Variant report

Variant	nsv2430
Chromosome Location	chr19:18496428-18514937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1819)
CpG islands
(count:1220)
Chromatin interactive
region (count:74)
LncRNA
region (count:1)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1819 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:18511320-18511396	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:18499398-18499426	K562	blood:	n/a	n/a
3	ARID3A	chr19:18496226-18497272	K562	blood:	n/a	n/a
4	ARID3A	chr19:18512523-18512763	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:18508020-18508071	K562	blood:	n/a	n/a
6	ARID3A	chr19:18511285-18511305	K562	blood:	n/a	n/a
7	ARID3A	chr19:18499201-18499553	HepG2	liver:	n/a	n/a
8	ARID3A	chr19:18501253-18501519	K562	blood:	n/a	n/a
9	ARID3A	chr19:18499807-18499916	K562	blood:	n/a	n/a
10	ARID3A	chr19:18496684-18497192	HepG2	liver:	n/a	n/a
11	ATF3	chr19:18496912-18497315	A549	lung:	n/a	n/a
12	ATF3	chr19:18499159-18499507	K562	blood:	n/a	n/a
13	ATF3	chr19:18496767-18497258	K562	blood:	n/a	n/a
14	ATF3	chr19:18503321-18503718	K562	blood:	n/a	n/a
15	ATF3	chr19:18503396-18503589	K562	blood:	n/a	n/a
16	BACH1	chr19:18496931-18497283	K562	blood:	n/a	n/a
17	BACH1	chr19:18499187-18499498	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr19:18499605-18500078	K562	blood:	n/a	n/a
19	BATF	chr19:18499282-18499507	GM12878	blood:	n/a	n/a
20	BCL3	chr19:18496748-18497250	A549	lung:	n/a	chr19:18496885-18496898
21	BCL3	chr19:18500571-18501974	A549	lung:	n/a	n/a
22	BCL3	chr19:18500760-18501149	K562	blood:	n/a	n/a
23	BCL3	chr19:18496737-18497282	A549	lung:	n/a	chr19:18496885-18496898
24	BCL3	chr19:18499212-18499756	A549	lung:	n/a	n/a
25	BCLAF1	chr19:18496852-18497379	K562	blood:	n/a	chr19:18496885-18496898
26	BCLAF1	chr19:18496731-18497294	K562	blood:	n/a	chr19:18496885-18496898
27	BCLAF1	chr19:18499112-18499659	GM12878	blood:	n/a	n/a
28	BCLAF1	chr19:18512433-18512898	GM12878	blood:	n/a	n/a
29	BHLHE40	chr19:18503257-18503655	K562	blood:	n/a	n/a
30	BHLHE40	chr19:18508111-18508127	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:18508410-18508587	GM12878	blood:	n/a	n/a
32	BHLHE40	chr19:18499106-18499808	K562	blood:	n/a	n/a
33	BHLHE40	chr19:18499201-18499722	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:18496763-18497315	HepG2	liver:	n/a	n/a
35	BHLHE40	chr19:18499221-18499673	HepG2	liver:	n/a	n/a
36	BHLHE40	chr19:18512565-18512780	K562	blood:	n/a	n/a
37	BHLHE40	chr19:18503203-18503578	GM12878	blood:	n/a	n/a
38	BHLHE40	chr19:18507951-18508235	K562	blood:	n/a	n/a
39	BHLHE40	chr19:18496796-18497903	K562	blood:	n/a	chr19:18497666-18497682
40	BHLHE40	chr19:18507278-18507757	HepG2	liver:	n/a	n/a
41	BRCA1	chr19:18496877-18497500	HepG2	liver:	n/a	n/a
42	BRCA1	chr19:18499245-18499522	HepG2	liver:	n/a	n/a
43	BRCA1	chr19:18499286-18499484	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr19:18496494-18497256	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr19:18499718-18499760	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr19:18499346-18499510	GM12878	blood:	n/a	n/a
47	BRCA1	chr19:18501396-18501569	HepG2	liver:	n/a	n/a
48	CBX3	chr19:18496699-18497915	K562	blood:	n/a	n/a
49	CBX3	chr19:18512348-18512905	K562	blood:	n/a	n/a
50	CBX3	chr19:18498836-18499958	K562	blood:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18497143-18497193	HEEpiC	esophagus:	n/a
2	chr19:18496953-18497003	HepG2	liver:	n/a
3	chr19:18499309-18499359	NHBE	bronchial:	n/a
4	chr19:18502206-18502256	U87	brain:	n/a
5	chr19:18497201-18497251	MCF-7	breast:	n/a
6	chr19:18508620-18508670	NH-A	brain:	n/a
7	chr19:18508493-18508543	LNCaP	prostate:	n/a
8	chr19:18499309-18499359	NHDF-neo	bronchial:	n/a
9	chr19:18502206-18502256	SAEC	small airway:	n/a
10	chr19:18496932-18496982	ECC-1	luminal epithelium:	n/a
11	chr19:18496921-18496971	AG10803	skin:	n/a
12	chr19:18496921-18496971	GM06990	blood:	n/a
13	chr19:18496756-18496806	LNCaP	prostate:	n/a
14	chr19:18509505-18509555	SK-N-MC	brain:	n/a
15	chr19:18499786-18499836	HNPCEpiC	eye:	n/a
16	chr19:18497064-18497114	BE2_C	brain:	n/a
17	chr19:18508620-18508670	Jurkat	blood:	n/a
18	chr19:18496953-18497003	SAEC	small airway:	n/a
19	chr19:18496756-18496806	AG09319	gingival:	n/a
20	chr19:18503517-18503567	HCM	heart:	n/a
21	chr19:18508620-18508670	HRPEpiC	eye:	n/a
22	chr19:18499309-18499359	AG09309	skin:	n/a
23	chr19:18508620-18508670	SAEC	small airway:	n/a
24	chr19:18496984-18497034	H1-hESC	embryonic stem cell:	embryo
25	chr19:18497064-18497114	U87	brain:	n/a
26	chr19:18496921-18496971	HRE	kidney:	n/a
27	chr19:18497201-18497251	AG04450	lung:	fetal
28	chr19:18499128-18499178	AG04449	skin:	fetal
29	chr19:18509358-18509408	HAEpiC	amniotic membrane:	n/a
30	chr19:18496921-18496971	NB4	blood:	n/a
31	chr19:18508115-18508165	GM12892	blood:	n/a
32	chr19:18502206-18502256	HRCEpiC	kidney:	n/a
33	chr19:18497064-18497114	HCF	heart:	n/a
34	chr19:18499309-18499359	HCT-116	colon:	n/a
35	chr19:18499128-18499178	LNCaP	prostate:	n/a
36	chr19:18499098-18499148	A549	lung:	n/a
37	chr19:18499786-18499836	BE2_C	brain:	n/a
38	chr19:18496932-18496982	RPTEC	kidney:	n/a
39	chr19:18496953-18497003	RPTEC	kidney:	n/a
40	chr19:18509358-18509408	Caco-2	colon:	n/a
41	chr19:18502206-18502256	HIPEpiC	eye:	n/a
42	chr19:18499128-18499178	HCPEpiC	choroid plexus:	n/a
43	chr19:18496984-18497034	SK-N-MC	brain:	n/a
44	chr19:18496932-18496982	A549	lung:	n/a
45	chr19:18503517-18503567	MCF10A-Er-Src	breast:	n/a
46	chr19:18496932-18496982	PANC-1	pancreas:	n/a
47	chr19:18497064-18497114	HCM	heart:	n/a
48	chr19:18496932-18496982	SK-N-SH	brain:	n/a
49	chr19:18497143-18497193	Hepatocyte	liver:	n/a
50	chr19:18497064-18497114	NHDF-neo	bronchial:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:18495627..18501937-chr19:18519170..18524838,12	K562	blood:
2	chr19:18503961..18506079-chr19:18528183..18530530,2	K562	blood:
3	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
4	chr19:18390429..18391936-chr19:18514604..18516592,2	K562	blood:
5	chr19:18359047..18361096-chr19:18501038..18503469,2	K562	blood:
6	chr19:18458959..18461482-chr19:18499425..18502890,3	K562	blood:
7	chr19:18277732..18279350-chr19:18496912..18498851,2	K562	blood:
8	chr19:18401875..18403454-chr19:18498375..18500972,2	K562	blood:
9	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
10	chr19:18495115..18497091-chr19:18555323..18558164,2	MCF-7	breast:
11	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
12	chr19:18390843..18392490-chr19:18510995..18513201,2	K562	blood:
13	chr19:18512723..18513473-chr19:18521090..18521675,2	K562	blood:
14	chr19:18391626..18394860-chr19:18506004..18508591,3	K562	blood:
15	chr19:18451491..18453396-chr19:18510638..18513266,2	K562	blood:
16	chr19:18366000..18368081-chr19:18496132..18498337,2	K562	blood:
17	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
18	chr19:18384556..18386370-chr19:18499245..18501146,2	K562	blood:
19	chr19:18498925..18499450-chr19:18521128..18522102,2	K562	blood:
20	chr19:18495971..18498335-chr19:18520063..18523312,3	MCF-7	breast:
21	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
22	chr19:18443925..18446032-chr19:18496432..18498397,2	MCF-7	breast:
23	chr12:66563193..66563791-chr19:18496498..18497271,2	HCT-116	colon:
24	chr19:18466985..18470499-chr19:18496778..18498391,3	K562	blood:
25	chr19:18390571..18392343-chr19:18511701..18513366,2	K562	blood:
26	chr19:18384527..18386649-chr19:18506859..18509715,2	K562	blood:
27	chr19:18431900..18433470-chr19:18509527..18512041,2	MCF-7	breast:
28	chr19:18496590..18497307-chr3:195808657..195809233,2	HCT-116	colon:
29	chr19:18207432..18210021-chr19:18495854..18497699,2	K562	blood:
30	chr19:18466710..18468644-chr19:18498710..18500575,2	K562	blood:
31	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
32	chr19:18497921..18500338-chr19:18535616..18537236,2	K562	blood:
33	chr19:18498833..18499361-chr7:1068004..1068563,2	Hela-S3	cervix:
34	chr19:18506537..18511375-chr19:18511397..18514824,5	K562	blood:
35	chr19:18314629..18316965-chr19:18497132..18498761,2	K562	blood:
36	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
37	chr19:18390804..18392714-chr19:18500853..18503501,2	MCF-7	breast:
38	chr19:18495380..18498103-chr19:18498509..18501527,5	MCF-7	breast:
39	chr19:18495232..18499014-chr19:18539147..18542857,5	K562	blood:
40	chr19:18387480..18389163-chr19:18512842..18514598,2	K562	blood:
41	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
42	chr19:18443821..18446210-chr19:18503515..18506371,2	MCF-7	breast:
43	chr19:18460314..18460997-chr19:18512537..18513064,2	MCF-7	breast:
44	chr19:18450174..18452696-chr19:18496613..18498593,2	MCF-7	breast:
45	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
46	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
47	chr19:18466669..18468716-chr19:18495556..18498014,2	MCF-7	breast:
48	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
49	chr19:18302811..18308329-chr19:18497869..18501422,5	K562	blood:
50	chr19:18390436..18392573-chr19:18514549..18516104,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GDF15-1	chr19:18496727-18496882	NONHSAT062964

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3189-3p	chr19:18497417-18497437	MIMAT0015071
hsa-miR-3189-5p	chr19:18497380-18497404	MIMAT0019217

No data

Variant related genes	Relation type
LRRC25	TF binding region
MIR3189	TF binding region
GDF15	TF binding region
LRRC25	CpG island
MIR3189	CpG island
GDF15	CpG island
ENSG00000072274	chromatin interactions
ENSG00000096996	chromatin interactions
ENSG00000130518	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000175489	chromatin interactions
ENSG00000105649	chromatin interactions
ENSG00000155957	chromatin interactions
ENSG00000213722	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000006015	chromatin interactions
ENSG00000130520	chromatin interactions
ENSG00000221167	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000105650	chromatin interactions
ENSG00000268650	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000239821	chromatin interactions
ENSG00000268199	chromatin interactions
ENSG00000104866	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000254858	chromatin interactions
ENSG00000105647	chromatin interactions

Extended variants
information (count: 701 )
Associated
traits (count: 60 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192506148	chr19:18496432-18496433	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs12459782	chr19:18496495-18496496	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs553948247	chr19:18496532-18496533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs117562959	chr19:18496564-18496565	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs57573498	chr19:18496572-18496573	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542284479	chr19:18496624-18496625	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs545296324	chr19:18496734-18496735	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
8	rs115439266	chr19:18496777-18496778	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
9	rs111589486	chr19:18496797-18496798	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
10	rs371165217	chr19:18496814-18496815	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
11	rs148208958	chr19:18496824-18496825	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
12	rs17526126	chr19:18496849-18496850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
13	rs189597130	chr19:18496854-18496855	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
14	rs549470539	chr19:18496868-18496869	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
15	rs569322447	chr19:18496916-18496917	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs376237203	chr19:18496936-18496937	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs77109188	chr19:18496948-18496949	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs201804244	chr19:18496949-18496950	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs368861357	chr19:18496961-18496962	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs373101579	chr19:18496975-18496976	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs141542836	chr19:18496989-18496990	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
22	rs202099116	chr19:18496995-18496996	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs201445214	chr19:18497005-18497006	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
24	rs573590688	chr19:18497008-18497009	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs373073926	chr19:18497010-18497011	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
26	rs1059519	chr19:18497024-18497025	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376302581	chr19:18497048-18497049	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
28	rs370432678	chr19:18497074-18497075	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs577008845	chr19:18497079-18497080	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs556247365	chr19:18497096-18497097	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs201695537	chr19:18497099-18497100	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs143742934	chr19:18497107-18497108	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs151271136	chr19:18497112-18497113	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs181859786	chr19:18497129-18497130	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
35	rs199595024	chr19:18497131-18497132	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
36	rs6413435	chr19:18497137-18497138	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1059369	chr19:18497141-18497142	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs145420064	chr19:18497152-18497153	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
39	rs16982331	chr19:18497162-18497163	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
40	rs201533332	chr19:18497184-18497185	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
41	rs560248639	chr19:18497202-18497203	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
42	rs370093085	chr19:18497207-18497208	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs372819877	chr19:18497237-18497238	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs529308097	chr19:18497245-18497246	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs114827523	chr19:18497268-18497269	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs200179968	chr19:18497281-18497282	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs77305894	chr19:18497304-18497305	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs199975964	chr19:18497305-18497306	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs562981553	chr19:18497309-18497310	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs531728821	chr19:18497362-18497363	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1172 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18485800-18496600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:18486400-18496600	Weak transcription	Fetal Kidney	kidney
4	chr19:18488600-18496800	Enhancers	Placenta	Placenta
5	chr19:18491400-18497400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:18491600-18497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:18491800-18496600	Weak transcription	Osteobl	bone
8	chr19:18491800-18496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:18491800-18496800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:18491800-18496800	Weak transcription	Colonic Mucosa	Colon
11	chr19:18491800-18496800	Weak transcription	Right Atrium	heart
12	chr19:18491800-18497000	Weak transcription	Lung	lung
13	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
14	chr19:18493800-18497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:18494200-18496600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:18494200-18496600	Weak transcription	HSMM	muscle
17	chr19:18495000-18496800	Enhancers	Fetal Intestine Small	intestine
18	chr19:18495200-18496600	Flanking Active TSS	HepG2	liver
19	chr19:18495200-18496800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:18495200-18497000	Enhancers	Fetal Intestine Large	intestine
21	chr19:18495400-18496600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr19:18495600-18497000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:18495600-18497200	Enhancers	Stomach Mucosa	stomach
24	chr19:18495800-18496800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:18495800-18497000	Enhancers	Liver	Liver
26	chr19:18495800-18497200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:18495800-18497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr19:18496000-18496800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:18496000-18496800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:18496000-18496800	Enhancers	Pancreas	Pancrea
31	chr19:18496000-18496800	Enhancers	HMEC	breast
32	chr19:18496200-18496600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:18496200-18496600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr19:18496200-18496800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:18496200-18496800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:18496200-18496800	Enhancers	Gastric	stomach
37	chr19:18496200-18496800	Enhancers	Small Intestine	intestine
38	chr19:18496200-18496800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr19:18496200-18496800	Flanking Active TSS	A549	lung
40	chr19:18496200-18496800	Flanking Active TSS	Hela-S3	cervix
41	chr19:18496200-18497000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:18496200-18497000	Enhancers	GM12878-XiMat	blood
43	chr19:18496200-18497200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:18496200-18497400	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr19:18496400-18496600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr19:18496400-18496600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:18496400-18496600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr19:18496400-18496600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr19:18496400-18496600	Enhancers	HSMMtube	muscle
50	chr19:18496400-18496600	Flanking Active TSS	NHEK	skin

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