Variant report

Variant	esv3432319
Chromosome Location	chr19:41190112-41196510
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	BACH1	chr19:41196429-41197750	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr19:41194463-41195376	GM12878	blood:	n/a	n/a
6	BCL3	chr19:41193138-41194079	GM12878	blood:	n/a	n/a
7	BCL3	chr19:41193330-41194030	GM12878	blood:	n/a	n/a
8	BCL3	chr19:41196259-41196746	GM12878	blood:	n/a	chr19:41196618-41196631 chr19:41196323-41196332 chr19:41196565-41196574
9	BCL3	chr19:41192246-41192782	GM12878	blood:	n/a	chr19:41192743-41192751
10	BCL3	chr19:41194296-41195647	GM12878	blood:	n/a	n/a
11	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
12	BCL3	chr19:41192279-41192784	GM12878	blood:	n/a	chr19:41192743-41192751
13	BCL3	chr19:41196277-41197355	A549	lung:	n/a	chr19:41196935-41196948 chr19:41197090-41197099 chr19:41196936-41196949 chr19:41196618-41196631 chr19:41197093-41197102 chr19:41196323-41196332 chr19:41196565-41196574
14	BHLHE40	chr19:41196334-41197658	K562	blood:	n/a	chr19:41196435-41196451 chr19:41196488-41196504 chr19:41197259-41197275 chr19:41196943-41196959
15	BHLHE40	chr19:41193254-41193697	GM12878	blood:	n/a	n/a
16	BHLHE40	chr19:41195458-41195464	K562	blood:	n/a	n/a
17	BHLHE40	chr19:41196372-41197446	GM12878	blood:	n/a	chr19:41196435-41196451 chr19:41196488-41196504 chr19:41197259-41197275 chr19:41196943-41196959
18	BHLHE40	chr19:41193321-41193981	K562	blood:	n/a	n/a
19	CBX3	chr19:41195112-41195574	K562	blood:	n/a	n/a
20	CBX3	chr19:41193033-41194110	K562	blood:	n/a	n/a
21	CCNT2	chr19:41193412-41193580	K562	blood:	n/a	n/a
22	CCNT2	chr19:41196266-41197416	K562	blood:	n/a	chr19:41197271-41197280 chr19:41196983-41196992 chr19:41196600-41196609 chr19:41197403-41197412 chr19:41196564-41196573 chr19:41196498-41196507
23	CEBPB	chr19:41193418-41193791	K562	blood:	n/a	n/a
24	CHD1	chr19:41192595-41197591	IMR90	lung:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
25	CHD2	chr19:41196409-41197280	Hela-S3	cervix:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
26	CHD2	chr19:41193256-41193983	GM12878	blood:	n/a	n/a
27	CHD2	chr19:41195544-41195625	K562	blood:	n/a	n/a
28	CHD2	chr19:41196455-41197398	GM12878	blood:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
29	CHD2	chr19:41196420-41196982	H1-hESC	embryonic stem cell:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
30	CREB1	chr19:41195289-41196048	A549	lung:	n/a	n/a
31	CREB1	chr19:41196094-41197627	A549	lung:	n/a	n/a
32	CREB1	chr19:41196306-41197065	A549	lung:	n/a	n/a
33	CTCF	chr19:41195321-41195448	GM19239	blood:	n/a	n/a
34	CTCF	chr19:41192039-41192116	LNCaP	prostate:	n/a	n/a
35	CTCF	chr19:41193060-41193210	GM12864	blood:	n/a	n/a
36	CUX1	chr19:41193373-41193556	GM12878	blood:	n/a	n/a
37	E2F4	chr19:41196452-41197415	K562	blood:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196564-41196576
38	E2F6	chr19:41196286-41197636	K562	blood:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196347-41196359 chr19:41196564-41196576
39	E2F6	chr19:41195999-41197721	A549	lung:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196347-41196359 chr19:41196564-41196576
40	E2F6	chr19:41196449-41197769	H1-hESC	embryonic stem cell:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196564-41196576
41	E2F6	chr19:41196144-41197720	K562	blood:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41196463-41196473 chr19:41197091-41197100 chr19:41196347-41196359 chr19:41196564-41196576
42	E2F6	chr19:41196499-41197507	A549	lung:	n/a	chr19:41196618-41196627 chr19:41196564-41196573 chr19:41196942-41196951 chr19:41197091-41197100 chr19:41196564-41196576
43	EBF1	chr19:41195310-41195671	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
44	EBF1	chr19:41196340-41196857	GM12878	blood:	n/a	n/a
45	EBF1	chr19:41196417-41196666	GM12878	blood:	n/a	n/a
46	EBF1	chr19:41196315-41196884	GM12878	blood:	n/a	n/a
47	EBF1	chr19:41195333-41195678	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
48	EBF1	chr19:41195338-41195718	GM12878	blood:	n/a	chr19:41195529-41195538 chr19:41195529-41195538 chr19:41195527-41195540 chr19:41195528-41195539 chr19:41195529-41195539
49	EGR1	chr19:41196380-41197178	MCF-7	breast:	n/a	chr19:41197039-41197052 chr19:41196559-41196572 chr19:41196937-41196950 chr19:41196937-41196950 chr19:41196834-41196858 chr19:41196983-41196998 chr19:41197086-41197099 chr19:41196985-41196999 chr19:41196938-41196952 chr19:41196940-41196950 chr19:41197090-41197100 chr19:41196559-41196572 chr19:41196458-41196472 chr19:41196940-41196949 chr19:41196565-41196578 chr19:41197095-41197108 chr19:41196937-41196950 chr19:41196564-41196574
50	EGR1	chr19:41196473-41197205	ECC-1	luminal epithelium:	n/a	chr19:41197039-41197052 chr19:41196559-41196572 chr19:41196937-41196950 chr19:41196937-41196950 chr19:41196834-41196858 chr19:41196983-41196998 chr19:41197086-41197099 chr19:41196985-41196999 chr19:41196938-41196952 chr19:41196940-41196950 chr19:41197090-41197100 chr19:41196559-41196572 chr19:41196940-41196949 chr19:41196565-41196578 chr19:41197095-41197108 chr19:41196937-41196950 chr19:41196564-41196574

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41190252-41190302	SK-N-MC	brain:	n/a
2	chr19:41193662-41193712	HIPEpiC	eye:	n/a
3	chr19:41190252-41190302	SK-N-MC	brain:	n/a
4	chr19:41193662-41193712	HIPEpiC	eye:	n/a
5	chr19:41195910-41195960	AoSMC	blood vessel:	n/a
6	chr19:41190252-41190302	PANC-1	pancreas:	n/a
7	chr19:41195910-41195960	HL-60	blood:	n/a
8	chr19:41190252-41190302	SKMC	muscle:	n/a
9	chr19:41190250-41190300	HIPEpiC	eye:	n/a
10	chr19:41190252-41190302	HCPEpiC	choroid plexus:	n/a
11	chr19:41190250-41190300	U87	brain:	n/a
12	chr19:41190250-41190300	CMK	blood:	n/a
13	chr19:41195910-41195960	SK-N-SH	brain:	n/a
14	chr19:41195910-41195960	ECC-1	luminal epithelium:	n/a
15	chr19:41190803-41190853	NHDF-neo	bronchial:	n/a
16	chr19:41195910-41195960	HRPEpiC	eye:	n/a
17	chr19:41190396-41190446	AoSMC	blood vessel:	n/a
18	chr19:41195910-41195960	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:41190396-41190446	HRPEpiC	eye:	n/a
20	chr19:41190252-41190302	SAEC	small airway:	n/a
21	chr19:41190252-41190302	LNCaP	prostate:	n/a
22	chr19:41190252-41190302	AG04450	lung:	fetal
23	chr19:41193662-41193712	AG04449	skin:	fetal
24	chr19:41190396-41190446	PFSK-1	brain:	n/a
25	chr19:41190252-41190302	A549	lung:	n/a
26	chr19:41190252-41190302	HL-60	blood:	n/a
27	chr19:41190803-41190853	SK-N-SH_RA	brain:	n/a
28	chr19:41195910-41195960	NH-A	brain:	n/a
29	chr19:41195910-41195960	AG04450	lung:	fetal
30	chr19:41190250-41190300	GM12891	blood:	n/a
31	chr19:41193662-41193712	AoSMC	blood vessel:	n/a
32	chr19:41195910-41195960	PrEC	prostate:	n/a
33	chr19:41193662-41193712	GM12878	blood:	n/a
34	chr19:41190803-41190853	HEEpiC	esophagus:	n/a
35	chr19:41193662-41193712	SK-N-MC	brain:	n/a
36	chr19:41190252-41190302	SK-N-SH_RA	brain:	n/a
37	chr19:41193662-41193712	H1-hESC	embryonic stem cell:	embryo
38	chr19:41193662-41193712	T-47D	breast:	n/a
39	chr19:41190250-41190300	AG09309	skin:	n/a
40	chr19:41193662-41193712	HPAEpiC	pulmonary alveolar:	n/a
41	chr19:41190250-41190300	HNPCEpiC	eye:	n/a
42	chr19:41190803-41190853	HepG2	liver:	n/a
43	chr19:41190252-41190302	AG04449	skin:	fetal
44	chr19:41190250-41190300	BJ	skin:	n/a
45	chr19:41190250-41190300	SKMC	muscle:	n/a
46	chr19:41195910-41195960	BJ	skin:	n/a
47	chr19:41193662-41193712	NH-A	brain:	n/a
48	chr19:41195910-41195960	U87	brain:	n/a
49	chr19:41193662-41193712	GM06990	blood:	n/a
50	chr19:41193662-41193712	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41185972..41188881-chr19:41192870..41195079,2	K562	blood:
2	chr19:41188510..41190194-chr19:41220428..41221993,2	K562	blood:
3	chr19:41194976..41197680-chr19:41213933..41216402,2	MCF-7	breast:
4	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
5	chr19:41193560..41201987-chr19:41206623..41212331,16	K562	blood:
6	chr19:41191561..41193487-chr19:41256304..41257809,2	K562	blood:
7	chr19:41191987..41193561-chr19:41255476..41257809,2	K562	blood:
8	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
9	chr19:41191573..41194549-chr19:41222613..41224121,2	K562	blood:
10	chr19:41185927..41189025-chr19:41189587..41192782,3	K562	blood:
11	chr19:41195613..41198968-chr19:41260956..41263433,3	MCF-7	breast:
12	chr19:41194805..41199772-chr19:41221674..41225965,11	K562	blood:
13	chr19:41195540..41197710-chr19:41283825..41285603,2	MCF-7	breast:
14	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:
15	chr19:41195260..41197933-chr19:41310864..41312582,2	K562	blood:
16	chr19:41191702..41194594-chr19:41196563..41198200,2	MCF-7	breast:
17	chr19:41192210..41194375-chr19:41305816..41308792,2	MCF-7	breast:
18	chr19:41195568..41198287-chr19:41219071..41220657,2	K562	blood:
19	chr19:41193182..41199089-chr19:41206241..41209564,9	MCF-7	breast:
20	chr12:52444850..52445359-chr19:41196019..41196928,2	Hela-S3	cervix:
21	chr19:41193561..41199772-chr19:41221208..41225709,11	K562	blood:
22	chr19:41195052..41198475-chr19:41206836..41210574,5	K562	blood:
23	chr19:41196036..41196567-chr4:56412258..56412956,2	Hela-S3	cervix:
24	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
25	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
26	chr19:41193720..41198590-chr19:41218677..41224410,19	MCF-7	breast:
27	chr16:47007686..47008500-chr19:41196000..41196982,2	Hela-S3	cervix:
28	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:
29	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:

Variant related genes	Relation type
NUMBL	TF binding region
NUMBL	CpG island
ENSG00000223284	chromatin interactions
ENSG00000077312	chromatin interactions
ENSG00000105245	chromatin interactions
ENSG00000268797	chromatin interactions
ENSG00000086544	chromatin interactions
ENSG00000171570	chromatin interactions
ENSG00000269858	chromatin interactions
ENSG00000261173	chromatin interactions
ENSG00000188493	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000134852	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000069345	chromatin interactions
ENSG00000167578	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540323786	chr19:41190130-41190131	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs546913993	chr19:41190164-41190165	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs368211753	chr19:41190192-41190193	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs561697439	chr19:41190200-41190201	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs528870172	chr19:41190237-41190238	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543371959	chr19:41190258-41190259	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs541694727	chr19:41190292-41190293	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs550564281	chr19:41190296-41190297	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142601348	chr19:41190297-41190298	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370991230	chr19:41190299-41190300	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs533212110	chr19:41190300-41190301	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558199959	chr19:41190311-41190312	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376149500	chr19:41190340-41190341	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs566656024	chr19:41190341-41190342	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201860417	chr19:41190355-41190356	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546668083	chr19:41190389-41190390	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141059156	chr19:41190391-41190392	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535473738	chr19:41190402-41190403	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs367547448	chr19:41190423-41190424	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs151184633	chr19:41190427-41190428	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143941883	chr19:41190455-41190456	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs148629984	chr19:41190494-41190495	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558111971	chr19:41190496-41190497	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573373031	chr19:41190507-41190508	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs371879952	chr19:41190521-41190522	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12984927	chr19:41190561-41190562	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555520407	chr19:41190581-41190582	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573741706	chr19:41190593-41190594	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs372312540	chr19:41190600-41190601	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs79080066	chr19:41190617-41190618	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533121322	chr19:41190620-41190621	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545278762	chr19:41190669-41190670	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560116933	chr19:41190678-41190679	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527504916	chr19:41190685-41190686	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73043533	chr19:41190701-41190702	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs116376296	chr19:41190712-41190713	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs3815912	chr19:41190726-41190727	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs113188788	chr19:41190745-41190746	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550746709	chr19:41190816-41190817	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141210964	chr19:41190833-41190834	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs116783158	chr19:41190862-41190863	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs368857859	chr19:41190869-41190870	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs45545932	chr19:41190875-41190876	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs80115827	chr19:41190885-41190886	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534407641	chr19:41190964-41190965	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs555955048	chr19:41190997-41190998	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573781874	chr19:41191020-41191021	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs180991060	chr19:41191071-41191072	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs555926854	chr19:41191107-41191108	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs75944534	chr19:41191114-41191115	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 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:730 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41169800-41195400	Weak transcription	Psoas Muscle	Psoas
2	chr19:41172000-41193000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:41172400-41191000	Strong transcription	Stomach Smooth Muscle	stomach
4	chr19:41172600-41193400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:41172600-41193600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:41172800-41191000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr19:41172800-41192000	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr19:41172800-41192800	Strong transcription	Adipose Nuclei	Adipose
9	chr19:41172800-41193200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:41172800-41193200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:41173000-41192800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:41173000-41192800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:41173000-41192800	Strong transcription	Ovary	ovary
14	chr19:41173000-41193200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:41173000-41193200	Strong transcription	Osteobl	bone
16	chr19:41173200-41192600	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr19:41173200-41192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:41173200-41193200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:41174200-41193200	Strong transcription	Colon Smooth Muscle	Colon
20	chr19:41175800-41192600	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:41175800-41192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:41175800-41194200	Weak transcription	Fetal Heart	heart
23	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr19:41176000-41192800	Weak transcription	GM12878-XiMat	blood
25	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr19:41176200-41193200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:41176200-41193200	Strong transcription	Fetal Intestine Small	intestine
28	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
29	chr19:41176400-41192200	Strong transcription	Fetal Brain Female	brain
30	chr19:41176600-41193200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:41176800-41193000	Strong transcription	Fetal Stomach	stomach
32	chr19:41176800-41193200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:41176800-41193200	Strong transcription	Brain Germinal Matrix	brain
34	chr19:41178800-41193200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:41179200-41194800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr19:41179600-41191200	Weak transcription	Primary B cells from cord blood	blood
38	chr19:41179600-41193000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:41180400-41191200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:41180400-41192600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:41180600-41192600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:41180800-41193200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:41180800-41193600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr19:41181000-41192600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr19:41181800-41192800	Strong transcription	Brain Hippocampus Middle	brain
48	chr19:41182200-41191200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:41182200-41193200	Strong transcription	A549	lung
50	chr19:41182800-41191200	Strong transcription	HSMMtube	muscle

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