2	chr17:18420604-18420787	NONHSAT146381
12	lnc-AL353997.5.1-2	chr17:18317468-18317702	XLOC_012131
13	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
14	lnc-FAM106A-2	chr17:18454820-18455008	ENSG00000273018.1
15	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
16	lnc-AL353997.5.1-1	chr17:18327635-18327951	ENSG00000205266.5
17	lnc-FAM106A-2	chr17:18426379-18426609	NONHSAT146382
18	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
19	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
20	lnc-FAM106A-2	chr17:18436661-18436852	ENSG00000273018.1
21	lnc-AL353997.5.1-2	chr17:18315660-18315807	XLOC_012131
22	lnc-FAM106A-2	chr17:18446987-18447029	ENSG00000273018.1
23	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
24	lnc-FAM106A-2	chr17:18427091-18427711	ENSG00000273018.1
25	lnc-AL353997.5.1-4	chr17:18344268-18344334	NONHSAT146373
26	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146381
27	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
28	lnc-AL353997.5.1-4	chr17:18343740-18343831	NONHSAT146373
29	lnc-FAM106A-2	chr17:18436661-18437376	ENSG00000273018.1
30	lnc-FAM106A-2	chr17:18420633-18420787	NONHSAT146382
31	lnc-FAM106A-2	chr17:18435820-18436192	ENSG00000273018.1
32	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
33	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
34	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
35	lnc-FAM106A-2	chr17:18436395-18436705	NONHSAT146384
36	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
37	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
38	lnc-FAM106A-2	chr17:18426965-18427191	ENSG00000273018.1
39	lnc-FAM106A-2	chr17:18431887-18432298	ENSG00000273018.1
40	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
41	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
42	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
43	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
44	lnc-FAM106A-2	chr17:18454820-18454999	ENSG00000273018.1
45	lnc-FAM106A-2	chr17:18446183-18446301	ENSG00000273018.1
46	lnc-FAM106A-2	chr17:18435820-18436348	ENSG00000273018.1
47	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
48	lnc-FAM106A-2	chr17:18431887-18432126	NONHSAT146381
49	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
50	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1

No data

Variant related genes	Relation type
ENSG00000205266	TF binding region
USP32P2	TF binding region
ENSG00000267492	TF binding region
KRT16P1	TF binding region
ENSG00000267441	TF binding region
YWHAEP2	TF binding region
EVPLL	TF binding region
KRT17P2	TF binding region
SRP68P2	TF binding region
NOS2P2	TF binding region
TBC1D3P4	TF binding region
ENSG00000264177	TF binding region
KRT16P4	TF binding region
LGALS9C	TF binding region
ENSG00000227919	TF binding region
RN7SL639P	TF binding region
TNPO1P2	TF binding region
ENSG00000240279	TF binding region
ENSG00000227077	TF binding region
FAM106A	TF binding region
ENSG00000220161	TF binding region
CCDC144B	TF binding region
ENSG00000273018	TF binding region
ENSG00000205266	CpG island
USP32P2	CpG island
ENSG00000267492	CpG island
KRT16P1	CpG island
ENSG00000267441	CpG island
YWHAEP2	CpG island
EVPLL	CpG island
KRT17P2	CpG island
SRP68P2	CpG island
NOS2P2	CpG island
TBC1D3P4	CpG island
ENSG00000264177	CpG island
KRT16P4	CpG island
LGALS9C	CpG island
ENSG00000227919	CpG island
RN7SL639P	CpG island
TNPO1P2	CpG island
ENSG00000240279	CpG island
ENSG00000227077	CpG island
FAM106A	CpG island
ENSG00000220161	CpG island
CCDC144B	CpG island
ENSG00000273018	CpG island
ENSG00000263946	chromatin interactions
KIAA0528	miRNA target sites
KIAA0664	miRNA target sites

Extended variants
information (count: 4772 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:4772 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539709090	chr17:18289049-18289050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370721037	chr17:18289127-18289128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181503829	chr17:18289173-18289174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186698218	chr17:18289175-18289176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535451698	chr17:18289182-18289183	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148435527	chr17:18289187-18289188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs2925934	chr17:18289188-18289189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575291053	chr17:18289196-18289197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1682278	chr17:18289201-18289202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1682279	chr17:18289207-18289208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1682280	chr17:18289210-18289211	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs564093915	chr17:18289217-18289218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577755304	chr17:18289226-18289227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111468137	chr17:18289243-18289244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs78985911	chr17:18289248-18289249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540085358	chr17:18289250-18289251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs560465558	chr17:18289288-18289289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529245598	chr17:18289289-18289290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191081697	chr17:18289336-18289337	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs562471508	chr17:18289341-18289342	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs142579339	chr17:18289363-18289364	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs151086884	chr17:18289396-18289397	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11870681	chr17:18289461-18289462	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373644655	chr17:18289497-18289498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144875887	chr17:18289498-18289499	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571287937	chr17:18289500-18289501	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540001322	chr17:18289581-18289582	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs546833573	chr17:18289583-18289584	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs566811559	chr17:18289599-18289600	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs545290110	chr17:18289613-18289614	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs147041835	chr17:18289615-18289616	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs555293161	chr17:18289648-18289649	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs569251446	chr17:18289700-18289701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148033503	chr17:18289734-18289735	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs200274082	chr17:18289744-18289745	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs11295053	chr17:18289747-18289748	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs180977837	chr17:18289761-18289762	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs578073255	chr17:18289817-18289818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540413986	chr17:18289834-18289835	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554019902	chr17:18289851-18289852	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs573936705	chr17:18289883-18289884	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542966155	chr17:18289919-18289920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7222009	chr17:18289923-18289924	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs141503181	chr17:18289935-18289936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs34778621	chr17:18289948-18289949	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs7222951	chr17:18289949-18289950	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs7221741	chr17:18289956-18289957	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs546747520	chr17:18290034-18290035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185801515	chr17:18290056-18290057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372308533	chr17:18290076-18290077	Inactive region	Chromatin interactive region	1 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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18283800-18289400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr17:18287800-18290000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:18289400-18289600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:18290800-18291400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:18291600-18292200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr17:18291600-18292200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr17:18291600-18292200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:18291600-18292600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr17:18291800-18292000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:18291800-18292200	Enhancers	Primary B cells from peripheral blood	blood
11	chr17:18291800-18292200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:18291800-18293600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:18292200-18292600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:18292200-18294400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:18292600-18293200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:18292600-18293400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:18293000-18293400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:18293400-18293600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:18293400-18293600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:18293400-18293600	Enhancers	Fetal Muscle Trunk	muscle
21	chr17:18294400-18294600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr17:18306600-18306800	Enhancers	GM12878-XiMat	blood
23	chr17:18306800-18314200	Weak transcription	GM12878-XiMat	blood
24	chr17:18307600-18308000	Enhancers	Primary B cells from peripheral blood	blood
25	chr17:18308000-18312400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr17:18311600-18312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:18312000-18312200	Enhancers	Fetal Thymus	thymus
28	chr17:18312200-18312400	Enhancers	Primary hematopoietic stem cells	blood
29	chr17:18312200-18312400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr17:18312200-18312400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:18312200-18312400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:18312200-18312400	Enhancers	Brain Cingulate Gyrus	brain
33	chr17:18312200-18312600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr17:18312200-18312600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:18312200-18312600	Active TSS	Fetal Brain Female	brain
36	chr17:18312200-18312600	Flanking Active TSS	Fetal Thymus	thymus
37	chr17:18312200-18312800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr17:18312200-18312800	Enhancers	Fetal Lung	lung
39	chr17:18312200-18313000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr17:18312200-18313000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr17:18312200-18313000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:18312200-18313000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr17:18312200-18313200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:18312200-18313200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:18312200-18313200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr17:18312200-18313200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:18312200-18313200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:18312200-18313200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr17:18312200-18313400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr17:18312200-18313600	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links