Variant report

Variant	esv18193
Chromosome Location	chr19:39138183-39140365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:622)
CpG islands
(count:488)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39139997-39140421	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:39137841-39138371	HepG2	liver:	n/a	n/a
3	ATF2	chr19:39138927-39139229	GM12878	blood:	n/a	n/a
4	ATF3	chr19:39138876-39140976	A549	lung:	n/a	chr19:39139821-39139830
5	ATF3	chr19:39137720-39138684	A549	lung:	n/a	n/a
6	ATF3	chr19:39137924-39138464	K562	blood:	n/a	n/a
7	ATF3	chr19:39137815-39138663	A549	lung:	n/a	n/a
8	ATF3	chr19:39137835-39138468	K562	blood:	n/a	n/a
9	ATF3	chr19:39140331-39141438	A549	lung:	n/a	n/a
10	ATF3	chr19:39138087-39138316	HepG2	liver:	n/a	n/a
11	BACH1	chr19:39138737-39138903	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr19:39137721-39142438	A549	lung:	n/a	chr19:39142186-39142195 chr19:39139820-39139833 chr19:39139573-39139582 chr19:39138040-39138049 chr19:39139822-39139831 chr19:39141903-39141912
13	BCL3	chr19:39137727-39141534	A549	lung:	n/a	chr19:39139820-39139833 chr19:39139573-39139582 chr19:39138040-39138049 chr19:39139822-39139831
14	BCLAF1	chr19:39138199-39138635	GM12878	blood:	n/a	n/a
15	BHLHE40	chr19:39138307-39138432	K562	blood:	n/a	n/a
16	BHLHE40	chr19:39138136-39138402	GM12878	blood:	n/a	n/a
17	BRCA1	chr19:39137834-39138264	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr19:39140013-39140036	HepG2	liver:	n/a	n/a
19	BRCA1	chr19:39138271-39138466	HepG2	liver:	n/a	n/a
20	BRCA1	chr19:39138573-39138632	GM12878	blood:	n/a	n/a
21	CBX3	chr19:39137721-39138508	K562	blood:	n/a	n/a
22	CCNT2	chr19:39137984-39138656	K562	blood:	n/a	n/a
23	CEBPB	chr19:39138317-39138414	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr19:39140354-39140729	Hela-S3	cervix:	n/a	n/a
25	CEBPD	chr19:39138126-39138596	K562	blood:	n/a	n/a
26	CEBPD	chr19:39138053-39138450	HepG2	liver:	n/a	n/a
27	CEBPD	chr19:39137947-39138577	HepG2	liver:	n/a	n/a
28	CHD1	chr19:39138310-39138548	GM12878	blood:	n/a	n/a
29	CHD1	chr19:39138277-39139726	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr19:39140041-39140307	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr19:39138987-39139185	GM12878	blood:	n/a	n/a
32	CHD2	chr19:39138337-39138479	HepG2	liver:	n/a	n/a
33	CHD2	chr19:39138284-39138539	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr19:39138002-39138418	Hela-S3	cervix:	n/a	chr19:39138108-39138118
35	CREB1	chr19:39137959-39138467	A549	lung:	n/a	n/a
36	CREB1	chr19:39140234-39140934	A549	lung:	n/a	n/a
37	CREB1	chr19:39137918-39138626	A549	lung:	n/a	n/a
38	CTCF	chr19:39138395-39138422	NHEK	skin:	n/a	n/a
39	CTCF	chr19:39139460-39139610	AG09319	gingival:	n/a	n/a
40	CTCF	chr19:39138340-39138490	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr19:39138162-39138246	Lung_OC	lung:	n/a	n/a
42	CTCF	chr19:39138300-39138450	SAEC	small airway:	n/a	n/a
43	CTCF	chr19:39138103-39138313	Spleen_OC	spleen:	n/a	n/a
44	E2F1	chr19:39137983-39138467	Hela-S3	cervix:	n/a	chr19:39138101-39138110 chr19:39138025-39138035 chr19:39138153-39138162 chr19:39138220-39138231
45	E2F4	chr19:39137943-39138498	K562	blood:	n/a	chr19:39138101-39138110 chr19:39138213-39138224 chr19:39138025-39138035 chr19:39138153-39138162
46	E2F4	chr19:39137987-39138533	GM12878	blood:	n/a	chr19:39138101-39138110 chr19:39138213-39138224 chr19:39138025-39138035 chr19:39138153-39138162
47	E2F4	chr19:39137890-39138485	MCF10A-Er-Src	breast:	n/a	chr19:39138101-39138110 chr19:39138213-39138224 chr19:39138025-39138035 chr19:39138153-39138162
48	E2F6	chr19:39137808-39139193	A549	lung:	n/a	chr19:39138101-39138110 chr19:39138025-39138035 chr19:39138153-39138162
49	E2F6	chr19:39138095-39138596	A549	lung:	n/a	chr19:39138101-39138110 chr19:39138153-39138162
50	E2F6	chr19:39138108-39138474	K562	blood:	n/a	chr19:39138153-39138162

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39138400-39138450	AoSMC	blood vessel:	n/a
2	chr19:39138400-39138450	NB4	blood:	n/a
3	chr19:39138400-39138450	ProgFib	skin:	n/a
4	chr19:39138334-39138384	HRE	kidney:	n/a
5	chr19:39138334-39138384	HCF	heart:	n/a
6	chr19:39138400-39138450	HAEpiC	amniotic membrane:	n/a
7	chr19:39138207-39138257	RPTEC	kidney:	n/a
8	chr19:39138322-39138372	AG09319	gingival:	n/a
9	chr19:39138400-39138450	BE2_C	brain:	n/a
10	chr19:39138302-39138352	RPTEC	kidney:	n/a
11	chr19:39138209-39138259	NHDF-neo	bronchial:	n/a
12	chr19:39138322-39138372	GM06990	blood:	n/a
13	chr19:39138551-39138601	NB4	blood:	n/a
14	chr19:39138209-39138259	HIPEpiC	eye:	n/a
15	chr19:39138314-39138364	HRE	kidney:	n/a
16	chr19:39138209-39138259	GM19239	blood:	n/a
17	chr19:39138400-39138450	HEEpiC	esophagus:	n/a
18	chr19:39138314-39138364	AoSMC	blood vessel:	n/a
19	chr19:39138400-39138450	AG09309	skin:	n/a
20	chr19:39138209-39138259	GM12878	blood:	n/a
21	chr19:39138334-39138384	HMEC	breast:	n/a
22	chr19:39138551-39138601	GM06990	blood:	n/a
23	chr19:39138322-39138372	SKMC	muscle:	n/a
24	chr19:39138302-39138352	NH-A	brain:	n/a
25	chr19:39138302-39138352	HCF	heart:	n/a
26	chr19:39138209-39138259	NT2-D1	testis:	n/a
27	chr19:39138314-39138364	HCT-116	colon:	n/a
28	chr19:39138302-39138352	HIPEpiC	eye:	n/a
29	chr19:39138209-39138259	U87	brain:	n/a
30	chr19:39138322-39138372	Caco-2	colon:	n/a
31	chr19:39138551-39138601	HNPCEpiC	eye:	n/a
32	chr19:39138209-39138259	HEEpiC	esophagus:	n/a
33	chr19:39138551-39138601	BE2_C	brain:	n/a
34	chr19:39138400-39138450	AG09319	gingival:	n/a
35	chr19:39138314-39138364	PANC-1	pancreas:	n/a
36	chr19:39138551-39138601	SK-N-SH	brain:	n/a
37	chr19:39138334-39138384	HRPEpiC	eye:	n/a
38	chr19:39138400-39138450	Hela-S3	cervix:	n/a
39	chr19:39138551-39138601	HEEpiC	esophagus:	n/a
40	chr19:39138322-39138372	HepG2	liver:	n/a
41	chr19:39138209-39138259	Hela-S3	cervix:	n/a
42	chr19:39138207-39138257	AG09319	gingival:	n/a
43	chr19:39138400-39138450	PFSK-1	brain:	n/a
44	chr19:39138551-39138601	NH-A	brain:	n/a
45	chr19:39138314-39138364	HL-60	blood:	n/a
46	chr19:39138302-39138352	BE2_C	brain:	n/a
47	chr19:39138302-39138352	MCF-7	breast:	n/a
48	chr19:39138209-39138259	HNPCEpiC	eye:	n/a
49	chr19:39138209-39138259	MCF10A-Er-Src	breast:	n/a
50	chr19:39138551-39138601	HIPEpiC	eye:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112262036..112262941-chr19:39138833..39139418,2	Hela-S3	cervix:
2	chr19:39108167..39112213-chr19:39136508..39140596,7	K562	blood:
3	chr19:39137520..39139996-chr19:39320132..39324117,5	MCF-7	breast:
4	chr19:39136334..39138370-chr19:39226702..39229509,2	MCF-7	breast:
5	chr19:39139019..39141226-chr19:39211896..39214097,2	K562	blood:
6	chr19:39137047..39143767-chr19:39341076..39344906,12	MCF-7	breast:
7	chr19:39135827..39140696-chr19:39337712..39343036,10	MCF-7	breast:
8	chr10:99496914..99497435-chr19:39137923..39138480,2	NB4	blood:
9	chr19:39137231..39139589-chr19:39329369..39331157,2	MCF-7	breast:
10	chr19:39138420..39142103-chr19:39224990..39229224,5	MCF-7	breast:
11	chr19:39109034..39110948-chr19:39138125..39139962,2	MCF-7	breast:
12	chr19:39138000..39140768-chr19:39215687..39223350,9	MCF-7	breast:
13	chr19:39138189..39142372-chr19:39210085..39214804,5	MCF-7	breast:
14	chr19:39127732..39130687-chr19:39136486..39138250,3	MCF-7	breast:
15	chr19:39138501..39140453-chr19:39331794..39333705,2	MCF-7	breast:
16	chr19:39104481..39107303-chr19:39137807..39140302,2	K562	blood:
17	chr19:39135966..39142009-chr19:39184894..39201240,23	MCF-7	breast:
18	chr12:49760885..49761567-chr19:39137909..39138667,2	HCT-116	colon:
19	chr1:151162404..151163113-chr19:39138370..39139198,2	Hela-S3	cervix:
20	chr19:39136970..39140096-chr19:39140173..39145438,10	MCF-7	breast:
21	chr19:39138022..39142840-chr19:39322070..39325450,5	MCF-7	breast:
22	chr19:39137328..39141053-chr19:39337803..39340723,6	MCF-7	breast:
23	chr19:39107241..39111219-chr19:39136508..39140596,7	K562	blood:
24	chr19:39137584..39140325-chr19:39327324..39331607,4	MCF-7	breast:
25	chr19:39035426..39037334-chr19:39139289..39140832,2	K562	blood:
26	chr19:39138282..39139219-chr9:130341241..130341924,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ACTN4	TF binding region
ACTN4	CpG island
ENSG00000136830	chromatin interactions
ENSG00000163159	chromatin interactions
ENSG00000104823	chromatin interactions
ENSG00000155256	chromatin interactions
ENSG00000182472	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000123352	chromatin interactions
ENSG00000130402	chromatin interactions
ENSG00000267892	chromatin interactions
ENSG00000104814	chromatin interactions
ENSG00000178982	chromatin interactions
ENSG00000138166	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556096340	chr19:39138205-39138206	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs574242333	chr19:39138242-39138243	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs538453157	chr19:39138263-39138264	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs556666779	chr19:39138304-39138305	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs578017396	chr19:39138305-39138306	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs545517811	chr19:39138343-39138344	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs560278655	chr19:39138418-39138419	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs372129305	chr19:39138440-39138441	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs541285079	chr19:39138444-39138445	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs572451257	chr19:39138450-39138451	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs540091109	chr19:39138544-39138545	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs181837409	chr19:39138553-39138554	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs375225251	chr19:39138558-39138559	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs529023065	chr19:39138560-39138561	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs199812484	chr19:39138580-39138581	Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs371928028	chr19:39138606-39138607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs2303040	chr19:39138608-39138609	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs532871970	chr19:39138635-39138636	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs369890154	chr19:39138655-39138656	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs372441621	chr19:39138660-39138661	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs566296088	chr19:39138671-39138672	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs73933036	chr19:39138678-39138679	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs187473491	chr19:39138739-39138740	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs147773795	chr19:39138802-39138803	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs567981525	chr19:39138833-39138834	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs148821327	chr19:39138878-39138879	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs143512909	chr19:39138888-39138889	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs73933037	chr19:39138891-39138892	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538755772	chr19:39138945-39138946	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs10424568	chr19:39138948-39138949	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs563782609	chr19:39138949-39138950	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs572309810	chr19:39138999-39139000	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs77134581	chr19:39139017-39139018	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs561623785	chr19:39139025-39139026	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs190514534	chr19:39139088-39139089	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs544137570	chr19:39139108-39139109	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs562536286	chr19:39139111-39139112	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs576326570	chr19:39139164-39139165	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs150953532	chr19:39139166-39139167	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs549832696	chr19:39139309-39139310	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs140759409	chr19:39139330-39139331	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs560206207	chr19:39139377-39139378	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs527248143	chr19:39139406-39139407	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs62121765	chr19:39139417-39139418	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567304286	chr19:39139422-39139423	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs532031778	chr19:39139452-39139453	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs568019426	chr19:39139463-39139464	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs377328693	chr19:39139476-39139477	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs181719839	chr19:39139530-39139531	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs539232070	chr19:39139559-39139560	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Lung cancer	18438408	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	19151661	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39126200-39138200	Weak transcription	Psoas Muscle	Psoas
2	chr19:39126400-39138200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:39126600-39138400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:39127400-39138200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:39127600-39138200	Weak transcription	HSMM	muscle
6	chr19:39127600-39138400	Weak transcription	Aorta	Aorta
7	chr19:39128000-39138200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:39128000-39138200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:39128400-39138400	Weak transcription	Primary T cells from cord blood	blood
10	chr19:39131200-39138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:39131400-39138200	Weak transcription	Right Atrium	heart
12	chr19:39133200-39138200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:39133200-39138200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr19:39133200-39138200	Weak transcription	Esophagus	oesophagus
15	chr19:39133200-39138200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:39133200-39138200	Weak transcription	Small Intestine	intestine
17	chr19:39133400-39138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:39134400-39138200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr19:39135600-39138200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr19:39135600-39138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:39135800-39138200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:39135800-39138200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:39135800-39138200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:39136000-39138200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:39137000-39138200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:39137000-39138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:39137600-39138200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:39137600-39138200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:39137600-39138200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:39137600-39138200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:39137600-39138200	Enhancers	Fetal Intestine Small	intestine
32	chr19:39137600-39138600	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr19:39137600-39139400	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr19:39137600-39139800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr19:39137600-39140400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:39137800-39138200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr19:39137800-39138200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr19:39137800-39138200	Enhancers	Primary hematopoietic stem cells	blood
39	chr19:39137800-39138200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr19:39137800-39138200	Enhancers	Liver	Liver
41	chr19:39137800-39138200	Enhancers	HMEC	breast
42	chr19:39137800-39138400	Active TSS	Primary B cells from cord blood	blood
43	chr19:39137800-39138400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:39137800-39138400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:39137800-39138400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:39137800-39138400	Active TSS	HepG2	liver
47	chr19:39137800-39138600	Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr19:39137800-39138600	Enhancers	Fetal Brain Male	brain
49	chr19:39137800-39138600	Active TSS	Thymus	Thymus
50	chr19:39137800-39138800	Active TSS	Monocytes-CD14+_RO01746	blood

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