Variant report

Variant	esv1796413
Chromosome Location	chr19:39339989-39341182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1010)
CpG islands
(count:552)
Chromatin interactive
region (count:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39340098-39340107	K562	blood:	n/a	n/a
2	ARID3A	chr19:39340548-39341705	K562	blood:	n/a	n/a
3	ARID3A	chr19:39339620-39341465	HepG2	liver:	n/a	n/a
4	ATF1	chr19:39340538-39341571	K562	blood:	n/a	n/a
5	ATF2	chr19:39339655-39340081	GM12878	blood:	n/a	n/a
6	ATF2	chr19:39339656-39340185	GM12878	blood:	n/a	n/a
7	ATF2	chr19:39339611-39340104	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr19:39340556-39341344	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:39339331-39340306	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:39340440-39341661	GM12878	blood:	n/a	n/a
11	ATF2	chr19:39340719-39341511	GM12878	blood:	n/a	n/a
12	ATF3	chr19:39339319-39341013	A549	lung:	n/a	chr19:39340062-39340082
13	ATF3	chr19:39338999-39341797	A549	lung:	n/a	chr19:39340062-39340082
14	ATF3	chr19:39340826-39341586	K562	blood:	n/a	n/a
15	ATF3	chr19:39339839-39340241	H1-hESC	embryonic stem cell:	n/a	chr19:39340062-39340082
16	ATF3	chr19:39339748-39340324	K562	blood:	n/a	chr19:39340062-39340082
17	ATF3	chr19:39339849-39340298	K562	blood:	n/a	chr19:39340062-39340082
18	BACH1	chr19:39340022-39340170	K562	blood:	n/a	n/a
19	BACH1	chr19:39339664-39340263	H1-hESC	embryonic stem cell:	n/a	n/a
20	BCL3	chr19:39338958-39343958	A549	lung:	n/a	chr19:39343210-39343219 chr19:39341504-39341513 chr19:39340067-39340080 chr19:39342053-39342066 chr19:39340700-39340713 chr19:39343077-39343090 chr19:39343075-39343088 chr19:39343069-39343082 chr19:39340693-39340706 chr19:39340664-39340673 chr19:39342783-39342796 chr19:39339897-39339906
21	BCL3	chr19:39339034-39341912	A549	lung:	n/a	chr19:39341504-39341513 chr19:39340067-39340080 chr19:39340700-39340713 chr19:39340693-39340706 chr19:39340664-39340673 chr19:39339897-39339906
22	BCLAF1	chr19:39339523-39340181	GM12878	blood:	n/a	chr19:39340067-39340080 chr19:39339897-39339906
23	BCLAF1	chr19:39339381-39340364	GM12878	blood:	n/a	chr19:39340067-39340080 chr19:39339897-39339906
24	BCLAF1	chr19:39339726-39340371	K562	blood:	n/a	chr19:39340067-39340080 chr19:39339897-39339906
25	BHLHE40	chr19:39339906-39341147	HepG2	liver:	n/a	chr19:39340136-39340152 chr19:39340699-39340715
26	BHLHE40	chr19:39339627-39340282	A549	lung:	n/a	chr19:39340136-39340152
27	BHLHE40	chr19:39339825-39343403	K562	blood:	n/a	chr19:39340136-39340152 chr19:39340699-39340715
28	BHLHE40	chr19:39339762-39341695	GM12878	blood:	n/a	chr19:39340136-39340152 chr19:39340699-39340715
29	BRCA1	chr19:39340465-39341311	HepG2	liver:	n/a	n/a
30	BRCA1	chr19:39340085-39340224	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr19:39339790-39341174	GM12878	blood:	n/a	n/a
32	BRCA1	chr19:39340601-39341397	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr19:39340088-39340171	HepG2	liver:	n/a	n/a
34	BRCA1	chr19:39340646-39341549	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr19:39339592-39340365	K562	blood:	n/a	n/a
36	CBX3	chr19:39340403-39341711	K562	blood:	n/a	n/a
37	CCNT2	chr19:39341134-39341516	K562	blood:	n/a	n/a
38	CCNT2	chr19:39339527-39340885	K562	blood:	n/a	chr19:39340204-39340213
39	CEBPB	chr19:39340946-39341624	HepG2	liver:	n/a	n/a
40	CEBPB	chr19:39340030-39340368	HepG2	liver:	n/a	n/a
41	CEBPB	chr19:39338963-39340194	GM12878	blood:	n/a	chr19:39339774-39339791
42	CEBPB	chr19:39340909-39341500	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr19:39339777-39340600	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr19:39340675-39341676	K562	blood:	n/a	n/a
45	CEBPB	chr19:39340628-39341604	A549	lung:	n/a	n/a
46	CEBPB	chr19:39339669-39340368	A549	lung:	n/a	chr19:39339774-39339791
47	CEBPB	chr19:39341163-39341699	K562	blood:	n/a	n/a
48	CEBPB	chr19:39339992-39341573	HepG2	liver:	n/a	n/a
49	CEBPB	chr19:39340886-39341592	IMR90	lung:	n/a	n/a
50	CEBPB	chr19:39339966-39340267	HepG2	liver:	n/a	n/a

(count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39340813-39340863	SAEC	small airway:	n/a
2	chr19:39340493-39340543	ProgFib	skin:	n/a
3	chr19:39340813-39340863	GM06990	blood:	n/a
4	chr19:39340813-39340863	SAEC	small airway:	n/a
5	chr19:39340493-39340543	ProgFib	skin:	n/a
6	chr19:39340813-39340863	GM06990	blood:	n/a
7	chr19:39340066-39340116	ProgFib	skin:	n/a
8	chr19:39340631-39340681	HPAEpiC	pulmonary alveolar:	n/a
9	chr19:39340631-39340681	PANC-1	pancreas:	n/a
10	chr19:39340247-39340297	NHBE	bronchial:	n/a
11	chr19:39340247-39340297	HRPEpiC	eye:	n/a
12	chr19:39340066-39340116	GM06990	blood:	n/a
13	chr19:39340654-39340704	HCPEpiC	choroid plexus:	n/a
14	chr19:39340247-39340297	GM12891	blood:	n/a
15	chr19:39340247-39340297	U87	brain:	n/a
16	chr19:39340247-39340297	CMK	blood:	n/a
17	chr19:39340654-39340704	GM19239	blood:	n/a
18	chr19:39340760-39340810	SK-N-SH	brain:	n/a
19	chr19:39340066-39340116	GM12892	blood:	n/a
20	chr19:39340493-39340543	NHDF-neo	bronchial:	n/a
21	chr19:39340066-39340116	AG04450	lung:	fetal
22	chr19:39340247-39340297	HIPEpiC	eye:	n/a
23	chr19:39340631-39340681	U87	brain:	n/a
24	chr19:39340777-39340827	U87	brain:	n/a
25	chr19:39340493-39340543	AG04449	skin:	fetal
26	chr19:39340631-39340681	HCPEpiC	choroid plexus:	n/a
27	chr19:39341095-39341145	AG09319	gingival:	n/a
28	chr19:39340760-39340810	AG09319	gingival:	n/a
29	chr19:39340247-39340297	HCT-116	colon:	n/a
30	chr19:39340493-39340543	Hela-S3	cervix:	n/a
31	chr19:39340247-39340297	NH-A	brain:	n/a
32	chr19:39340493-39340543	HPAEpiC	pulmonary alveolar:	n/a
33	chr19:39340066-39340116	Caco-2	colon:	n/a
34	chr19:39340654-39340704	AG09319	gingival:	n/a
35	chr19:39340760-39340810	AG09309	skin:	n/a
36	chr19:39340777-39340827	HIPEpiC	eye:	n/a
37	chr19:39340777-39340827	HNPCEpiC	eye:	n/a
38	chr19:39340493-39340543	GM12891	blood:	n/a
39	chr19:39340631-39340681	BJ	skin:	n/a
40	chr19:39340777-39340827	GM06990	blood:	n/a
41	chr19:39340777-39340827	BE2_C	brain:	n/a
42	chr19:39340493-39340543	MCF10A-Er-Src	breast:	n/a
43	chr19:39340654-39340704	SK-N-MC	brain:	n/a
44	chr19:39340066-39340116	HCM	heart:	n/a
45	chr19:39340760-39340810	HCPEpiC	choroid plexus:	n/a
46	chr19:39340813-39340863	ProgFib	skin:	n/a
47	chr19:39341095-39341145	SKMC	muscle:	n/a
48	chr19:39340813-39340863	HRCEpiC	kidney:	n/a
49	chr19:39340760-39340810	ovcar-3	ovarian:	n/a
50	chr19:39340066-39340116	PFSK-1	brain:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:20834242..20834775-chr19:39340133..39340641,2	Hela-S3	cervix:
2	chr19:39226722..39228357-chr19:39340194..39343791,3	K562	blood:
3	chr12:49110253..49110799-chr19:39339905..39340621,2	Hela-S3	cervix:
4	chr19:39135827..39140696-chr19:39337712..39343036,10	MCF-7	breast:
5	chr19:39026179..39027940-chr19:39341068..39343027,2	MCF-7	breast:
6	chr19:39224740..39226667-chr19:39338777..39342180,3	K562	blood:
7	chr19:39338478..39344219-chr19:39387112..39393304,19	K562	blood:
8	chr19:39338470..39342492-chr19:39367140..39370147,4	K562	blood:
9	chr19:39339763..39342872-chr19:39383611..39385304,3	K562	blood:
10	chr19:39137328..39141053-chr19:39337803..39340723,6	MCF-7	breast:
11	chr19:39339391..39340580-chr19:39420505..39421476,3	MCF-7	breast:
12	chr19:39338595..39344864-chr19:39418604..39422934,11	K562	blood:
13	chr19:39339873..39342860-chr19:39409643..39412054,2	MCF-7	breast:
14	chr19:39338392..39342144-chr19:39367920..39369868,4	K562	blood:
15	chr19:39338023..39344706-chr19:39388476..39392998,12	MCF-7	breast:
16	chr19:39108057..39110372-chr19:39339414..39342268,3	K562	blood:
17	chr19:39339501..39341434-chr19:39881486..39883567,2	K562	blood:
18	chr19:39340089..39343125-chr19:39404601..39408323,3	K562	blood:
19	chr19:39336974..39342883-chr19:39419267..39423173,13	K562	blood:
20	chr19:1249375..1249892-chr19:39340631..39341416,2	Hela-S3	cervix:
21	chr19:39339752..39342035-chr9:4984469..4986938,2	MCF-7	breast:
22	chr19:39338733..39343337-chr19:39388774..39392675,12	K562	blood:
23	chr19:39137047..39143767-chr19:39341076..39344906,12	MCF-7	breast:
24	chr19:39340101..39342858-chr19:39435561..39437371,2	K562	blood:
25	chr19:39340223..39340777-chr4:106394690..106395372,2	NB4	blood:
26	chr11:67069791..67071479-chr19:39339670..39341309,2	MCF-7	breast:
27	chr19:39200022..39202960-chr19:39340126..39342618,2	K562	blood:
28	chr19:39339689..39340629-chr2:88315565..88316238,2	Hela-S3	cervix:
29	chr19:39304217..39307847-chr19:39338556..39341715,3	MCF-7	breast:
30	chr19:39338960..39343184-chr19:39419440..39422855,6	MCF-7	breast:
31	chr17:4848567..4851401-chr19:39337550..39340336,2	MCF-7	breast:
32	chr19:39108186..39111004-chr19:39340137..39342268,2	K562	blood:
33	chr19:39339409..39344372-chr19:39356868..39363816,11	MCF-7	breast:
34	chr19:39226378..39228332-chr19:39339696..39342519,3	K562	blood:
35	chr19:39340906..39344724-chr19:39389015..39390874,4	MCF-7	breast:
36	chr19:39339114..39344809-chr19:39363672..39368217,5	MCF-7	breast:
37	chr19:39341057..39343314-chr19:39902630..39904241,2	MCF-7	breast:
38	chr19:39339112..39343595-chr19:39368855..39373078,6	MCF-7	breast:
39	chr19:39212206..39230741-chr19:39336504..39344817,33	MCF-7	breast:
40	chr19:39339767..39341589-chr19:39404601..39407841,3	K562	blood:
41	chr19:39337933..39340213-chr19:39370385..39371920,2	K562	blood:
42	chr19:39328103..39328842-chr19:39339617..39340595,2	MCF-7	breast:
43	chr14:53258016..53258566-chr19:39340191..39340724,2	Hela-S3	cervix:
44	chr19:39340139..39342549-chr19:39383529..39386442,2	MCF-7	breast:
45	chr19:39337733..39344793-chr19:39358054..39362711,15	MCF-7	breast:
46	chr19:39340477..39342745-chr7:150775717..150778073,2	MCF-7	breast:
47	chr19:38893264..38895978-chr19:39340017..39342861,2	MCF-7	breast:
48	chr19:39233778..39236095-chr19:39340274..39342606,2	K562	blood:
49	chr19:39338909..39344654-chr19:39419169..39426961,19	MCF-7	breast:
50	chr19:39220252..39229073-chr19:39338371..39342954,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269688	TF binding region
HNRNPL	TF binding region
ENSG00000269688	CpG island
HNRNPL	CpG island
ENSG00000068903	chromatin interactions
ENSG00000104825	chromatin interactions
ENSG00000104823	chromatin interactions
ENSG00000104814	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000100522	chromatin interactions
ENSG00000182472	chromatin interactions
ENSG00000096968	chromatin interactions
ENSG00000269050	chromatin interactions
ENSG00000267892	chromatin interactions
ENSG00000108518	chromatin interactions
ENSG00000090432	chromatin interactions
ENSG00000164896	chromatin interactions
ENSG00000108515	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000269190	chromatin interactions
ENSG00000090924	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000167470	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000130244	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000268055	chromatin interactions
ENSG00000187994	chromatin interactions
ENSG00000138777	chromatin interactions
ENSG00000178982	chromatin interactions
ENSG00000129315	chromatin interactions
ENSG00000130402	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 65 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564435025	chr19:39340005-39340006	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
2	rs377451479	chr19:39340019-39340020	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
3	rs528541127	chr19:39340022-39340023	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs368740082	chr19:39340028-39340029	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
5	rs531694419	chr19:39340029-39340030	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
6	rs373081360	chr19:39340030-39340031	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
7	rs562105817	chr19:39340039-39340040	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
8	rs529290073	chr19:39340045-39340046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
9	rs548532310	chr19:39340104-39340105	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
10	rs569904716	chr19:39340143-39340144	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
11	rs60286661	chr19:39340145-39340146	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376384987	chr19:39340161-39340162	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
13	rs534309239	chr19:39340180-39340181	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
14	rs552892173	chr19:39340192-39340193	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
15	rs552307566	chr19:39340200-39340201	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
16	rs570455529	chr19:39340211-39340212	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
17	rs142416421	chr19:39340254-39340255	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
18	rs552638960	chr19:39340288-39340289	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
19	rs574127246	chr19:39340294-39340295	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
20	rs535059222	chr19:39340334-39340335	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
21	rs557250479	chr19:39340388-39340389	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
22	rs575857492	chr19:39340412-39340413	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
23	rs551420089	chr19:39340418-39340419	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
24	rs564750967	chr19:39340439-39340440	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
25	rs200007214	chr19:39340476-39340477	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
26	rs371221066	chr19:39340525-39340526	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
27	rs540766998	chr19:39340529-39340530	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs562142379	chr19:39340539-39340540	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs79124306	chr19:39340561-39340562	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs538500027	chr19:39340564-39340565	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
31	rs563444102	chr19:39340588-39340589	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
32	rs530785404	chr19:39340594-39340595	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
33	rs552183353	chr19:39340631-39340632	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs570665109	chr19:39340668-39340669	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
35	rs534491936	chr19:39340701-39340702	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
36	rs546314664	chr19:39340704-39340705	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
37	rs567784679	chr19:39340712-39340713	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
38	rs535092756	chr19:39340718-39340719	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs374135240	chr19:39340757-39340758	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
40	rs141478756	chr19:39340892-39340893	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
41	rs556747658	chr19:39340895-39340896	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
42	rs575130064	chr19:39340901-39340902	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
43	rs540167001	chr19:39340967-39340968	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
44	rs80347831	chr19:39340971-39340972	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
45	rs377336511	chr19:39341015-39341016	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
46	rs573412169	chr19:39341016-39341017	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs540802061	chr19:39341137-39341138	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
48	rs571567279	chr19:39341146-39341147	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
49	rs117873552	chr19:39341162-39341163	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
50	rs862458	chr19:39341182-39341183	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

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
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

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39337800-39340000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr19:39338000-39340600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr19:39338200-39340000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
4	chr19:39338200-39340000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:39338200-39340000	Transcr. at gene 5' and 3'	K562	blood
6	chr19:39338400-39340000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr19:39338400-39340000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
8	chr19:39338600-39340000	Flanking Active TSS	HUVEC	blood vessel
9	chr19:39338600-39340600	Active TSS	Gastric	stomach
10	chr19:39338600-39341600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:39338600-39343800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr19:39338800-39341400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:39338800-39341600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:39338800-39343400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:39339000-39340000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr19:39339000-39340000	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr19:39339000-39340000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:39339000-39340000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:39339000-39340000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr19:39339000-39340000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr19:39339000-39340000	Flanking Active TSS	Liver	Liver
22	chr19:39339000-39340000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
23	chr19:39339000-39340000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr19:39339000-39340200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:39339000-39340600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:39339000-39340600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr19:39339000-39341400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:39339000-39341800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:39339000-39344000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr19:39339200-39340000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr19:39339200-39340000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:39339200-39340600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr19:39339200-39340600	Active TSS	Aorta	Aorta
34	chr19:39339200-39341400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:39339200-39343400	Active TSS	Esophagus	oesophagus
36	chr19:39339400-39340000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr19:39339400-39340000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr19:39339400-39340000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:39339400-39340000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:39339400-39340000	Active TSS	Right Atrium	heart
41	chr19:39339400-39340600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr19:39339400-39340600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:39339400-39340600	Active TSS	Ovary	ovary
44	chr19:39339400-39340600	Active TSS	Pancreas	Pancrea
45	chr19:39339400-39340600	Active TSS	Psoas Muscle	Psoas
46	chr19:39339400-39340600	Active TSS	Right Ventricle	heart
47	chr19:39339400-39340600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr19:39339400-39340600	Active TSS	Small Intestine	intestine
49	chr19:39339400-39340800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:39339400-39341400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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