Variant report

Variant	nsv912107
Chromosome Location	chr19:44030998-44055726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1225)
CpG islands
(count:1651)
Chromatin interactive
region (count:41)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:44037216-44038211	K562	blood:	n/a	n/a
2	ARID3A	chr19:44031314-44031465	HepG2	liver:	n/a	n/a
3	ATF3	chr19:44037905-44038352	K562	blood:	n/a	chr19:44038151-44038160
4	ATF3	chr19:44036820-44037607	A549	lung:	n/a	n/a
5	ATF3	chr19:44036698-44037626	A549	lung:	n/a	n/a
6	BACH1	chr19:44039675-44039881	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr19:44037125-44037707	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr19:44036793-44036847	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr19:44036590-44038115	A549	lung:	n/a	chr19:44037027-44037035
10	BCL3	chr19:44036515-44037673	A549	lung:	n/a	chr19:44037027-44037035
11	BCL3	chr19:44030855-44031768	A549	lung:	n/a	chr19:44031412-44031421 chr19:44031418-44031427 chr19:44031410-44031423
12	BCL3	chr19:44037087-44037736	GM12878	blood:	n/a	n/a
13	BCLAF1	chr19:44036977-44037573	GM12878	blood:	n/a	chr19:44037027-44037035
14	BHLHE40	chr19:44036907-44038201	K562	blood:	n/a	chr19:44037302-44037318
15	BHLHE40	chr19:44052942-44053136	K562	blood:	n/a	n/a
16	BHLHE40	chr19:44031209-44031685	GM12878	blood:	n/a	chr19:44031408-44031424
17	BHLHE40	chr19:44030980-44031656	K562	blood:	n/a	chr19:44031408-44031424
18	BHLHE40	chr19:44036786-44037694	GM12878	blood:	n/a	chr19:44037302-44037318
19	BRCA1	chr19:44037810-44038182	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr19:44037268-44037551	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr19:44037851-44037991	GM12878	blood:	n/a	n/a
22	BRCA1	chr19:44037115-44037534	GM12878	blood:	n/a	n/a
23	CBX3	chr19:44037855-44038508	K562	blood:	n/a	n/a
24	CBX3	chr19:44037097-44037694	K562	blood:	n/a	n/a
25	CBX3	chr19:44052900-44053225	K562	blood:	n/a	n/a
26	CBX3	chr19:44031157-44031700	K562	blood:	n/a	n/a
27	CBX3	chr19:44043030-44043443	K562	blood:	n/a	n/a
28	CCNT2	chr19:44037093-44037788	K562	blood:	n/a	chr19:44037644-44037653
29	CCNT2	chr19:44039171-44039371	K562	blood:	n/a	n/a
30	CCNT2	chr19:44038037-44038629	K562	blood:	n/a	chr19:44038102-44038111 chr19:44038151-44038160
31	CCNT2	chr19:44031156-44031594	K562	blood:	n/a	n/a
32	CEBPB	chr19:44037126-44037485	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr19:44037882-44038376	MCF-7	breast:	n/a	n/a
34	CEBPB	chr19:44037997-44038216	HepG2	liver:	n/a	n/a
35	CEBPB	chr19:44037932-44038353	A549	lung:	n/a	n/a
36	CEBPB	chr19:44037917-44038337	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr19:44037882-44038415	MCF-7	breast:	n/a	n/a
38	CEBPB	chr19:44037028-44037665	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr19:44037894-44038361	IMR90	lung:	n/a	n/a
40	CEBPB	chr19:44036754-44038423	A549	lung:	n/a	n/a
41	CEBPB	chr19:44035692-44035773	K562	blood:	n/a	n/a
42	CEBPB	chr19:44038001-44038198	K562	blood:	n/a	n/a
43	CEBPB	chr19:44037854-44038395	K562	blood:	n/a	n/a
44	CEBPB	chr19:44037954-44038442	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr19:44037919-44038340	K562	blood:	n/a	n/a
46	CEBPD	chr19:44031153-44031498	HepG2	liver:	n/a	n/a
47	CHD1	chr19:44036815-44038043	GM12878	blood:	n/a	n/a
48	CHD1	chr19:44036866-44037346	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr19:44031114-44031347	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr19:44036919-44038321	Hela-S3	cervix:	n/a	n/a

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44031801-44031851	AG09319	gingival:	n/a
2	chr19:44037044-44037094	BE2_C	brain:	n/a
3	chr19:44039345-44039395	NT2-D1	testis:	n/a
4	chr19:44031589-44031639	GM12878	blood:	n/a
5	chr19:44031801-44031851	AG09319	gingival:	n/a
6	chr19:44037044-44037094	BE2_C	brain:	n/a
7	chr19:44039345-44039395	NT2-D1	testis:	n/a
8	chr19:44031589-44031639	GM12878	blood:	n/a
9	chr19:44031385-44031435	SK-N-MC	brain:	n/a
10	chr19:44031801-44031851	HUVEC	blood vessel:	n/a
11	chr19:44037866-44037916	AG04450	lung:	fetal
12	chr19:44031497-44031547	HEEpiC	esophagus:	n/a
13	chr19:44031801-44031851	BJ	skin:	n/a
14	chr19:44031385-44031435	A549	lung:	n/a
15	chr19:44039475-44039525	NH-A	brain:	n/a
16	chr19:44039475-44039525	HAEpiC	amniotic membrane:	n/a
17	chr19:44031305-44031355	AG10803	skin:	n/a
18	chr19:44031390-44031440	GM19239	blood:	n/a
19	chr19:44031385-44031435	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:44031473-44031523	ProgFib	skin:	n/a
21	chr19:44039446-44039496	HUVEC	blood vessel:	n/a
22	chr19:44037336-44037386	HL-60	blood:	n/a
23	chr19:44040457-44040507	NT2-D1	testis:	n/a
24	chr19:44039755-44039805	U87	brain:	n/a
25	chr19:44037336-44037386	GM12891	blood:	n/a
26	chr19:44031801-44031851	PFSK-1	brain:	n/a
27	chr19:44039475-44039525	LNCaP	prostate:	n/a
28	chr19:44031473-44031523	A549	lung:	n/a
29	chr19:44031473-44031523	CMK	blood:	n/a
30	chr19:44039870-44039920	T-47D	breast:	n/a
31	chr19:44031801-44031851	HAEpiC	amniotic membrane:	n/a
32	chr19:44037044-44037094	HCPEpiC	choroid plexus:	n/a
33	chr19:44037866-44037916	ProgFib	skin:	n/a
34	chr19:44037044-44037094	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:44037336-44037386	T-47D	breast:	n/a
36	chr19:44037866-44037916	HEK293	kidney:	embryo
37	chr19:44031385-44031435	GM12891	blood:	n/a
38	chr19:44031385-44031435	AoSMC	blood vessel:	n/a
39	chr19:44037103-44037153	HIPEpiC	eye:	n/a
40	chr19:44031497-44031547	MCF-7	breast:	n/a
41	chr19:44039345-44039395	PrEC	prostate:	n/a
42	chr19:44031385-44031435	HCF	heart:	n/a
43	chr19:44039446-44039496	CMK	blood:	n/a
44	chr19:44031473-44031523	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:44038009-44038059	SK-N-SH_RA	brain:	n/a
46	chr19:44037225-44037275	HEK293	kidney:	embryo
47	chr19:44031589-44031639	AG04450	lung:	fetal
48	chr19:44031801-44031851	Hepatocyte	liver:	n/a
49	chr19:44037015-44037065	SK-N-MC	brain:	n/a
50	chr19:44040457-44040507	HNPCEpiC	eye:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44036203..44038928-chr19:44171420..44174647,3	K562	blood:
2	chr19:44036790..44040633-chr19:44098075..44102401,5	K562	blood:
3	chr19:44049826..44052731-chr19:44057585..44060177,2	MCF-7	breast:
4	chr19:44048671..44051065-chr19:44122727..44124528,2	K562	blood:
5	chr19:43967717..43971076-chr19:44036987..44039699,3	MCF-7	breast:
6	chr19:44036171..44040014-chr19:44052503..44054920,3	MCF-7	breast:
7	chr19:44031462..44033806-chr19:44035675..44037338,2	K562	blood:
8	chr19:44039696..44040586-chr19:44098839..44099508,2	MCF-7	breast:
9	chr19:44036740..44039638-chr19:44122133..44124023,3	MCF-7	breast:
10	chr19:44043152..44044968-chr19:44172029..44173702,2	K562	blood:
11	chr19:44038911..44040876-chr19:44098980..44100520,2	MCF-7	breast:
12	chr19:44039370..44040276-chr19:44098609..44099275,2	MCF-7	breast:
13	chr19:44039330..44040261-chr19:44156526..44157074,2	MCF-7	breast:
14	chr19:44029421..44031405-chr19:44036593..44038198,2	K562	blood:
15	chr19:44048400..44050910-chr19:44143121..44145462,2	MCF-7	breast:
16	chr19:44035923..44038107-chr19:44078243..44080720,2	MCF-7	breast:
17	chr19:44036787..44038928-chr19:44171420..44173895,2	K562	blood:
18	chr19:44038066..44039609-chr19:44044499..44046745,2	K562	blood:
19	chr19:44036790..44039764-chr19:44099068..44102401,4	K562	blood:
20	chr19:44046417..44049052-chr19:44049423..44052069,2	MCF-7	breast:
21	chr19:44036636..44039609-chr19:44043480..44045999,2	K562	blood:
22	chr19:44029421..44031405-chr19:44036593..44038198,2	K562	blood:
23	chr19:44031702..44033799-chr19:44122293..44123796,2	K562	blood:
24	chr19:44029247..44034379-chr19:44035166..44038879,9	MCF-7	breast:
25	chr19:44032729..44034303-chr19:44080359..44082988,2	K562	blood:
26	chr19:44050644..44056032-chr19:44057547..44060902,6	K562	blood:
27	chr19:44029247..44034379-chr19:44035166..44038879,9	MCF-7	breast:
28	chr19:44046417..44049052-chr19:44049423..44052069,2	MCF-7	breast:
29	chr19:44036736..44038487-chr19:44172015..44174560,2	MCF-7	breast:
30	chr19:43966406..43968657-chr19:44031869..44033375,2	K562	blood:
31	chr19:44051958..44054439-chr19:44057547..44062294,4	K562	blood:
32	chr19:44037962..44039566-chr19:44122300..44125209,2	MCF-7	breast:
33	chr19:44036786..44040035-chr19:44171480..44174677,5	MCF-7	breast:
34	chr19:44007568..44009583-chr19:44036201..44039639,3	MCF-7	breast:
35	chr19:44036629..44040127-chr19:44122528..44124622,4	K562	blood:
36	chr19:44038066..44039609-chr19:44044499..44046745,2	K562	blood:
37	chr19:44034271..44036948-chr19:44127770..44129771,2	K562	blood:
38	chr19:44028119..44031033-chr19:44098735..44101211,2	MCF-7	breast:
39	chr19:43937232..43939100-chr19:44037778..44039902,2	MCF-7	breast:
40	chr19:44036185..44038265-chr19:44078295..44081409,3	K562	blood:
41	chr19:44006689..44009864-chr19:44027261..44031051,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-L34079.1-4	chr19:44037947-44038418	NONHSAT066599
2	lnc-L34079.1-4	chr19:44037588-44037673	NONHSAT066599

No data

Variant related genes	Relation type
ZNF575	TF binding region
ETHE1	TF binding region
ENSG00000269177	TF binding region
ZNF575	CpG island
ETHE1	CpG island
ENSG00000269177	CpG island
ENSG00000269177	chromatin interactions
ENSG00000131116	chromatin interactions
ENSG00000124466	chromatin interactions
ENSG00000176531	chromatin interactions
ENSG00000226763	chromatin interactions
ENSG00000011422	chromatin interactions
ENSG00000105755	chromatin interactions
ENSG00000073050	chromatin interactions
ENSG00000234465	chromatin interactions
ENSG00000176472	chromatin interactions
ENSG00000105767	chromatin interactions
ENSG00000124444	chromatin interactions
ENSG00000167378	chromatin interactions
ENSG00000269583	chromatin interactions

Extended variants
information (count: 1010 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2261316	chr19:44030998-44030999	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553557654	chr19:44031081-44031082	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573584726	chr19:44031104-44031105	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542216907	chr19:44031123-44031124	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115128350	chr19:44031128-44031129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531499705	chr19:44031142-44031143	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544831398	chr19:44031152-44031153	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187613661	chr19:44031155-44031156	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527449742	chr19:44031167-44031168	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547508924	chr19:44031193-44031194	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139147386	chr19:44031223-44031224	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116440799	chr19:44031269-44031270	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62115748	chr19:44031288-44031289	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549901509	chr19:44031319-44031320	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3810381	chr19:44031324-44031325	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs119103249	chr19:44031327-44031328	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539321356	chr19:44031353-44031354	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs3810380	chr19:44031370-44031371	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs144136377	chr19:44031374-44031375	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs368890798	chr19:44031376-44031377	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs553841520	chr19:44031385-44031386	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111775847	chr19:44031390-44031391	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114033490	chr19:44031391-44031392	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs536292071	chr19:44031397-44031398	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555863902	chr19:44031467-44031468	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12609615	chr19:44031471-44031472	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs202201378	chr19:44031541-44031542	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs3840942	chr19:44031553-44031554	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201612057	chr19:44031554-44031555	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574455179	chr19:44031556-44031557	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs148700575	chr19:44031582-44031583	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544918677	chr19:44031601-44031602	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564812629	chr19:44031682-44031683	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571936080	chr19:44031686-44031687	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192506531	chr19:44031791-44031792	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs540831486	chr19:44031838-44031839	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs561476382	chr19:44031859-44031860	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs185710388	chr19:44031886-44031887	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs74898199	chr19:44031903-44031904	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs79229267	chr19:44031905-44031906	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs55785109	chr19:44031906-44031907	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs142262547	chr19:44031917-44031918	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs397821826	chr19:44031918-44031919	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs563686580	chr19:44031951-44031952	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs532519555	chr19:44032011-44032012	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs59857628	chr19:44032036-44032037	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs375505267	chr19:44032037-44032038	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs189294162	chr19:44032045-44032046	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs566334298	chr19:44032077-44032078	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs535274001	chr19:44032137-44032138	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1657 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44028800-44031800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr19:44028800-44031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44029000-44031800	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr19:44029000-44032000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr19:44029200-44031000	Flanking Active TSS	Liver	Liver
6	chr19:44029200-44031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:44029200-44032000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:44029200-44032000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:44029200-44032000	Active TSS	Fetal Intestine Large	intestine
10	chr19:44029400-44031000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:44029400-44031000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:44029400-44031000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:44029400-44031000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr19:44029400-44031200	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr19:44029400-44031200	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr19:44029400-44031400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr19:44029400-44031600	Active TSS	Fetal Intestine Small	intestine
18	chr19:44029400-44031800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr19:44029400-44031800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:44029400-44031800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:44029400-44032000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:44029400-44032200	Active TSS	Esophagus	oesophagus
23	chr19:44029400-44032200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr19:44029400-44032400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:44029600-44031000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:44029600-44031000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr19:44029600-44031000	Flanking Active TSS	Fetal Thymus	thymus
28	chr19:44029600-44031200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr19:44029600-44031200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr19:44029600-44031200	Flanking Active TSS	Placenta	Placenta
31	chr19:44029600-44031400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:44029600-44031600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr19:44029600-44031600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:44029600-44031800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr19:44029600-44031800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr19:44029600-44031800	Active TSS	Fetal Kidney	kidney
37	chr19:44029600-44032200	Flanking Active TSS	Dnd41	blood
38	chr19:44029600-44032200	Active TSS	NHLF	lung
39	chr19:44029800-44031200	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr19:44029800-44031600	Active TSS	Small Intestine	intestine
41	chr19:44029800-44031600	Active TSS	Hela-S3	cervix
42	chr19:44029800-44031800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr19:44029800-44031800	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr19:44029800-44031800	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr19:44029800-44031800	Active TSS	Aorta	Aorta
46	chr19:44029800-44031800	Active TSS	HMEC	breast
47	chr19:44029800-44032000	Active TSS	NHEK	skin
48	chr19:44030000-44031000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:44030000-44031200	Bivalent/Poised TSS	HepG2	liver
50	chr19:44030000-44031600	Active TSS	Gastric	stomach

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