Variant report

Variant	esv3406564
Chromosome Location	chr19:56184365-56186913
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	ARID3A	chr19:56186610-56186756	K562	blood:	n/a	n/a
2	ATF1	chr19:56186266-56186704	K562	blood:	n/a	n/a
3	ATF2	chr19:56186204-56186638	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr19:56186206-56186678	GM12878	blood:	n/a	n/a
5	ATF2	chr19:56186139-56186778	GM12878	blood:	n/a	n/a
6	ATF3	chr19:56186217-56187024	A549	lung:	n/a	chr19:56186866-56186875 chr19:56186325-56186334 chr19:56186429-56186449
7	ATF3	chr19:56186241-56186747	A549	lung:	n/a	chr19:56186325-56186334 chr19:56186429-56186449
8	ATF3	chr19:56186340-56186606	K562	blood:	n/a	chr19:56186429-56186449
9	BACH1	chr19:56185057-56185064	K562	blood:	n/a	n/a
10	BACH1	chr19:56186361-56187170	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr19:56186208-56186733	GM12878	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
12	BCL11A	chr19:56186295-56186745	GM12878	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
13	BCL3	chr19:56185716-56186845	A549	lung:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
14	BCL3	chr19:56186092-56187354	A549	lung:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670 chr19:56187225-56187234
15	BCL3	chr19:56186033-56186922	K562	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
16	BCL3	chr19:56186172-56186811	GM12878	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
17	BCL3	chr19:56186250-56186829	GM12878	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
18	BCL3	chr19:56186278-56186718	K562	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
19	BCLAF1	chr19:56186343-56186814	K562	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
20	BCLAF1	chr19:56186215-56186948	GM12878	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
21	BCLAF1	chr19:56186254-56186860	K562	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
22	BCLAF1	chr19:56186262-56187012	GM12878	blood:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186657-56186670
23	BHLHE40	chr19:56186336-56186770	HepG2	liver:	n/a	n/a
24	BHLHE40	chr19:56186399-56186707	A549	lung:	n/a	n/a
25	BHLHE40	chr19:56186341-56186829	GM12878	blood:	n/a	n/a
26	BHLHE40	chr19:56184825-56185165	K562	blood:	n/a	n/a
27	BHLHE40	chr19:56186294-56186888	K562	blood:	n/a	n/a
28	BRCA1	chr19:56186428-56186712	GM12878	blood:	n/a	chr19:56186590-56186597
29	BRCA1	chr19:56186271-56186658	Hela-S3	cervix:	n/a	chr19:56186590-56186597
30	BRCA1	chr19:56186435-56186714	H1-hESC	embryonic stem cell:	n/a	chr19:56186590-56186597
31	BRCA1	chr19:56186325-56186547	HepG2	liver:	n/a	n/a
32	CBX3	chr19:56184780-56185447	K562	blood:	n/a	chr19:56185123-56185134
33	CBX3	chr19:56186157-56186737	K562	blood:	n/a	n/a
34	CCNT2	chr19:56186193-56187008	K562	blood:	n/a	chr19:56186619-56186628
35	CEBPB	chr19:56186363-56186756	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr19:56183324-56184434	K562	blood:	n/a	n/a
37	CEBPB	chr19:56184233-56184409	IMR90	lung:	n/a	n/a
38	CEBPB	chr19:56186374-56186637	Hela-S3	cervix:	n/a	n/a
39	CEBPD	chr19:56186190-56186708	K562	blood:	n/a	n/a
40	CEBPD	chr19:56186262-56186868	HepG2	liver:	n/a	n/a
41	CEBPD	chr19:56186297-56186560	HepG2	liver:	n/a	n/a
42	CHD1	chr19:56186446-56186792	GM12878	blood:	n/a	chr19:56186637-56186647
43	CHD2	chr19:56186266-56186769	H1-hESC	embryonic stem cell:	n/a	chr19:56186637-56186647
44	CHD2	chr19:56186213-56187072	K562	blood:	n/a	chr19:56186637-56186647
45	CHD2	chr19:56186225-56186816	HepG2	liver:	n/a	chr19:56186637-56186647
46	CHD2	chr19:56186239-56187133	Hela-S3	cervix:	n/a	chr19:56186637-56186647
47	CHD2	chr19:56186234-56187115	GM12878	blood:	n/a	chr19:56186637-56186647
48	CHD2	chr19:56184914-56185121	K562	blood:	n/a	n/a
49	CREB1	chr19:56186206-56187087	GM12878	blood:	n/a	n/a
50	CREB1	chr19:56186209-56186866	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56186477-56186527	PFSK-1	brain:	n/a
2	chr19:56186477-56186527	ProgFib	skin:	n/a
3	chr19:56186477-56186527	IMR90	lung:	fetal
4	chr19:56186515-56186565	ECC-1	luminal epithelium:	n/a
5	chr19:56186515-56186565	NHDF-neo	bronchial:	n/a
6	chr19:56186477-56186527	NB4	blood:	n/a
7	chr19:56186542-56186592	HRPEpiC	eye:	n/a
8	chr19:56186530-56186580	CMK	blood:	n/a
9	chr19:56186542-56186592	Hela-S3	cervix:	n/a
10	chr19:56186883-56186933	CMK	blood:	n/a
11	chr19:56186530-56186580	GM06990	blood:	n/a
12	chr19:56186542-56186592	AG09319	gingival:	n/a
13	chr19:56186883-56186933	HEEpiC	esophagus:	n/a
14	chr19:56185537-56185587	IMR90	lung:	fetal
15	chr19:56185417-56185467	Caco-2	colon:	n/a
16	chr19:56186477-56186527	Jurkat	blood:	n/a
17	chr19:56186542-56186592	Caco-2	colon:	n/a
18	chr19:56186515-56186565	LNCaP	prostate:	n/a
19	chr19:56186542-56186592	PrEC	prostate:	n/a
20	chr19:56186477-56186527	HUVEC	blood vessel:	n/a
21	chr19:56186542-56186592	BE2_C	brain:	n/a
22	chr19:56186515-56186565	ProgFib	skin:	n/a
23	chr19:56185537-56185587	SKMC	muscle:	n/a
24	chr19:56186477-56186527	HEK293	kidney:	embryo
25	chr19:56186883-56186933	Hepatocyte	liver:	n/a
26	chr19:56186530-56186580	A549	lung:	n/a
27	chr19:56186883-56186933	HCT-116	colon:	n/a
28	chr19:56186530-56186580	Jurkat	blood:	n/a
29	chr19:56186477-56186527	HMEC	breast:	n/a
30	chr19:56186883-56186933	GM12891	blood:	n/a
31	chr19:56186477-56186527	PrEC	prostate:	n/a
32	chr19:56186515-56186565	AoSMC	blood vessel:	n/a
33	chr19:56186477-56186527	NH-A	brain:	n/a
34	chr19:56186883-56186933	NH-A	brain:	n/a
35	chr19:56185537-56185587	SK-N-SH_RA	brain:	n/a
36	chr19:56185537-56185587	AG09319	gingival:	n/a
37	chr19:56186542-56186592	SAEC	small airway:	n/a
38	chr19:56186883-56186933	H1-hESC	embryonic stem cell:	embryo
39	chr19:56186530-56186580	AoSMC	blood vessel:	n/a
40	chr19:56186542-56186592	AG04450	lung:	fetal
41	chr19:56185417-56185467	HL-60	blood:	n/a
42	chr19:56186477-56186527	ECC-1	luminal epithelium:	n/a
43	chr19:56186477-56186527	HCT-116	colon:	n/a
44	chr19:56186515-56186565	HAEpiC	amniotic membrane:	n/a
45	chr19:56186530-56186580	AG09309	skin:	n/a
46	chr19:56185537-56185587	Hepatocyte	liver:	n/a
47	chr19:56186542-56186592	NHBE	bronchial:	n/a
48	chr19:56185537-56185587	ProgFib	skin:	n/a
49	chr19:56185537-56185587	Caco-2	colon:	n/a
50	chr19:56186530-56186580	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56152964..56155802-chr19:56186387..56188533,2	MCF-7	breast:
2	chr19:55918601..55920426-chr19:56186578..56189029,2	K562	blood:
3	chr19:56185642..56190165-chr19:56193908..56196750,4	MCF-7	breast:
4	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
5	chr19:56186135..56186635-chr21:46237432..46237966,2	Hela-S3	cervix:
6	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
7	chr19:56171886..56172422-chr19:56184594..56185375,2	K562	blood:
8	chr19:56182120..56185364-chr19:56187275..56191666,5	MCF-7	breast:
9	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
10	chr19:56172205..56174377-chr19:56183143..56185111,2	MCF-7	breast:
11	chr19:56158129..56161096-chr19:56185326..56187791,3	MCF-7	breast:
12	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP9-2	chr19:56186015-56186076	ENSG00000267523.1
2	lnc-NLRP9-2	chr19:56186015-56186081	ENSG00000267523.1

Variant related genes	Relation type
ENSG00000267523	TF binding region
EPN1	TF binding region
ENSG00000267523	CpG island
EPN1	CpG island
ENSG00000171425	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000173581	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000063245	chromatin interactions
ENSG00000269859	chromatin interactions
ENSG00000261221	chromatin interactions
ENSG00000211571	chromatin interactions
ENSG00000184900	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556240443	chr19:56184370-56184371	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs148243731	chr19:56184373-56184374	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs577321100	chr19:56184382-56184383	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs114554899	chr19:56184403-56184404	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs556887571	chr19:56184431-56184432	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs376358139	chr19:56184434-56184435	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs576856419	chr19:56184518-56184519	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs186600024	chr19:56184584-56184585	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs561976984	chr19:56184597-56184598	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs572422071	chr19:56184611-56184612	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs541140292	chr19:56184629-56184630	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs564605516	chr19:56184636-56184637	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs141900760	chr19:56184644-56184645	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs145563458	chr19:56184669-56184670	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs138085830	chr19:56184678-56184679	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs531527077	chr19:56184685-56184686	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs11376705	chr19:56184688-56184689	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs397764934	chr19:56184700-56184701	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs548154068	chr19:56184761-56184762	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs567928738	chr19:56184775-56184776	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs527302866	chr19:56184780-56184781	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs574808840	chr19:56184782-56184783	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs142366087	chr19:56184791-56184792	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs150504549	chr19:56184833-56184834	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs556826478	chr19:56184862-56184863	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs570350268	chr19:56184867-56184868	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs139536218	chr19:56184903-56184904	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs78831089	chr19:56184914-56184915	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs371902248	chr19:56184927-56184928	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs541423291	chr19:56184930-56184931	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs557957892	chr19:56184967-56184968	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs112693595	chr19:56185016-56185017	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs548733086	chr19:56185045-56185046	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs545571969	chr19:56185050-56185051	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs562376587	chr19:56185083-56185084	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs531416586	chr19:56185161-56185162	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs541729855	chr19:56185195-56185196	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs562025941	chr19:56185225-56185226	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs664684	chr19:56185250-56185251	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs149269403	chr19:56185259-56185260	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs368051544	chr19:56185276-56185277	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs570540752	chr19:56185279-56185280	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs147987516	chr19:56185320-56185321	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs372225276	chr19:56185356-56185357	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs141611535	chr19:56185371-56185372	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs150116395	chr19:56185392-56185393	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs138554269	chr19:56185410-56185411	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs369340285	chr19:56185438-56185439	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs372467427	chr19:56185439-56185440	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs549920806	chr19:56185446-56185447	Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Breast cancer	21509527	CNVD

Chromatin state (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170000-56184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:56170200-56185200	Strong transcription	Fetal Thymus	thymus
3	chr19:56170200-56185400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
5	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
7	chr19:56170800-56185400	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
9	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
10	chr19:56171200-56184600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:56171400-56185000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:56171400-56185400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr19:56172000-56185000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:56172200-56185000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:56172800-56184800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:56175400-56185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
19	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
20	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
21	chr19:56179800-56184800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:56179800-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:56179800-56185400	Strong transcription	NHEK	skin
24	chr19:56180200-56185600	Genic enhancers	Dnd41	blood
25	chr19:56181600-56185800	Genic enhancers	Liver	Liver
26	chr19:56181800-56185400	Strong transcription	GM12878-XiMat	blood
27	chr19:56182000-56184400	Strong transcription	HepG2	liver
28	chr19:56182000-56184800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr19:56182000-56184800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:56182000-56184800	Weak transcription	Fetal Lung	lung
31	chr19:56182000-56185200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:56182000-56185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:56182000-56185200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:56182000-56185200	Strong transcription	Fetal Muscle Leg	muscle
35	chr19:56182000-56185400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:56182000-56185600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:56182000-56185600	Weak transcription	HSMM	muscle
38	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
43	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
44	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
46	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
47	chr19:56182000-56185800	Weak transcription	HMEC	breast
48	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
49	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart

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