Variant report

Variant	nsv820299
Chromosome Location	chr19:41193264-41195994
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	ATF1	chr19:41193386-41193849	K562	blood:	n/a	n/a
2	ATF2	chr19:41193253-41193920	GM12878	blood:	n/a	chr19:41193593-41193604
3	ATF2	chr19:41193129-41193822	GM12878	blood:	n/a	chr19:41193593-41193604
4	BCL3	chr19:41193330-41194030	GM12878	blood:	n/a	n/a
5	BCL3	chr19:41195718-41198312	A549	lung:	n/a	chr19:41196105-41196114 chr19:41196935-41196948 chr19:41197090-41197099 chr19:41196936-41196949 chr19:41196618-41196631 chr19:41197093-41197102 chr19:41196323-41196332 chr19:41196565-41196574
6	BCL3	chr19:41193138-41194079	GM12878	blood:	n/a	n/a
7	BCL3	chr19:41194296-41195647	GM12878	blood:	n/a	n/a
8	BCL3	chr19:41194463-41195376	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:41193321-41193981	K562	blood:	n/a	n/a
10	BHLHE40	chr19:41195458-41195464	K562	blood:	n/a	n/a
11	BHLHE40	chr19:41193254-41193697	GM12878	blood:	n/a	n/a
12	CBX3	chr19:41195112-41195574	K562	blood:	n/a	n/a
13	CBX3	chr19:41193033-41194110	K562	blood:	n/a	n/a
14	CCNT2	chr19:41193412-41193580	K562	blood:	n/a	n/a
15	CEBPB	chr19:41193418-41193791	K562	blood:	n/a	n/a
16	CHD1	chr19:41192595-41197591	IMR90	lung:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
17	CHD2	chr19:41193256-41193983	GM12878	blood:	n/a	n/a
18	CHD2	chr19:41195544-41195625	K562	blood:	n/a	n/a
19	CREB1	chr19:41195289-41196048	A549	lung:	n/a	n/a
20	CTCF	chr19:41195321-41195448	GM19239	blood:	n/a	n/a
21	CUX1	chr19:41193373-41193556	GM12878	blood:	n/a	n/a
22	EBF1	chr19:41195333-41195678	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
23	EBF1	chr19:41195310-41195671	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
24	EBF1	chr19:41195338-41195718	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
25	EGR1	chr19:41194948-41195171	K562	blood:	n/a	n/a
26	EGR1	chr19:41193317-41193608	K562	blood:	n/a	n/a
27	EGR1	chr19:41195374-41195648	K562	blood:	n/a	chr19:41195539-41195552
28	EGR1	chr19:41194945-41195240	K562	blood:	n/a	n/a
29	EGR1	chr19:41193272-41193651	K562	blood:	n/a	n/a
30	ELF1	chr19:41195315-41195654	K562	blood:	n/a	n/a
31	EP300	chr19:41193495-41194070	K562	blood:	n/a	n/a
32	EP300	chr19:41195379-41195533	GM12878	blood:	n/a	n/a
33	EP300	chr19:41193311-41193577	GM12878	blood:	n/a	n/a
34	EP300	chr19:41193284-41193840	GM12878	blood:	n/a	n/a
35	FOS	chr19:41193555-41193607	MCF10A-Er-Src	breast:	n/a	chr19:41193594-41193603
36	FOS	chr19:41193479-41193576	MCF10A-Er-Src	breast:	n/a	n/a
37	GATA3	chr19:41195201-41197645	A549	lung:	n/a	n/a
38	HDAC2	chr19:41193280-41193671	K562	blood:	n/a	n/a
39	HMGN3	chr19:41195410-41195641	K562	blood:	n/a	n/a
40	JUN	chr19:41195293-41198506	K562	blood:	n/a	chr19:41195851-41195862
41	JUND	chr19:41195442-41195503	K562	blood:	n/a	n/a
42	JUND	chr19:41195875-41197752	A549	lung:	n/a	n/a
43	JUND	chr19:41193386-41193864	K562	blood:	n/a	chr19:41193594-41193603
44	MAFK	chr19:41193450-41193893	K562	blood:	n/a	chr19:41193639-41193655
45	MAX	chr19:41193238-41194546	K562	blood:	n/a	chr19:41193826-41193835 chr19:41193824-41193835 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193825-41193834 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193824-41193835 chr19:41194393-41194403
46	MAX	chr19:41195773-41197679	A549	lung:	n/a	chr19:41197262-41197271 chr19:41197258-41197273 chr19:41197265-41197275 chr19:41197260-41197269 chr19:41197261-41197268 chr19:41197251-41197267
47	MAX	chr19:41193408-41193899	GM12878	blood:	n/a	chr19:41193826-41193835 chr19:41193824-41193835 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193825-41193834 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193824-41193835
48	MAX	chr19:41194834-41195723	K562	blood:	n/a	n/a
49	MAX	chr19:41194363-41197840	A549	lung:	n/a	chr19:41197262-41197271 chr19:41197258-41197273 chr19:41197265-41197275 chr19:41197260-41197269 chr19:41197261-41197268 chr19:41197251-41197267 chr19:41194393-41194403
50	MAX	chr19:41193375-41193958	K562	blood:	n/a	chr19:41193826-41193835 chr19:41193824-41193835 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193825-41193834 chr19:41193823-41193836 chr19:41193825-41193834 chr19:41193824-41193835

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41193662-41193712	IMR90	lung:	fetal
2	chr19:41193662-41193712	HEK293	kidney:	embryo
3	chr19:41193662-41193712	Caco-2	colon:	n/a
4	chr19:41195910-41195960	GM19239	blood:	n/a
5	chr19:41195910-41195960	MCF-7	breast:	n/a
6	chr19:41193662-41193712	HCPEpiC	choroid plexus:	n/a
7	chr19:41195910-41195960	MCF10A-Er-Src	breast:	n/a
8	chr19:41193662-41193712	HCT-116	colon:	n/a
9	chr19:41195910-41195960	IMR90	lung:	fetal
10	chr19:41195910-41195960	PFSK-1	brain:	n/a
11	chr19:41195910-41195960	T-47D	breast:	n/a
12	chr19:41193662-41193712	HNPCEpiC	eye:	n/a
13	chr19:41193662-41193712	AG04449	skin:	fetal
14	chr19:41193662-41193712	HepG2	liver:	n/a
15	chr19:41193662-41193712	MCF-7	breast:	n/a
16	chr19:41193662-41193712	HRCEpiC	kidney:	n/a
17	chr19:41193662-41193712	Jurkat	blood:	n/a
18	chr19:41195910-41195960	Hela-S3	cervix:	n/a
19	chr19:41195910-41195960	HNPCEpiC	eye:	n/a
20	chr19:41193662-41193712	SK-N-MC	brain:	n/a
21	chr19:41195910-41195960	GM12891	blood:	n/a
22	chr19:41193662-41193712	HRPEpiC	eye:	n/a
23	chr19:41195910-41195960	LNCaP	prostate:	n/a
24	chr19:41195910-41195960	HCF	heart:	n/a
25	chr19:41193662-41193712	HMEC	breast:	n/a
26	chr19:41193662-41193712	AG09309	skin:	n/a
27	chr19:41193662-41193712	HEEpiC	esophagus:	n/a
28	chr19:41195910-41195960	HRCEpiC	kidney:	n/a
29	chr19:41193662-41193712	RPTEC	kidney:	n/a
30	chr19:41193662-41193712	NB4	blood:	n/a
31	chr19:41195910-41195960	HepG2	liver:	n/a
32	chr19:41193662-41193712	AG10803	skin:	n/a
33	chr19:41195910-41195960	SKMC	muscle:	n/a
34	chr19:41195910-41195960	ovcar-3	ovarian:	n/a
35	chr19:41195910-41195960	HCM	heart:	n/a
36	chr19:41193662-41193712	T-47D	breast:	n/a
37	chr19:41193662-41193712	AoSMC	blood vessel:	n/a
38	chr19:41193662-41193712	GM12878	blood:	n/a
39	chr19:41193662-41193712	ProgFib	skin:	n/a
40	chr19:41195910-41195960	H1-hESC	embryonic stem cell:	embryo
41	chr19:41195910-41195960	HL-60	blood:	n/a
42	chr19:41195910-41195960	BE2_C	brain:	n/a
43	chr19:41193662-41193712	H1-hESC	embryonic stem cell:	embryo
44	chr19:41193662-41193712	U87	brain:	n/a
45	chr19:41193662-41193712	ovcar-3	ovarian:	n/a
46	chr19:41195910-41195960	AG04449	skin:	fetal
47	chr19:41193662-41193712	NHDF-neo	bronchial:	n/a
48	chr19:41195910-41195960	SAEC	small airway:	n/a
49	chr19:41193662-41193712	AG04450	lung:	fetal
50	chr19:41193662-41193712	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41193561..41199772-chr19:41221208..41225709,11	K562	blood:
2	chr19:41195052..41198475-chr19:41206836..41210574,5	K562	blood:
3	chr19:41192210..41194375-chr19:41305816..41308792,2	MCF-7	breast:
4	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
5	chr19:41193720..41198590-chr19:41218677..41224410,19	MCF-7	breast:
6	chr19:41193560..41201987-chr19:41206623..41212331,16	K562	blood:
7	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
8	chr19:41194976..41197680-chr19:41213933..41216402,2	MCF-7	breast:
9	chr19:41191573..41194549-chr19:41222613..41224121,2	K562	blood:
10	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
11	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
12	chr19:41195260..41197933-chr19:41310864..41312582,2	K562	blood:
13	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:
14	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
15	chr19:41193182..41199089-chr19:41206241..41209564,9	MCF-7	breast:
16	chr19:41195540..41197710-chr19:41283825..41285603,2	MCF-7	breast:
17	chr19:41185972..41188881-chr19:41192870..41195079,2	K562	blood:
18	chr19:41195613..41198968-chr19:41260956..41263433,3	MCF-7	breast:
19	chr19:41195568..41198287-chr19:41219071..41220657,2	K562	blood:
20	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:
21	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
22	chr19:41191702..41194594-chr19:41196563..41198200,2	MCF-7	breast:
23	chr19:41194805..41199772-chr19:41221674..41225965,11	K562	blood:

Variant related genes	Relation type
NUMBL	TF binding region
NUMBL	CpG island
ENSG00000123815	chromatin interactions
ENSG00000171570	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000223284	chromatin interactions
ENSG00000105245	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000167578	chromatin interactions
ENSG00000188493	chromatin interactions
ENSG00000086544	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538901724	chr19:41193267-41193268	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs138153726	chr19:41193270-41193271	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs118092381	chr19:41193300-41193301	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs141134524	chr19:41193314-41193315	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs565449288	chr19:41193330-41193331	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs529697744	chr19:41193394-41193395	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs550605237	chr19:41193447-41193448	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs373463451	chr19:41193449-41193450	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs150130691	chr19:41193511-41193512	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs569542342	chr19:41193538-41193539	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs537387889	chr19:41193544-41193545	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs558551553	chr19:41193545-41193546	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs74679290	chr19:41193553-41193554	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs2561537	chr19:41193580-41193581	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs3786533	chr19:41193583-41193584	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs536252262	chr19:41193584-41193585	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs572617523	chr19:41193634-41193635	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs543133136	chr19:41193662-41193663	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs554693409	chr19:41193672-41193673	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs192955166	chr19:41193685-41193686	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs149258355	chr19:41193694-41193695	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs144518855	chr19:41193738-41193739	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs565452457	chr19:41193830-41193831	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs532629510	chr19:41193834-41193835	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs541231718	chr19:41193841-41193842	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs137897508	chr19:41193893-41193894	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs529781700	chr19:41193920-41193921	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs547867095	chr19:41193964-41193965	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs563324844	chr19:41194018-41194019	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs530446459	chr19:41194026-41194027	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs552117009	chr19:41194088-41194089	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs10415334	chr19:41194129-41194130	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs534913107	chr19:41194157-41194158	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs572827198	chr19:41194224-41194225	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs370223440	chr19:41194313-41194314	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs546856213	chr19:41194389-41194390	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs568245137	chr19:41194432-41194433	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs372389961	chr19:41194466-41194467	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs373076788	chr19:41194467-41194468	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs60529488	chr19:41194481-41194482	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554785935	chr19:41194508-41194509	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs540541494	chr19:41194535-41194536	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs3786534	chr19:41194581-41194582	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373727711	chr19:41194603-41194604	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs114565533	chr19:41194639-41194640	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs184100594	chr19:41194641-41194642	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs558867810	chr19:41194704-41194705	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs3865450	chr19:41194710-41194711	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs541318881	chr19:41194749-41194750	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs372580463	chr19:41194814-41194815	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	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
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41169800-41195400	Weak transcription	Psoas Muscle	Psoas
2	chr19:41172600-41193400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:41172600-41193600	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
5	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
8	chr19:41179200-41194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr19:41180800-41193600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:41184200-41193800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:41184600-41194800	Weak transcription	Fetal Thymus	thymus
15	chr19:41186600-41193400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr19:41186600-41194200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr19:41187000-41195600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:41187200-41195200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr19:41187200-41195800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:41187400-41193600	Weak transcription	HUVEC	blood vessel
21	chr19:41187400-41195200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:41187600-41195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:41188800-41195800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:41191800-41194800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr19:41191800-41194800	Weak transcription	HMEC	breast
26	chr19:41191800-41195600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr19:41192000-41193400	Weak transcription	Hela-S3	cervix
28	chr19:41192000-41193600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:41192000-41193800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:41192000-41193800	Weak transcription	Pancreas	Pancrea
31	chr19:41192000-41194400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:41192000-41194800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:41192000-41195000	Weak transcription	Fetal Intestine Large	intestine
34	chr19:41192000-41195200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:41192000-41195200	Weak transcription	Brain Substantia Nigra	brain
36	chr19:41192200-41193400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:41192200-41193800	Weak transcription	Brain Angular Gyrus	brain
38	chr19:41192200-41194600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:41192600-41193400	Genic enhancers	Fetal Muscle Leg	muscle
40	chr19:41192600-41193800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:41192600-41193800	Weak transcription	Fetal Kidney	kidney
42	chr19:41192600-41194600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:41192600-41195200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:41192600-41195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:41192600-41195800	Weak transcription	Liver	Liver
46	chr19:41192600-41196000	Enhancers	Primary B cells from peripheral blood	blood
47	chr19:41192600-41196000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:41192800-41193400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:41192800-41193400	Weak transcription	Ovary	ovary
50	chr19:41192800-41193600	Weak transcription	Brain Cingulate Gyrus	brain

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