Variant report

Variant	esv1794032
Chromosome Location	chr19:39335274-39341182
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1246)
CpG islands
(count:674)
Chromatin interactive
region (count:62)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1246 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39340548-39341705	K562	blood:	n/a	n/a
2	ARID3A	chr19:39339620-39341465	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:39340098-39340107	K562	blood:	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	chr19:39340719-39341511	GM12878	blood:	n/a	n/a
7	ATF2	chr19:39340440-39341661	GM12878	blood:	n/a	n/a
8	ATF2	chr19:39340556-39341344	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr19:39339656-39340185	GM12878	blood:	n/a	n/a
10	ATF2	chr19:39339331-39340306	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr19:39339611-39340104	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr19:39338999-39341797	A549	lung:	n/a	chr19:39340062-39340082
13	ATF3	chr19:39339839-39340241	H1-hESC	embryonic stem cell:	n/a	chr19:39340062-39340082
14	ATF3	chr19:39340826-39341586	K562	blood:	n/a	n/a
15	ATF3	chr19:39339849-39340298	K562	blood:	n/a	chr19:39340062-39340082
16	ATF3	chr19:39339748-39340324	K562	blood:	n/a	chr19:39340062-39340082
17	ATF3	chr19:39339319-39341013	A549	lung:	n/a	chr19:39340062-39340082
18	BACH1	chr19:39339664-39340263	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:39340022-39340170	K562	blood:	n/a	n/a
20	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
21	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
22	BCLAF1	chr19:39338905-39339447	GM12878	blood:	n/a	n/a
23	BCLAF1	chr19:39339726-39340371	K562	blood:	n/a	chr19:39340067-39340080 chr19:39339897-39339906
24	BCLAF1	chr19:39339381-39340364	GM12878	blood:	n/a	chr19:39340067-39340080 chr19:39339897-39339906
25	BCLAF1	chr19:39339523-39340181	GM12878	blood:	n/a	chr19:39340067-39340080 chr19:39339897-39339906
26	BHLHE40	chr19:39339762-39341695	GM12878	blood:	n/a	chr19:39340136-39340152 chr19:39340699-39340715
27	BHLHE40	chr19:39339825-39343403	K562	blood:	n/a	chr19:39340136-39340152 chr19:39340699-39340715
28	BHLHE40	chr19:39339627-39340282	A549	lung:	n/a	chr19:39340136-39340152
29	BHLHE40	chr19:39339906-39341147	HepG2	liver:	n/a	chr19:39340136-39340152 chr19:39340699-39340715
30	BRCA1	chr19:39340465-39341311	HepG2	liver:	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	chr19:39340646-39341549	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr19:39340085-39340224	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr19:39340088-39340171	HepG2	liver:	n/a	n/a
36	CBX3	chr19:39339592-39340365	K562	blood:	n/a	n/a
37	CBX3	chr19:39340403-39341711	K562	blood:	n/a	n/a
38	CCNT2	chr19:39341134-39341516	K562	blood:	n/a	n/a
39	CCNT2	chr19:39339527-39340885	K562	blood:	n/a	chr19:39340204-39340213
40	CEBPB	chr19:39339966-39340267	HepG2	liver:	n/a	n/a
41	CEBPB	chr19:39340909-39341500	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr19:39341163-39341699	K562	blood:	n/a	n/a
43	CEBPB	chr19:39338963-39340194	GM12878	blood:	n/a	chr19:39339774-39339791
44	CEBPB	chr19:39339777-39340600	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr19:39339365-39341828	A549	lung:	n/a	chr19:39339774-39339791
46	CEBPB	chr19:39340066-39340199	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr19:39340493-39340676	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr19:39340946-39341624	HepG2	liver:	n/a	n/a
49	CEBPB	chr19:39340019-39340350	K562	blood:	n/a	n/a
50	CEBPB	chr19:39340030-39340368	HepG2	liver:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39341095-39341145	SK-N-MC	brain:	n/a
2	chr19:39340493-39340543	Hepatocyte	liver:	n/a
3	chr19:39339713-39339763	HNPCEpiC	eye:	n/a
4	chr19:39341095-39341145	SK-N-MC	brain:	n/a
5	chr19:39340493-39340543	Hepatocyte	liver:	n/a
6	chr19:39339713-39339763	HNPCEpiC	eye:	n/a
7	chr19:39340247-39340297	MCF-7	breast:	n/a
8	chr19:39340247-39340297	HEEpiC	esophagus:	n/a
9	chr19:39340631-39340681	BE2_C	brain:	n/a
10	chr19:39340493-39340543	ovcar-3	ovarian:	n/a
11	chr19:39340813-39340863	LNCaP	prostate:	n/a
12	chr19:39340760-39340810	H1-hESC	embryonic stem cell:	embryo
13	chr19:39341095-39341145	MCF-7	breast:	n/a
14	chr19:39340247-39340297	HRPEpiC	eye:	n/a
15	chr19:39340631-39340681	AG09309	skin:	n/a
16	chr19:39340247-39340297	AG04450	lung:	fetal
17	chr19:39340777-39340827	HL-60	blood:	n/a
18	chr19:39340813-39340863	HRCEpiC	kidney:	n/a
19	chr19:39340631-39340681	NH-A	brain:	n/a
20	chr19:39340813-39340863	HNPCEpiC	eye:	n/a
21	chr19:39340760-39340810	AG09319	gingival:	n/a
22	chr19:39341095-39341145	AG09309	skin:	n/a
23	chr19:39340777-39340827	AG04449	skin:	fetal
24	chr19:39340813-39340863	PFSK-1	brain:	n/a
25	chr19:39340760-39340810	NHDF-neo	bronchial:	n/a
26	chr19:39340066-39340116	ProgFib	skin:	n/a
27	chr19:39340813-39340863	HIPEpiC	eye:	n/a
28	chr19:39340813-39340863	HCF	heart:	n/a
29	chr19:39340777-39340827	GM12891	blood:	n/a
30	chr19:39340777-39340827	HCM	heart:	n/a
31	chr19:39340066-39340116	HUVEC	blood vessel:	n/a
32	chr19:39340066-39340116	IMR90	lung:	fetal
33	chr19:39340813-39340863	MCF-7	breast:	n/a
34	chr19:39340631-39340681	MCF10A-Er-Src	breast:	n/a
35	chr19:39340777-39340827	Jurkat	blood:	n/a
36	chr19:39340631-39340681	ovcar-3	ovarian:	n/a
37	chr19:39339713-39339763	T-47D	breast:	n/a
38	chr19:39339713-39339763	K562	blood:	n/a
39	chr19:39340631-39340681	Caco-2	colon:	n/a
40	chr19:39341095-39341145	GM12878	blood:	n/a
41	chr19:39340247-39340297	AG04449	skin:	fetal
42	chr19:39340777-39340827	A549	lung:	n/a
43	chr19:39341095-39341145	HCF	heart:	n/a
44	chr19:39340493-39340543	AoSMC	blood vessel:	n/a
45	chr19:39340777-39340827	MCF-7	breast:	n/a
46	chr19:39340247-39340297	HNPCEpiC	eye:	n/a
47	chr19:39339713-39339763	GM12892	blood:	n/a
48	chr19:39340654-39340704	PANC-1	pancreas:	n/a
49	chr19:39341095-39341145	HAEpiC	amniotic membrane:	n/a
50	chr19:39340631-39340681	HUVEC	blood vessel:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:39338470..39342492-chr19:39367140..39370147,4	K562	blood:
2	chr19:39233896..39236050-chr19:39333989..39336048,2	K562	blood:
3	chr19:39338478..39344219-chr19:39387112..39393304,19	K562	blood:
4	chr19:39337733..39344793-chr19:39358054..39362711,15	MCF-7	breast:
5	chr19:39224740..39226667-chr19:39338777..39342180,3	K562	blood:
6	chr19:39228666..39232672-chr19:39336052..39337743,3	K562	blood:
7	chr19:39339767..39341589-chr19:39404601..39407841,3	K562	blood:
8	chr19:39220252..39229073-chr19:39338371..39342954,10	MCF-7	breast:
9	chr11:67069791..67071479-chr19:39339670..39341309,2	MCF-7	breast:
10	chr19:39341057..39343314-chr19:39902630..39904241,2	MCF-7	breast:
11	chr19:39338733..39343337-chr19:39388774..39392675,12	K562	blood:
12	chr19:39339501..39341434-chr19:39881486..39883567,2	K562	blood:
13	chr19:39340139..39342549-chr19:39383529..39386442,2	MCF-7	breast:
14	chr19:39340101..39342858-chr19:39435561..39437371,2	K562	blood:
15	chr19:38893264..38895978-chr19:39340017..39342861,2	MCF-7	breast:
16	chr19:39338960..39343184-chr19:39419440..39422855,6	MCF-7	breast:
17	chr19:39332878..39335584-chr19:39408217..39410062,2	MCF-7	breast:
18	chr19:39108057..39110372-chr19:39339414..39342268,3	K562	blood:
19	chr19:39226722..39228357-chr19:39340194..39343791,3	K562	blood:
20	chr19:39340223..39340777-chr4:106394690..106395372,2	NB4	blood:
21	chr19:39339689..39340629-chr2:88315565..88316238,2	Hela-S3	cervix:
22	chr19:39200022..39202960-chr19:39340126..39342618,2	K562	blood:
23	chr19:39339112..39343595-chr19:39368855..39373078,6	MCF-7	breast:
24	chr19:39233778..39236095-chr19:39340274..39342606,2	K562	blood:
25	chr19:39217331..39220252-chr19:39336372..39338597,2	K562	blood:
26	chr19:39135827..39140696-chr19:39337712..39343036,10	MCF-7	breast:
27	chr19:39310279..39311821-chr19:39336796..39339611,2	K562	blood:
28	chr19:39137328..39141053-chr19:39337803..39340723,6	MCF-7	breast:
29	chr19:39338909..39344654-chr19:39419169..39426961,19	MCF-7	breast:
30	chr17:4848567..4851401-chr19:39337550..39340336,2	MCF-7	breast:
31	chr19:39108186..39111004-chr19:39340137..39342268,2	K562	blood:
32	chr19:39339873..39342860-chr19:39409643..39412054,2	MCF-7	breast:
33	chr19:39338595..39344864-chr19:39418604..39422934,11	K562	blood:
34	chr19:39218752..39222924-chr19:39336082..39338597,4	K562	blood:
35	chr12:49110253..49110799-chr19:39339905..39340621,2	Hela-S3	cervix:
36	chr19:39306785..39309520-chr19:39336164..39339038,3	K562	blood:
37	chr19:39338023..39344706-chr19:39388476..39392998,12	MCF-7	breast:
38	chr19:39339391..39340580-chr19:39420505..39421476,3	MCF-7	breast:
39	chr19:39026179..39027940-chr19:39341068..39343027,2	MCF-7	breast:
40	chr19:39340477..39342745-chr7:150775717..150778073,2	MCF-7	breast:
41	chr19:39339763..39342872-chr19:39383611..39385304,3	K562	blood:
42	chr19:39340110..39342981-chr19:39406423..39409674,4	MCF-7	breast:
43	chr1:20834242..20834775-chr19:39340133..39340641,2	Hela-S3	cervix:
44	chr19:39340592..39344706-chr19:39357882..39361932,6	K562	blood:
45	chr14:53258016..53258566-chr19:39340191..39340724,2	Hela-S3	cervix:
46	chr19:39340906..39344724-chr19:39389015..39390874,4	MCF-7	breast:
47	chr19:39339409..39344372-chr19:39356868..39363816,11	MCF-7	breast:
48	chr19:39304217..39307847-chr19:39338556..39341715,3	MCF-7	breast:
49	chr19:39335285..39337048-chr21:46290079..46292955,2	MCF-7	breast:
50	chr19:39339752..39342035-chr9:4984469..4986938,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ECH1-5	chr19:39335369-39335574	ENSG00000269688.1
2	lnc-ECH1-5	chr19:39335853-39336139	ENSG00000269688.1

No data

Variant related genes	Relation type
ENSG00000269688	TF binding region
HNRNPL	TF binding region
ENSG00000268083	TF binding region
ENSG00000269688	CpG island
HNRNPL	CpG island
ENSG00000268083	CpG island
ENSG00000269190	chromatin interactions
ENSG00000267892	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000268055	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000108518	chromatin interactions
ENSG00000187994	chromatin interactions
ENSG00000104825	chromatin interactions
ENSG00000108515	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000130402	chromatin interactions
ENSG00000138777	chromatin interactions
ENSG00000130244	chromatin interactions
ENSG00000090432	chromatin interactions
ENSG00000104823	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000269050	chromatin interactions
ENSG00000178982	chromatin interactions
ENSG00000068903	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000104814	chromatin interactions
ENSG00000164896	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000096968	chromatin interactions
ENSG00000167470	chromatin interactions
ENSG00000100522	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000182472	chromatin interactions
ENSG00000129315	chromatin interactions
ENSG00000268756	chromatin interactions
ENSG00000090924	chromatin interactions

Extended variants
information (count: 328 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7255774	chr19:39335274-39335275	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554876251	chr19:39335308-39335309	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs185173502	chr19:39335312-39335313	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs189730515	chr19:39335337-39335338	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs11450081	chr19:39335352-39335353	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs67673372	chr19:39335368-39335369	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs537227941	chr19:39335406-39335407	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs148031984	chr19:39335412-39335413	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
9	rs181245286	chr19:39335430-39335431	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs540723413	chr19:39335437-39335438	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs553044788	chr19:39335444-39335445	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs13346505	chr19:39335455-39335456	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541449383	chr19:39335485-39335486	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
14	rs371389763	chr19:39335534-39335535	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
15	rs375919680	chr19:39335551-39335552	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs185607556	chr19:39335599-39335600	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs545981975	chr19:39335625-39335626	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs554314268	chr19:39335641-39335642	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs374962674	chr19:39335644-39335645	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs528693201	chr19:39335675-39335676	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs188063638	chr19:39335713-39335714	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs386809123	chr19:39335743-39335744	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs55932233	chr19:39335744-39335745	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs372775836	chr19:39335745-39335746	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs543430595	chr19:39335801-39335802	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs529283813	chr19:39335813-39335814	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs147219393	chr19:39335848-39335849	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs79532862	chr19:39335855-39335856	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs148237305	chr19:39335856-39335857	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs369097856	chr19:39335869-39335870	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs569956293	chr19:39335871-39335872	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs78601725	chr19:39335888-39335889	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs558895832	chr19:39335916-39335917	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs570514578	chr19:39335919-39335920	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs534835391	chr19:39335924-39335925	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs181019385	chr19:39335951-39335952	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs574506012	chr19:39335966-39335967	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs541412552	chr19:39335997-39335998	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs187356607	chr19:39336008-39336009	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs138899308	chr19:39336021-39336022	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs563497342	chr19:39336029-39336030	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs147347599	chr19:39336059-39336060	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs191999029	chr19:39336063-39336064	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs540849442	chr19:39336076-39336077	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs562026194	chr19:39336081-39336082	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs183479603	chr19:39336086-39336087	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs79469939	chr19:39336100-39336101	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs115847196	chr19:39336117-39336118	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs569229828	chr19:39336149-39336150	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs114044401	chr19:39336168-39336169	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

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:604 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39324600-39338000	Strong transcription	Fetal Brain Female	brain
2	chr19:39325400-39336800	Strong transcription	Brain Substantia Nigra	brain
3	chr19:39325400-39337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:39325400-39337800	Strong transcription	Brain Cingulate Gyrus	brain
5	chr19:39325400-39338000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr19:39325400-39338200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr19:39325400-39338200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:39325600-39338000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:39326000-39336200	Strong transcription	Brain Hippocampus Middle	brain
10	chr19:39326000-39336600	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:39326000-39337000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr19:39326000-39337800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:39326000-39338000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:39326000-39338000	Strong transcription	Brain Anterior Caudate	brain
15	chr19:39326000-39338000	Strong transcription	HSMM	muscle
16	chr19:39326000-39338200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr19:39326000-39338200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr19:39326000-39338200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:39326000-39338200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr19:39326000-39338200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:39326000-39338400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr19:39326000-39338400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:39326000-39338600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr19:39326200-39337000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr19:39326200-39337600	Strong transcription	Ovary	ovary
26	chr19:39326200-39337800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:39326200-39337800	Strong transcription	Right Ventricle	heart
28	chr19:39326200-39337800	Strong transcription	HUVEC	blood vessel
29	chr19:39326200-39337800	Strong transcription	K562	blood
30	chr19:39326200-39338000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:39326200-39338000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr19:39326200-39338200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr19:39326200-39338400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr19:39326200-39338400	Strong transcription	Fetal Kidney	kidney
35	chr19:39326200-39338800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:39326400-39338200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:39326400-39338400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:39326600-39336800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr19:39326600-39337800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:39326600-39338200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:39326800-39336200	Strong transcription	Colon Smooth Muscle	Colon
42	chr19:39326800-39337800	Strong transcription	NH-A	brain
43	chr19:39326800-39338000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:39326800-39338000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:39327000-39337000	Strong transcription	HSMMtube	muscle
46	chr19:39327000-39337800	Strong transcription	Rectal Smooth Muscle	rectum
47	chr19:39327000-39338400	Strong transcription	NHDF-Ad	bronchial
48	chr19:39327600-39337800	Genic enhancers	HepG2	liver
49	chr19:39327600-39338400	Strong transcription	Osteobl	bone
50	chr19:39327800-39338800	Genic enhancers	Liver	Liver

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