Variant report

Variant	nsv960762
Chromosome Location	chr19:40006922-40023016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:279)
CpG islands
(count:244)
Chromatin interactive
region (count:44)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr19:40022437-40023864	A549	lung:	n/a	n/a
2	ATF3	chr19:40022709-40023859	A549	lung:	n/a	n/a
3	BACH1	chr19:40022529-40022572	K562	blood:	n/a	n/a
4	BATF	chr19:40014988-40015374	GM12878	blood:	n/a	n/a
5	BATF	chr19:40015009-40015290	GM12878	blood:	n/a	n/a
6	BCL11A	chr19:40015115-40015288	GM12878	blood:	n/a	n/a
7	BCL3	chr19:40022619-40023847	A549	lung:	n/a	n/a
8	BHLHE40	chr19:40022786-40023724	K562	blood:	n/a	n/a
9	BHLHE40	chr19:40012276-40012292	K562	blood:	n/a	n/a
10	BHLHE40	chr19:40010842-40010987	K562	blood:	n/a	n/a
11	CEBPB	chr19:40022778-40023074	A549	lung:	n/a	n/a
12	CEBPB	chr19:40022228-40022511	K562	blood:	n/a	chr19:40022343-40022354
13	CEBPB	chr19:40010849-40010960	K562	blood:	n/a	n/a
14	CEBPB	chr19:40022759-40023131	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr19:40022198-40022466	HepG2	liver:	n/a	chr19:40022343-40022354
16	CEBPB	chr19:40022764-40023190	K562	blood:	n/a	n/a
17	CEBPB	chr19:40022205-40022492	A549	lung:	n/a	chr19:40022343-40022354
18	CEBPB	chr19:40022848-40023115	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr19:40022938-40023218	GM12878	blood:	n/a	n/a
20	CHD2	chr19:40022878-40023763	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr19:40022876-40023669	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr19:40022847-40023778	A549	lung:	n/a	n/a
23	CTCF	chr19:40022700-40022850	BE2_C	brain:	n/a	n/a
24	CTCF	chr19:40009100-40009250	HMEC	breast:	n/a	n/a
25	CTCF	chr19:40009260-40009410	HEK293	kidney:	n/a	n/a
26	CTCF	chr19:40022821-40023930	SK-N-SH	brain:	n/a	n/a
27	CTCF	chr19:40009000-40009150	HEK293	kidney:	n/a	n/a
28	CTCF	chr19:40009220-40009370	K562	blood:	n/a	n/a
29	CTCF	chr19:40009247-40009349	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr19:40022001-40025161	A549	lung:	n/a	n/a
31	CTCF	chr19:40009232-40009382	K562	blood:	n/a	n/a
32	CTCF	chr19:40009240-40009390	K562	blood:	n/a	n/a
33	CTCF	chr19:40012511-40012533	GM20000	blood:	n/a	n/a
34	CTCF	chr19:40009341-40009343	K562	blood:	n/a	n/a
35	CTCF	chr19:40009239-40009339	K562	blood:	n/a	n/a
36	CUX1	chr19:40009587-40009774	K562	blood:	n/a	n/a
37	E2F4	chr19:40022962-40023718	K562	blood:	n/a	chr19:40023502-40023511 chr19:40023553-40023562
38	E2F6	chr19:40022889-40023707	K562	blood:	n/a	chr19:40023502-40023511 chr19:40023553-40023562
39	E2F6	chr19:40022770-40023840	A549	lung:	n/a	chr19:40023502-40023511 chr19:40023553-40023562
40	E2F6	chr19:40022605-40023802	A549	lung:	n/a	chr19:40023502-40023511 chr19:40023553-40023562
41	E2F6	chr19:40022899-40023109	K562	blood:	n/a	n/a
42	ELF1	chr19:40022725-40023758	A549	lung:	n/a	n/a
43	ELF1	chr19:40022848-40023689	GM12878	blood:	n/a	n/a
44	EP300	chr19:40010698-40010879	K562	blood:	n/a	n/a
45	EP300	chr19:40022698-40023908	A549	lung:	n/a	n/a
46	EP300	chr19:40022572-40023853	K562	blood:	n/a	n/a
47	EP300	chr19:40006954-40007116	GM12878	blood:	n/a	n/a
48	ETS1	chr19:40022696-40023864	A549	lung:	n/a	n/a
49	ETS1	chr19:40022999-40023308	K562	blood:	n/a	n/a
50	FOS	chr19:40022889-40023002	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40009835-40009885	ovcar-3	ovarian:	n/a
2	chr19:40019862-40019912	HL-60	blood:	n/a
3	chr19:40019862-40019912	SK-N-SH_RA	brain:	n/a
4	chr19:40022828-40022878	GM12891	blood:	n/a
5	chr19:40019862-40019912	HRPEpiC	eye:	n/a
6	chr19:40007922-40007972	NH-A	brain:	n/a
7	chr19:40022828-40022878	ProgFib	skin:	n/a
8	chr19:40019862-40019912	T-47D	breast:	n/a
9	chr19:40007922-40007972	Hela-S3	cervix:	n/a
10	chr19:40007922-40007972	H1-hESC	embryonic stem cell:	embryo
11	chr19:40022828-40022878	NHDF-neo	bronchial:	n/a
12	chr19:40019862-40019912	RPTEC	kidney:	n/a
13	chr19:40007922-40007972	AoSMC	blood vessel:	n/a
14	chr19:40009835-40009885	SK-N-SH_RA	brain:	n/a
15	chr19:40022828-40022878	HMEC	breast:	n/a
16	chr19:40022828-40022878	AG10803	skin:	n/a
17	chr19:40007922-40007972	NT2-D1	testis:	n/a
18	chr19:40019862-40019912	HAEpiC	amniotic membrane:	n/a
19	chr19:40007922-40007972	SK-N-SH	brain:	n/a
20	chr19:40019862-40019912	AG09319	gingival:	n/a
21	chr19:40022828-40022878	CMK	blood:	n/a
22	chr19:40022828-40022878	AoSMC	blood vessel:	n/a
23	chr19:40007922-40007972	BE2_C	brain:	n/a
24	chr19:40022828-40022878	SK-N-SH	brain:	n/a
25	chr19:40007922-40007972	Jurkat	blood:	n/a
26	chr19:40009835-40009885	HRE	kidney:	n/a
27	chr19:40022828-40022878	ECC-1	luminal epithelium:	n/a
28	chr19:40009835-40009885	BJ	skin:	n/a
29	chr19:40009835-40009885	T-47D	breast:	n/a
30	chr19:40007922-40007972	GM12892	blood:	n/a
31	chr19:40019862-40019912	GM06990	blood:	n/a
32	chr19:40009835-40009885	SK-N-SH	brain:	n/a
33	chr19:40007922-40007972	SAEC	small airway:	n/a
34	chr19:40007922-40007972	LNCaP	prostate:	n/a
35	chr19:40009835-40009885	PANC-1	pancreas:	n/a
36	chr19:40007922-40007972	HCT-116	colon:	n/a
37	chr19:40009835-40009885	NHBE	bronchial:	n/a
38	chr19:40007922-40007972	HEK293	kidney:	embryo
39	chr19:40009835-40009885	HepG2	liver:	n/a
40	chr19:40007922-40007972	SK-N-SH_RA	brain:	n/a
41	chr19:40019862-40019912	HRE	kidney:	n/a
42	chr19:40007922-40007972	HCPEpiC	choroid plexus:	n/a
43	chr19:40022828-40022878	BE2_C	brain:	n/a
44	chr19:40009835-40009885	HMEC	breast:	n/a
45	chr19:40019862-40019912	HEK293	kidney:	embryo
46	chr19:40007922-40007972	AG09319	gingival:	n/a
47	chr19:40007922-40007972	HCM	heart:	n/a
48	chr19:40022828-40022878	NH-A	brain:	n/a
49	chr19:40022828-40022878	GM12878	blood:	n/a
50	chr19:40007922-40007972	HNPCEpiC	eye:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39898615..39904728-chr19:40019936..40025504,8	K562	blood:
2	chr19:39970685..39973008-chr19:40008116..40011031,2	MCF-7	breast:
3	chr19:39964931..39967106-chr19:40012497..40014185,2	K562	blood:
4	chr19:40010850..40013906-chr19:40015655..40017773,3	K562	blood:
5	chr19:40019907..40024445-chr19:40029285..40031709,4	MCF-7	breast:
6	chr19:39892567..39894706-chr19:40016383..40018403,2	K562	blood:
7	chr19:40004361..40006342-chr19:40008236..40011179,2	K562	blood:
8	chr19:39996434..39999971-chr19:40007133..40012367,8	K562	blood:
9	chr19:39935271..39937626-chr19:40014654..40016231,2	K562	blood:
10	chr19:40009851..40011613-chr19:40024915..40027349,2	MCF-7	breast:
11	chr19:39993528..39996626-chr19:40010694..40012599,3	K562	blood:
12	chr19:40007684..40010217-chr19:40028799..40031419,2	K562	blood:
13	chr19:39925397..39928122-chr19:40019873..40021401,2	K562	blood:
14	chr19:40023014..40023615-chr5:65439737..65440573,2	Hela-S3	cervix:
15	chr19:40008327..40011213-chr19:40021450..40023103,2	K562	blood:
16	chr19:39969179..39972823-chr19:40019268..40024259,8	K562	blood:
17	chr19:40016281..40019888-chr19:40020670..40023558,4	K562	blood:
18	chr19:39939856..39941421-chr19:40009261..40011843,2	K562	blood:
19	chr19:39898615..39903463-chr19:40021264..40024360,6	K562	blood:
20	chr19:39961748..39964722-chr19:40022955..40025016,3	K562	blood:
21	chr19:39881003..39882919-chr19:40020303..40023234,2	K562	blood:
22	chr19:40009365..40013772-chr19:40013811..40019532,6	K562	blood:
23	chr19:39987449..39990111-chr19:40010646..40012168,2	K562	blood:
24	chr19:40009271..40012163-chr19:40025249..40026752,2	K562	blood:
25	chr19:39880509..39882503-chr19:40021734..40025038,3	K562	blood:
26	chr19:39925075..39926642-chr19:40022135..40025107,3	K562	blood:
27	chr19:39902534..39904778-chr19:40022453..40024067,3	MCF-7	breast:
28	chr19:39935867..39937651-chr19:40022035..40024212,2	MCF-7	breast:
29	chr19:40005114..40007099-chr19:40009301..40012278,2	K562	blood:
30	chr19:39969762..39972823-chr19:40020818..40024781,5	K562	blood:
31	chr19:39934791..39938517-chr19:40022234..40026334,4	K562	blood:
32	chr19:39898397..39900372-chr19:40006194..40008008,2	K562	blood:
33	chr19:40021563..40023552-chr19:40334495..40337354,2	K562	blood:
34	chr15:59224951..59225680-chr19:40022590..40023096,2	Hela-S3	cervix:
35	chr19:40010850..40013906-chr19:40015655..40017773,3	K562	blood:
36	chr19:40008044..40009620-chr19:40022732..40025269,2	MCF-7	breast:
37	chr19:40017029..40019869-chr19:40021904..40023558,2	K562	blood:
38	chr19:40009365..40013772-chr19:40013811..40019532,6	K562	blood:
39	chr19:39963222..39966724-chr19:40022598..40024872,4	K562	blood:
40	chr19:40008253..40012743-chr19:40028297..40031526,4	MCF-7	breast:
41	chr19:39988746..39992361-chr19:40020493..40024366,5	MCF-7	breast:
42	chr19:40017074..40019334-chr19:40023561..40025956,4	K562	blood:
43	chr19:39923160..39926894-chr19:40022027..40025011,8	K562	blood:
44	chr19:40008391..40010217-chr19:40029919..40032075,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EID2B-1	chr19:40013150-40013270	ucscGeneNc_uc002nwj_2
2	lnc-EID2B-1	chr19:40015074-40015280	ucscGeneNc_uc002nwj_2
3	lnc-SELV.1-1	chr19:40018847-40020008	NONHSAT066308
4	lnc-EID2B-1	chr19:40011908-40011997	ucscGeneNc_uc002nwj_2
5	lnc-EID2B-1	chr19:40015469-40015613	ucscGeneNc_uc002nwj_2
6	lnc-SELV.1-1	chr19:40018980-40019183	XLOC_013072
7	lnc-EID2-1	chr19:40021977-40022153	NONHSAT066310
8	lnc-SELV.1-1	chr19:40019263-40019553	XLOC_013072
9	lnc-DLL3-1	chr19:40009380-40009448	NONHSAT066307

No data

Variant related genes	Relation type
ENSG00000269792	TF binding region
TDGF1P7	TF binding region
ENSG00000269792	CpG island
TDGF1P7	CpG island
ENSG00000269584	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000186838	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000176401	chromatin interactions
ENSG00000090924	chromatin interactions
ENSG00000137776	chromatin interactions
ENSG00000105197	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000269792	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000090932	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000176396	chromatin interactions

Extended variants
information (count: 701 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537281767	chr19:40006925-40006926	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552755302	chr19:40006960-40006961	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571133759	chr19:40007009-40007010	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535342907	chr19:40007045-40007046	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138418658	chr19:40007052-40007053	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574529846	chr19:40007062-40007063	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143879239	chr19:40007068-40007069	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186493916	chr19:40007124-40007125	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549330133	chr19:40007128-40007129	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs537607967	chr19:40007154-40007155	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567543593	chr19:40007156-40007157	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141374967	chr19:40007247-40007248	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74178082	chr19:40007334-40007335	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540886386	chr19:40007335-40007336	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575311006	chr19:40007416-40007417	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192718823	chr19:40007461-40007462	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35805625	chr19:40007496-40007497	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113574964	chr19:40007509-40007510	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75014864	chr19:40007518-40007519	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78523686	chr19:40007519-40007520	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373814740	chr19:40007542-40007543	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143285724	chr19:40007544-40007545	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs377482403	chr19:40007547-40007548	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540176016	chr19:40007563-40007564	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369186459	chr19:40007582-40007583	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs574581169	chr19:40007585-40007586	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185538732	chr19:40007600-40007601	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190791999	chr19:40007627-40007628	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563598667	chr19:40007628-40007629	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs73551879	chr19:40007654-40007655	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552449907	chr19:40007655-40007656	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs61216770	chr19:40007683-40007684	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73551881	chr19:40007699-40007700	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371582083	chr19:40007703-40007704	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547343594	chr19:40007709-40007710	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192874713	chr19:40007716-40007717	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535070638	chr19:40007823-40007824	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556938095	chr19:40007848-40007849	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575201466	chr19:40007857-40007858	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141403926	chr19:40007922-40007923	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150830588	chr19:40007962-40007963	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs55715307	chr19:40007965-40007966	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540115521	chr19:40007970-40007971	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs561683780	chr19:40007974-40007975	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573895484	chr19:40007981-40007982	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs75826804	chr19:40007997-40007998	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184647870	chr19:40008004-40008005	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563705977	chr19:40008014-40008015	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189160309	chr19:40008015-40008016	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs546362423	chr19:40008034-40008035	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40005200-40007200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:40005200-40007400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:40005200-40007800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:40005400-40007000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:40005400-40007000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr19:40005400-40007200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:40005400-40007200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:40005400-40007200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr19:40005400-40007200	Active TSS	Fetal Kidney	kidney
10	chr19:40005600-40007000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:40005600-40007000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:40005600-40007000	Bivalent Enhancer	Fetal Brain Male	brain
13	chr19:40005600-40007000	Bivalent/Poised TSS	HepG2	liver
14	chr19:40005600-40007200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:40005600-40007200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:40005600-40007400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:40005600-40007400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:40005600-40007800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:40005600-40008000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr19:40005800-40007000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
21	chr19:40005800-40007200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:40005800-40007200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:40005800-40007200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:40006200-40007000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:40006200-40007000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:40006200-40007000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:40006400-40007000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr19:40006400-40007000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr19:40006400-40007000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr19:40006400-40007000	Bivalent Enhancer	Fetal Thymus	thymus
31	chr19:40006400-40007200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr19:40006600-40007000	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr19:40006600-40007000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr19:40006600-40007000	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr19:40006600-40007000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
36	chr19:40006600-40007000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr19:40006600-40007000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr19:40006600-40007000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr19:40006600-40022800	Weak transcription	Lung	lung
40	chr19:40006800-40007000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr19:40006800-40007000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:40006800-40007000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr19:40006800-40007000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr19:40006800-40007000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:40006800-40007000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:40006800-40007000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:40006800-40007000	Enhancers	Brain Angular Gyrus	brain
48	chr19:40006800-40007000	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr19:40006800-40007000	Enhancers	Ovary	ovary
50	chr19:40006800-40007000	Enhancers	Right Ventricle	heart

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