Variant report

Variant	nsv817874
Chromosome Location	chr19:55595687-55614923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:55598275-55598696	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr19:55598407-55598765	GM12878	blood:	n/a	chr19:55598458-55598467
3	BRCA1	chr19:55598714-55598769	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr19:55598257-55598453	K562	blood:	n/a	chr19:55598263-55598272
5	CEBPZ	chr19:55596233-55596418	HepG2	liver:	n/a	n/a
6	CHD1	chr19:55598745-55598757	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr19:55599973-55600246	Hela-S3	cervix:	n/a	chr19:55600186-55600196
8	CHD2	chr19:55599519-55599583	K562	blood:	n/a	n/a
9	CHD2	chr19:55607617-55607645	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr19:55603295-55603713	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr19:55603947-55604047	H1-hESC	embryonic stem cell:	n/a	chr19:55603976-55603986
12	CHD2	chr19:55605988-55606164	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr19:55597948-55598830	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr19:55600000-55600150	GM12873	blood:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
15	CTCF	chr19:55605890-55606215	H1-hESC	embryonic stem cell:	n/a	chr19:55605984-55605997
16	CTCF	chr19:55611580-55611730	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr19:55611487-55611837	K562	blood:	n/a	n/a
18	CTCF	chr19:55607580-55607730	MCF-7	breast:	n/a	n/a
19	CTCF	chr19:55599860-55600010	RPTEC	kidney:	n/a	n/a
20	CTCF	chr19:55599917-55600215	A549	lung:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
21	CTCF	chr19:55610260-55610410	HCT-116	colon:	n/a	n/a
22	CTCF	chr19:55600012-55600238	H1-hESC	embryonic stem cell:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
23	CTCF	chr19:55611560-55611710	HMF	breast:	n/a	n/a
24	CTCF	chr19:55600020-55600170	GM12874	blood:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
25	CTCF	chr19:55610280-55610430	HepG2	liver:	n/a	n/a
26	CTCF	chr19:55610200-55610350	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr19:55600020-55600170	SAEC	small airway:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
28	CTCF	chr19:55610280-55610430	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr19:55611560-55611710	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr19:55599914-55600360	MCF-7	breast:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
31	CTCF	chr19:55610220-55610370	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr19:55600060-55600210	BE2_C	brain:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
33	CTCF	chr19:55611566-55611762	Gliobla	brain:	n/a	n/a
34	CTCF	chr19:55600020-55600170	HEK293	kidney:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
35	CTCF	chr19:55598580-55598730	AG04449	skin:	n/a	n/a
36	CTCF	chr19:55610289-55610414	GM12891	blood:	n/a	n/a
37	CTCF	chr19:55599980-55600130	GM12869	blood:	n/a	n/a
38	CTCF	chr19:55611680-55611708	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr19:55600020-55600170	HepG2	liver:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
40	CTCF	chr19:55600015-55600204	GM13976	blood:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
41	CTCF	chr19:55600040-55600190	GM12801	blood:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
42	CTCF	chr19:55600020-55600170	GM12872	blood:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
43	CTCF	chr19:55600040-55600190	HFF-Myc	foreskin:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
44	CTCF	chr19:55611440-55611590	GM12870	blood:	n/a	n/a
45	CTCF	chr19:55600020-55600170	Hela-S3	cervix:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
46	CTCF	chr19:55599928-55600166	A549	lung:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
47	CTCF	chr19:55600040-55600190	HMEC	breast:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
48	CTCF	chr19:55599976-55600186	SK-N-SH_RA	brain:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143
49	CTCF	chr19:55611560-55611710	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr19:55599991-55600220	Pancreas_OC	pancreas:	n/a	chr19:55600130-55600143 chr19:55600132-55600142 chr19:55600129-55600150 chr19:55600127-55600145 chr19:55600128-55600144 chr19:55600130-55600143

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55602822-55602872	HRE	kidney:	n/a
2	chr19:55598443-55598493	U87	brain:	n/a
3	chr19:55602822-55602872	HRE	kidney:	n/a
4	chr19:55598443-55598493	U87	brain:	n/a
5	chr19:55606078-55606128	NH-A	brain:	n/a
6	chr19:55598443-55598493	HepG2	liver:	n/a
7	chr19:55598874-55598924	HRPEpiC	eye:	n/a
8	chr19:55599320-55599370	GM12892	blood:	n/a
9	chr19:55610938-55610988	LNCaP	prostate:	n/a
10	chr19:55610938-55610988	NHBE	bronchial:	n/a
11	chr19:55611395-55611445	NHBE	bronchial:	n/a
12	chr19:55599320-55599370	AG09319	gingival:	n/a
13	chr19:55607746-55607796	HNPCEpiC	eye:	n/a
14	chr19:55598874-55598924	SK-N-SH	brain:	n/a
15	chr19:55602822-55602872	Caco-2	colon:	n/a
16	chr19:55595978-55596028	T-47D	breast:	n/a
17	chr19:55598443-55598493	AG09319	gingival:	n/a
18	chr19:55611395-55611445	AG04450	lung:	fetal
19	chr19:55598782-55598832	PANC-1	pancreas:	n/a
20	chr19:55598443-55598493	Hela-S3	cervix:	n/a
21	chr19:55598782-55598832	AG04450	lung:	fetal
22	chr19:55598443-55598493	BE2_C	brain:	n/a
23	chr19:55611395-55611445	GM19239	blood:	n/a
24	chr19:55598874-55598924	HRCEpiC	kidney:	n/a
25	chr19:55607746-55607796	ovcar-3	ovarian:	n/a
26	chr19:55595978-55596028	HRCEpiC	kidney:	n/a
27	chr19:55598782-55598832	GM19239	blood:	n/a
28	chr19:55611395-55611445	PANC-1	pancreas:	n/a
29	chr19:55598443-55598493	LNCaP	prostate:	n/a
30	chr19:55607746-55607796	HCT-116	colon:	n/a
31	chr19:55599320-55599370	IMR90	lung:	fetal
32	chr19:55599029-55599079	Hepatocyte	liver:	n/a
33	chr19:55599320-55599370	SK-N-SH_RA	brain:	n/a
34	chr19:55598874-55598924	MCF-7	breast:	n/a
35	chr19:55598782-55598832	NHDF-neo	bronchial:	n/a
36	chr19:55602822-55602872	HUVEC	blood vessel:	n/a
37	chr19:55598874-55598924	HL-60	blood:	n/a
38	chr19:55602822-55602872	AG10803	skin:	n/a
39	chr19:55606078-55606128	Caco-2	colon:	n/a
40	chr19:55596315-55596365	NHDF-neo	bronchial:	n/a
41	chr19:55598782-55598832	HL-60	blood:	n/a
42	chr19:55595978-55596028	Hela-S3	cervix:	n/a
43	chr19:55602822-55602872	AG04450	lung:	fetal
44	chr19:55599029-55599079	SKMC	muscle:	n/a
45	chr19:55595978-55596028	A549	lung:	n/a
46	chr19:55611395-55611445	NT2-D1	testis:	n/a
47	chr19:55599320-55599370	PrEC	prostate:	n/a
48	chr19:55599320-55599370	NHDF-neo	bronchial:	n/a
49	chr19:55596315-55596365	HCM	heart:	n/a
50	chr19:55596315-55596365	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55591466..55594430-chr19:55604044..55607280,3	K562	blood:
2	chr19:55593011..55595756-chr19:55610334..55612446,2	MCF-7	breast:
3	chr19:55590301..55596157-chr19:55624719..55630906,19	K562	blood:
4	chr19:55596751..55599239-chr19:55601936..55604534,2	MCF-7	breast:
5	chr19:55591269..55595027-chr19:55600800..55604307,4	MCF-7	breast:
6	chr19:55611452..55618868-chr19:55626160..55631612,12	K562	blood:
7	chr19:55593783..55596973-chr19:55605739..55609072,3	MCF-7	breast:
8	chr19:55592546..55594210-chr19:55609908..55612180,2	K562	blood:
9	chr19:55605766..55607789-chr19:55614065..55616285,2	K562	blood:
10	chr19:55609257..55613232-chr19:55613674..55618222,6	K562	blood:
11	chr19:55605820..55607459-chr20:33871029..33872830,2	K562	blood:
12	chr19:55597985..55600071-chr19:55626718..55628397,2	K562	blood:
13	chr19:55549659..55551205-chr19:55608941..55611105,2	K562	blood:
14	chr19:55609803..55612898-chr19:55614897..55617724,3	K562	blood:
15	chr19:55591561..55594163-chr19:55604044..55608526,4	K562	blood:
16	chr19:55606186..55608004-chr19:55668541..55670350,2	K562	blood:
17	chr19:55609257..55613232-chr19:55613674..55618222,6	K562	blood:
18	chr19:55601384..55605740-chr19:55625589..55630501,6	MCF-7	breast:
19	chr19:55596157..55598786-chr19:55610519..55612654,2	K562	blood:
20	chr19:55596751..55599239-chr19:55601936..55604534,2	MCF-7	breast:
21	chr19:55602846..55604950-chr19:55605722..55608309,2	MCF-7	breast:
22	chr19:55600794..55602436-chr19:55621159..55622928,2	K562	blood:
23	chr19:55602817..55605063-chr19:55607847..55611978,5	K562	blood:
24	chr19:55595496..55598225-chr19:55604695..55607232,3	K562	blood:
25	chr19:55599701..55601283-chr19:55870959..55872935,2	K562	blood:
26	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
27	chr19:55593783..55596973-chr19:55605739..55609072,3	MCF-7	breast:
28	chr19:55591753..55593275-chr19:55598361..55600388,2	MCF-7	breast:
29	chr19:55602846..55604950-chr19:55605722..55608309,2	MCF-7	breast:
30	chr14:103799761..103800266-chr19:55614152..55614910,2	Hela-S3	cervix:
31	chr19:55595496..55598225-chr19:55604695..55607232,3	K562	blood:
32	chr19:55602817..55605063-chr19:55607847..55611978,5	K562	blood:
33	chr19:55590464..55596493-chr19:55598673..55602443,7	MCF-7	breast:
34	chr19:55591759..55594046-chr19:55610178..55612180,2	K562	blood:
35	chr19:55589568..55594642-chr19:55594653..55598392,9	MCF-7	breast:
36	chr19:55596371..55599189-chr19:55766954..55768796,2	K562	blood:
37	chr19:55613614..55616655-chr19:55626160..55629067,3	K562	blood:
38	chr19:55599844..55600585-chr19:55657438..55658005,2	K562	blood:
39	chr19:55606533..55609893-chr19:55627288..55629671,4	MCF-7	breast:
40	chr19:55599509..55600587-chr19:55671358..55672598,4	K562	blood:
41	chr19:55602316..55604110-chr19:55605519..55607652,3	K562	blood:
42	chr19:55609803..55612898-chr19:55614897..55617724,3	K562	blood:
43	chr19:55610882..55614666-chr19:55626430..55628703,3	MCF-7	breast:
44	chr19:55597966..55599485-chr19:55626673..55628218,2	K562	blood:
45	chr19:55602316..55604110-chr19:55605519..55607652,3	K562	blood:
46	chr19:55392520..55393347-chr19:55599997..55600552,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RDH13-2	chr19:55608731-55608751	NONHSAT067992
2	lnc-RDH13-2	chr19:55608844-55609398	NONHSAT067992

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PPP1R12C	hsa-miR-32-5p	chr19:55602408-55602401
2	PPP1R12C	hsa-miR-32-5p	chr19:55602402-55602423

Variant related genes	Relation type
PPP1R12C	TF binding region
EPS8L1	TF binding region
PPP1R12C	CpG island
EPS8L1	CpG island
ENSG00000267110	chromatin interactions
ENSG00000100664	chromatin interactions
ENSG00000105063	chromatin interactions
ENSG00000131037	chromatin interactions
ENSG00000105048	chromatin interactions
ENSG00000267577	chromatin interactions
ENSG00000167646	chromatin interactions
ENSG00000125503	chromatin interactions
ENSG00000129991	chromatin interactions
ENSG00000242372	chromatin interactions

Extended variants
information (count: 1058 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1058 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572033302	chr19:55595739-55595740	Strong transcription Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540809593	chr19:55595764-55595765	Strong transcription Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376183773	chr19:55595789-55595790	Strong transcription Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573699655	chr19:55595842-55595843	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533262262	chr19:55595884-55595885	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs550199375	chr19:55595912-55595913	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs370883516	chr19:55595915-55595916	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs563639488	chr19:55595916-55595917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs529268802	chr19:55595956-55595957	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372290154	chr19:55595971-55595972	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs549420446	chr19:55595990-55595991	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566354488	chr19:55595997-55595998	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs115871519	chr19:55596018-55596019	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs145304128	chr19:55596047-55596048	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs551674281	chr19:55596049-55596050	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs571858137	chr19:55596055-55596056	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs537252117	chr19:55596121-55596122	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs45502193	chr19:55596178-55596179	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs73932296	chr19:55596179-55596180	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145752576	chr19:55596208-55596209	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs8112233	chr19:55596233-55596234	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571996551	chr19:55596253-55596254	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs549039612	chr19:55596275-55596276	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs541360144	chr19:55596283-55596284	Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs532943168	chr19:55596438-55596439	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs34534656	chr19:55596441-55596442	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs564224575	chr19:55596462-55596463	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs180848516	chr19:55596465-55596466	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs543266140	chr19:55596496-55596497	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs186195848	chr19:55596506-55596507	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs148945466	chr19:55596519-55596520	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs191116927	chr19:55596538-55596539	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs111922657	chr19:55596548-55596549	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs532915846	chr19:55596625-55596626	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs559825680	chr19:55596633-55596634	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs558710884	chr19:55596641-55596642	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs528792050	chr19:55596690-55596691	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs546427216	chr19:55596719-55596720	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs571858345	chr19:55596728-55596729	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs541259620	chr19:55596741-55596742	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs182545296	chr19:55596771-55596772	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs551377553	chr19:55596780-55596781	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs371499573	chr19:55596797-55596798	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs375506955	chr19:55596798-55596799	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs550918240	chr19:55596800-55596801	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs144429942	chr19:55596810-55596811	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs147814229	chr19:55596812-55596813	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs141485598	chr19:55596824-55596825	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs565288528	chr19:55596828-55596829	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs534330135	chr19:55596857-55596858	Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1355 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55592600-55602400	Weak transcription	Hela-S3	cervix
2	chr19:55592800-55598200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55593000-55598200	Weak transcription	A549	lung
4	chr19:55593800-55598000	Weak transcription	Right Atrium	heart
5	chr19:55593800-55620400	Weak transcription	HMEC	breast
6	chr19:55594000-55595800	Weak transcription	Esophagus	oesophagus
7	chr19:55594000-55597400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:55594000-55597600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:55594000-55598000	Weak transcription	Pancreas	Pancrea
10	chr19:55594000-55598200	Weak transcription	Gastric	stomach
11	chr19:55594400-55596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:55594600-55595800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:55594600-55597200	Weak transcription	K562	blood
14	chr19:55594800-55596000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:55594800-55597200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:55594800-55606000	Weak transcription	HepG2	liver
17	chr19:55595000-55596400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:55595200-55595800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:55595200-55597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:55595400-55595800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr19:55595600-55596000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr19:55595600-55597000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:55595800-55596200	Strong transcription	Esophagus	oesophagus
24	chr19:55595800-55596400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:55596000-55596200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:55596000-55597000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:55596000-55597200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr19:55596000-55597200	Strong transcription	Placenta	Placenta
29	chr19:55596200-55597200	Weak transcription	Esophagus	oesophagus
30	chr19:55596400-55597200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:55597000-55597200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:55597000-55597200	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr19:55597000-55597400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr19:55597000-55597400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:55597000-55597600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:55597000-55597600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:55597000-55597800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr19:55597200-55597400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:55597200-55597400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:55597200-55597400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:55597200-55597400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:55597200-55597400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr19:55597200-55597400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr19:55597200-55597400	ZNF genes & repeats	Esophagus	oesophagus
45	chr19:55597200-55597400	Bivalent Enhancer	Fetal Heart	heart
46	chr19:55597200-55597400	Genic enhancers	Placenta	Placenta
47	chr19:55597200-55597400	Enhancers	K562	blood
48	chr19:55597200-55597600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr19:55597200-55597600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr19:55597200-55597600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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