Variant report

Variant	esv1803709
Chromosome Location	chr19:38874828-38900078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1694)
CpG islands
(count:2748)
Chromatin interactive
region (count:61)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1694 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:38883378-38883667	K562	blood:	n/a	n/a
2	ARID3A	chr19:38893330-38893874	K562	blood:	n/a	n/a
3	ARID3A	chr19:38877935-38878141	K562	blood:	n/a	n/a
4	ARID3A	chr19:38893622-38893979	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:38891923-38892096	HepG2	liver:	n/a	n/a
6	ATF1	chr19:38892116-38892203	K562	blood:	n/a	n/a
7	ATF1	chr19:38893357-38893881	K562	blood:	n/a	n/a
8	ATF3	chr19:38893228-38894116	A549	lung:	n/a	chr19:38893945-38893954
9	ATF3	chr19:38893374-38893638	K562	blood:	n/a	n/a
10	ATF3	chr19:38883329-38883730	K562	blood:	n/a	n/a
11	ATF3	chr19:38879648-38879999	H1-hESC	embryonic stem cell:	n/a	chr19:38879857-38879866
12	ATF3	chr19:38893164-38893988	A549	lung:	n/a	chr19:38893945-38893954
13	ATF3	chr19:38893651-38893879	K562	blood:	n/a	n/a
14	ATF3	chr19:38878423-38879180	A549	lung:	n/a	chr19:38878550-38878559
15	ATF3	chr19:38879656-38880068	H1-hESC	embryonic stem cell:	n/a	chr19:38879857-38879866
16	BACH1	chr19:38878147-38878533	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr19:38878793-38879102	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr19:38893655-38893884	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr19:38877842-38879405	A549	lung:	n/a	n/a
20	BCL3	chr19:38874813-38876285	A549	lung:	n/a	n/a
21	BCL3	chr19:38893158-38894160	A549	lung:	n/a	chr19:38893951-38893964 chr19:38893743-38893752
22	BCL3	chr19:38877853-38879450	A549	lung:	n/a	n/a
23	BCL3	chr19:38875067-38876014	A549	lung:	n/a	n/a
24	BCLAF1	chr19:38893605-38894032	GM12878	blood:	n/a	chr19:38893951-38893964 chr19:38893743-38893752
25	BCLAF1	chr19:38893178-38893599	GM12878	blood:	n/a	n/a
26	BHLHE40	chr19:38879664-38880026	K562	blood:	n/a	chr19:38879855-38879868 chr19:38879857-38879866 chr19:38879856-38879865 chr19:38879857-38879866 chr19:38879851-38879872 chr19:38879858-38879867
27	BHLHE40	chr19:38893588-38893890	A549	lung:	n/a	n/a
28	BHLHE40	chr19:38879787-38879985	GM12878	blood:	n/a	chr19:38879857-38879866 chr19:38879858-38879867 chr19:38879851-38879872 chr19:38879855-38879868 chr19:38879857-38879866 chr19:38879856-38879865
29	BHLHE40	chr19:38893483-38894036	HepG2	liver:	n/a	n/a
30	BHLHE40	chr19:38878497-38878579	K562	blood:	n/a	n/a
31	BHLHE40	chr19:38877875-38878197	K562	blood:	n/a	chr19:38878001-38878017
32	BHLHE40	chr19:38893359-38894357	K562	blood:	n/a	n/a
33	BHLHE40	chr19:38893404-38894072	GM12878	blood:	n/a	n/a
34	BHLHE40	chr19:38883443-38883695	K562	blood:	n/a	n/a
35	BHLHE40	chr19:38879720-38880038	HepG2	liver:	n/a	chr19:38879857-38879866 chr19:38879858-38879867 chr19:38879851-38879872 chr19:38879855-38879868 chr19:38879857-38879866 chr19:38879856-38879865
36	BRCA1	chr19:38878710-38878792	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr19:38879011-38879211	H1-hESC	embryonic stem cell:	n/a	n/a
38	CBX3	chr19:38893984-38894385	K562	blood:	n/a	n/a
39	CBX3	chr19:38877931-38878265	K562	blood:	n/a	n/a
40	CBX3	chr19:38883322-38883795	K562	blood:	n/a	n/a
41	CBX3	chr19:38893167-38893943	K562	blood:	n/a	n/a
42	CCNT2	chr19:38878355-38878878	K562	blood:	n/a	chr19:38878550-38878559 chr19:38878805-38878814 chr19:38878706-38878715
43	CCNT2	chr19:38876270-38877985	K562	blood:	n/a	n/a
44	CCNT2	chr19:38893576-38894475	K562	blood:	n/a	chr19:38893945-38893954
45	CEBPB	chr19:38893358-38893875	K562	blood:	n/a	n/a
46	CEBPB	chr19:38893418-38893660	HepG2	liver:	n/a	n/a
47	CEBPB	chr19:38893422-38893853	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPD	chr19:38893627-38893924	HepG2	liver:	n/a	n/a
49	CHD1	chr19:38878509-38878567	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr19:38893793-38894392	GM12878	blood:	n/a	n/a

(count:2748 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38886319-38886369	RPTEC	kidney:	n/a
2	chr19:38893816-38893866	NHDF-neo	bronchial:	n/a
3	chr19:38887799-38887849	GM12891	blood:	n/a
4	chr19:38886319-38886369	RPTEC	kidney:	n/a
5	chr19:38893816-38893866	NHDF-neo	bronchial:	n/a
6	chr19:38887799-38887849	GM12891	blood:	n/a
7	chr19:38876762-38876812	K562	blood:	n/a
8	chr19:38876666-38876716	A549	lung:	n/a
9	chr19:38893547-38893597	NHBE	bronchial:	n/a
10	chr19:38876762-38876812	T-47D	breast:	n/a
11	chr19:38878553-38878603	ECC-1	luminal epithelium:	n/a
12	chr19:38894173-38894223	HNPCEpiC	eye:	n/a
13	chr19:38886110-38886160	BE2_C	brain:	n/a
14	chr19:38893704-38893754	AG04449	skin:	fetal
15	chr19:38876094-38876144	U87	brain:	n/a
16	chr19:38881609-38881659	HRPEpiC	eye:	n/a
17	chr19:38879673-38879723	HMEC	breast:	n/a
18	chr19:38893516-38893566	NB4	blood:	n/a
19	chr19:38893916-38893966	HepG2	liver:	n/a
20	chr19:38878653-38878703	SAEC	small airway:	n/a
21	chr19:38883115-38883165	HCPEpiC	choroid plexus:	n/a
22	chr19:38879544-38879594	Hepatocyte	liver:	n/a
23	chr19:38886658-38886708	AG09309	skin:	n/a
24	chr19:38881032-38881082	SK-N-MC	brain:	n/a
25	chr19:38894074-38894124	PFSK-1	brain:	n/a
26	chr19:38893620-38893670	GM12892	blood:	n/a
27	chr19:38877874-38877924	HMEC	breast:	n/a
28	chr19:38881609-38881659	Jurkat	blood:	n/a
29	chr19:38875043-38875093	NHBE	bronchial:	n/a
30	chr19:38876762-38876812	HCPEpiC	choroid plexus:	n/a
31	chr19:38876160-38876210	AoSMC	blood vessel:	n/a
32	chr19:38894407-38894457	ECC-1	luminal epithelium:	n/a
33	chr19:38893816-38893866	ECC-1	luminal epithelium:	n/a
34	chr19:38875043-38875093	MCF10A-Er-Src	breast:	n/a
35	chr19:38877134-38877184	AG10803	skin:	n/a
36	chr19:38877874-38877924	CMK	blood:	n/a
37	chr19:38881032-38881082	BJ	skin:	n/a
38	chr19:38893547-38893597	SK-N-SH_RA	brain:	n/a
39	chr19:38886667-38886717	ECC-1	luminal epithelium:	n/a
40	chr19:38885481-38885531	HUVEC	blood vessel:	n/a
41	chr19:38877874-38877924	HCF	heart:	n/a
42	chr19:38893155-38893205	Caco-2	colon:	n/a
43	chr19:38876762-38876812	GM12891	blood:	n/a
44	chr19:38885481-38885531	HCM	heart:	n/a
45	chr19:38893155-38893205	IMR90	lung:	fetal
46	chr19:38881609-38881659	SK-N-SH	brain:	n/a
47	chr19:38879699-38879749	MCF-7	breast:	n/a
48	chr19:38887799-38887849	HUVEC	blood vessel:	n/a
49	chr19:38881609-38881659	GM06990	blood:	n/a
50	chr19:38887799-38887849	HCPEpiC	choroid plexus:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:38870927..38872589-chr19:38873604..38875519,2	MCF-7	breast:
2	chr19:38892832..38895683-chr19:38905614..38908476,2	K562	blood:
3	chr19:38864536..38866994-chr19:38891927..38895682,4	MCF-7	breast:
4	chr19:38804471..38807313-chr19:38874109..38876554,2	MCF-7	breast:
5	chr19:38873942..38878444-chr19:38892255..38895006,5	K562	blood:
6	chr19:38878247..38879210-chr19:38893527..38894426,2	K562	blood:
7	chr19:38873942..38878444-chr19:38892255..38895006,5	K562	blood:
8	chr19:38805296..38807779-chr19:38877097..38880049,2	K562	blood:
9	chr19:38724375..38725000-chr19:38875077..38875830,2	MCF-7	breast:
10	chr19:38865210..38867100-chr19:38887808..38889837,2	MCF-7	breast:
11	chr19:38891109..38897587-chr19:38900077..38906045,7	MCF-7	breast:
12	chr19:38870357..38872701-chr19:38899670..38901367,2	K562	blood:
13	chr19:38894351..38897771-chr19:38897837..38899876,3	K562	blood:
14	chr19:38878160..38880019-chr19:38892423..38895031,2	MCF-7	breast:
15	chr19:38878332..38880933-chr19:39901486..39903519,2	K562	blood:
16	chr19:38804503..38806796-chr19:38878549..38880159,2	K562	blood:
17	chr19:38825542..38827860-chr19:38892803..38895034,2	K562	blood:
18	chr19:38864731..38867116-chr19:38892888..38894994,2	MCF-7	breast:
19	chr19:38881161..38882729-chr19:38901627..38904199,2	K562	blood:
20	chr19:38854277..38857061-chr19:38874070..38875932,2	K562	blood:
21	chr19:38738211..38740106-chr19:38872606..38875319,2	K562	blood:
22	chr19:38851827..38854715-chr19:38877414..38880419,4	K562	blood:
23	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
24	chr1:12679613..12680441-chr19:38899277..38899779,2	MCF-7	breast:
25	chr19:38881527..38884112-chr19:38884478..38886116,2	K562	blood:
26	chr19:38825387..38828116-chr19:38877119..38879831,3	MCF-7	breast:
27	chr19:38877412..38880246-chr19:38884643..38887201,2	K562	blood:
28	chr19:38886501..38890187-chr19:38891290..38894154,6	MCF-7	breast:
29	chr19:38892840..38895111-chr19:38906916..38908853,2	MCF-7	breast:
30	chr19:38724122..38725097-chr19:38877454..38878445,2	K562	blood:
31	chr19:38851103..38853998-chr19:38877778..38880419,3	K562	blood:
32	chr19:38810024..38812525-chr19:38892478..38895075,3	MCF-7	breast:
33	chr19:38878822..38880604-chr19:39108487..39110318,2	MCF-7	breast:
34	chr19:38897975..38900777-chr19:38905620..38907470,2	K562	blood:
35	chr19:38879257..38881311-chr19:38881648..38883524,3	MCF-7	breast:
36	chr19:38890926..38893595-chr19:38978170..38979921,2	K562	blood:
37	chr19:38882154..38886821-chr19:38889933..38892699,4	MCF-7	breast:
38	chr19:38851829..38853788-chr19:38876902..38878905,2	MCF-7	breast:
39	chr19:38886501..38890187-chr19:38891290..38894154,6	MCF-7	breast:
40	chr19:38824957..38829265-chr19:38874295..38879043,8	MCF-7	breast:
41	chr19:38717810..38720228-chr19:38876711..38878921,2	K562	blood:
42	chr19:38891977..38893968-chr19:38915428..38917384,2	K562	blood:
43	chr19:36630602..36632414-chr19:38875371..38878496,3	MCF-7	breast:
44	chr19:38864094..38865598-chr19:38884345..38886575,2	K562	blood:
45	chr19:38879257..38881311-chr19:38881648..38883524,3	MCF-7	breast:
46	chr19:38865462..38867810-chr19:38887445..38890114,2	K562	blood:
47	chr19:38864523..38867483-chr19:38883200..38885064,2	MCF-7	breast:
48	chr19:38878247..38879210-chr19:38893527..38894426,2	K562	blood:
49	chr19:38892751..38895518-chr19:38905731..38908056,2	MCF-7	breast:
50	chr19:38898700..38900861-chr19:38901125..38903986,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMD8-2	chr19:38888821-38890521	ENSG00000267473.1
2	lnc-SPRED3-2	chr19:38896159-38896548	NONHSAT066218
3	lnc-SPRED3-2	chr19:38895894-38896061	NONHSAT066218

No data

Variant related genes	Relation type
SPRED3	TF binding region
ENSG00000267473	TF binding region
GGN	TF binding region
FAM98C	TF binding region
ENSG00000267090	TF binding region
SPRED3	CpG island
ENSG00000267473	CpG island
GGN	CpG island
FAM98C	CpG island
ENSG00000267090	CpG island
ENSG00000099337	chromatin interactions
ENSG00000130244	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000179168	chromatin interactions
ENSG00000099338	chromatin interactions
ENSG00000266963	chromatin interactions
ENSG00000126247	chromatin interactions
ENSG00000267473	chromatin interactions
ENSG00000099341	chromatin interactions
ENSG00000171777	chromatin interactions
ENSG00000188766	chromatin interactions
ENSG00000267090	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000196218	chromatin interactions
ENSG00000104814	chromatin interactions
ENSG00000167645	chromatin interactions
ENSG00000178982	chromatin interactions
ENSG00000011332	chromatin interactions
ENSG00000090924	chromatin interactions

Extended variants
information (count: 1069 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1069 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2286551	chr19:38874828-38874829	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531498332	chr19:38874831-38874832	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs80102470	chr19:38874882-38874883	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs147497802	chr19:38874932-38874933	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs115109131	chr19:38874939-38874940	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs190897288	chr19:38874954-38874955	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs565294600	chr19:38874972-38874973	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs543318225	chr19:38874982-38874983	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs369450243	chr19:38874991-38874992	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs199606056	chr19:38874993-38874994	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs112267921	chr19:38874994-38874995	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs576596853	chr19:38875001-38875002	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs374894863	chr19:38875016-38875017	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs201908140	chr19:38875017-38875018	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs369255044	chr19:38875029-38875030	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs200182647	chr19:38875041-38875042	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs200897385	chr19:38875043-38875044	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs372987753	chr19:38875044-38875045	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs139780646	chr19:38875058-38875059	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs62123481	chr19:38875072-38875073	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145717888	chr19:38875078-38875079	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs148924874	chr19:38875107-38875108	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs369901778	chr19:38875108-38875109	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs200653001	chr19:38875109-38875110	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs541323480	chr19:38875142-38875143	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs145910727	chr19:38875159-38875160	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs377542328	chr19:38875172-38875173	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs559788261	chr19:38875240-38875241	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs182734848	chr19:38875248-38875249	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs144086396	chr19:38875270-38875271	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs542358253	chr19:38875334-38875335	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs563755980	chr19:38875359-38875360	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs531433684	chr19:38875419-38875420	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs11083454	chr19:38875482-38875483	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565070101	chr19:38875489-38875490	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs532443892	chr19:38875507-38875508	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs547240899	chr19:38875508-38875509	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs565356246	chr19:38875541-38875542	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs535830954	chr19:38875548-38875549	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs188610914	chr19:38875599-38875600	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs547510735	chr19:38875649-38875650	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs569732547	chr19:38875674-38875675	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs537289942	chr19:38875712-38875713	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs559116589	chr19:38875730-38875731	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs577321071	chr19:38875743-38875744	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs535361608	chr19:38875811-38875812	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs191786084	chr19:38875868-38875869	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs78554911	chr19:38875871-38875872	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs542221680	chr19:38875878-38875879	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs114414569	chr19:38875879-38875880	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	17122850	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
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	20729466	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1904 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38866400-38876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38867000-38875600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:38867000-38877200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38867000-38878000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:38867200-38875200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:38867200-38875400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:38867200-38877000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:38867200-38877200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:38867200-38877400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:38867400-38875000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:38867400-38875800	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr19:38867600-38875200	Strong transcription	Liver	Liver
13	chr19:38867600-38875400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:38867600-38875600	Strong transcription	Fetal Intestine Small	intestine
15	chr19:38867600-38875800	Strong transcription	Primary T cells from cord blood	blood
16	chr19:38867600-38876000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:38867600-38876200	Strong transcription	Brain Cingulate Gyrus	brain
18	chr19:38867600-38877400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:38867800-38875000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:38867800-38875000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:38867800-38875200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:38867800-38875200	Strong transcription	Thymus	Thymus
23	chr19:38867800-38875400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr19:38867800-38875600	Strong transcription	Colon Smooth Muscle	Colon
25	chr19:38867800-38875800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:38867800-38875800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr19:38867800-38876200	Strong transcription	Adipose Nuclei	Adipose
28	chr19:38867800-38876200	Strong transcription	Brain Hippocampus Middle	brain
29	chr19:38867800-38876600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:38867800-38877000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr19:38868000-38875600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:38868000-38875800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:38868000-38876000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:38868000-38876000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:38868000-38876200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:38868000-38877600	Weak transcription	Right Atrium	heart
37	chr19:38868400-38875000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:38868400-38876400	Strong transcription	Colonic Mucosa	Colon
39	chr19:38868800-38875400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:38868800-38876000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr19:38869400-38875000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:38869400-38875200	Strong transcription	Left Ventricle	heart
43	chr19:38869400-38875200	Strong transcription	A549	lung
44	chr19:38869400-38875400	Strong transcription	Osteobl	bone
45	chr19:38869400-38876000	Strong transcription	K562	blood
46	chr19:38869400-38876400	Strong transcription	HMEC	breast
47	chr19:38869600-38875000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr19:38869600-38875000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:38869600-38875200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:38869600-38875200	Strong transcription	Fetal Thymus	thymus

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