Variant report

Variant	esv3439376
Chromosome Location	chr19:18391377-18393925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1151)
CpG islands
(count:611)
Chromatin interactive
region (count:118)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1151 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:18392060-18392633	K562	blood:	n/a	n/a
2	ARID3A	chr19:18392371-18393431	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:18393121-18393316	K562	blood:	n/a	n/a
4	ARID3A	chr19:18391176-18391455	K562	blood:	n/a	n/a
5	ATF1	chr19:18392118-18392822	K562	blood:	n/a	chr19:18392621-18392635
6	ATF2	chr19:18391203-18391608	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr19:18390173-18391631	GM12878	blood:	n/a	n/a
8	ATF2	chr19:18392092-18392709	GM12878	blood:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
9	ATF2	chr19:18391185-18391577	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr19:18392820-18393104	GM12878	blood:	n/a	n/a
11	ATF2	chr19:18392818-18393296	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr19:18392068-18393380	GM12878	blood:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
13	ATF2	chr19:18391722-18393301	H1-hESC	embryonic stem cell:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
14	ATF2	chr19:18392192-18392765	H1-hESC	embryonic stem cell:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
15	ATF3	chr19:18392034-18392791	K562	blood:	n/a	chr19:18392510-18392521 chr19:18392622-18392633 chr19:18392511-18392524 chr19:18392508-18392522 chr19:18392625-18392633 chr19:18392619-18392633 chr19:18392621-18392632 chr19:18392625-18392632
16	ATF3	chr19:18392169-18392754	A549	lung:	n/a	chr19:18392510-18392521 chr19:18392622-18392633 chr19:18392511-18392524 chr19:18392508-18392522 chr19:18392625-18392633 chr19:18392619-18392633 chr19:18392621-18392632 chr19:18392625-18392632
17	ATF3	chr19:18392321-18392710	K562	blood:	n/a	chr19:18392510-18392521 chr19:18392622-18392633 chr19:18392511-18392524 chr19:18392508-18392522 chr19:18392625-18392633 chr19:18392619-18392633 chr19:18392621-18392632 chr19:18392625-18392632
18	BACH1	chr19:18390820-18391514	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr19:18392508-18393259	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr19:18392527-18392902	K562	blood:	n/a	n/a
21	BATF	chr19:18392281-18392766	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:18392341-18392753	GM12878	blood:	n/a	chr19:18392420-18392433
23	BCL3	chr19:18392618-18393306	A549	lung:	n/a	n/a
24	BCL3	chr19:18392729-18393334	A549	lung:	n/a	n/a
25	BCL3	chr19:18391930-18392785	GM12878	blood:	n/a	chr19:18392420-18392433
26	BCL3	chr19:18392203-18392791	GM12878	blood:	n/a	chr19:18392420-18392433
27	BCL3	chr19:18391111-18391560	A549	lung:	n/a	n/a
28	BCL3	chr19:18392132-18392771	K562	blood:	n/a	chr19:18392420-18392433
29	BCLAF1	chr19:18392801-18393514	GM12878	blood:	n/a	n/a
30	BCLAF1	chr19:18390116-18391731	GM12878	blood:	n/a	n/a
31	BCLAF1	chr19:18391797-18392794	GM12878	blood:	n/a	chr19:18392420-18392433
32	BCLAF1	chr19:18390124-18391491	K562	blood:	n/a	n/a
33	BCLAF1	chr19:18391775-18393189	K562	blood:	n/a	chr19:18392420-18392433
34	BCLAF1	chr19:18391163-18391708	GM12878	blood:	n/a	n/a
35	BCLAF1	chr19:18391811-18392947	K562	blood:	n/a	chr19:18392420-18392433
36	BCLAF1	chr19:18391857-18393449	GM12878	blood:	n/a	chr19:18392420-18392433
37	BHLHE40	chr19:18390147-18391497	GM12878	blood:	n/a	n/a
38	BHLHE40	chr19:18391285-18391421	K562	blood:	n/a	n/a
39	BHLHE40	chr19:18393528-18393923	HepG2	liver:	n/a	n/a
40	BHLHE40	chr19:18393624-18393867	HepG2	liver:	n/a	n/a
41	BHLHE40	chr19:18392046-18393939	GM12878	blood:	n/a	chr19:18392557-18392573
42	BHLHE40	chr19:18391983-18393941	K562	blood:	n/a	chr19:18392557-18392573
43	BHLHE40	chr19:18392178-18393308	HepG2	liver:	n/a	chr19:18392557-18392573
44	BRCA1	chr19:18391184-18391424	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr19:18392149-18392545	HepG2	liver:	n/a	n/a
46	BRCA1	chr19:18391895-18392662	GM12878	blood:	n/a	n/a
47	BRCA1	chr19:18392409-18392701	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr19:18392272-18393203	Hela-S3	cervix:	n/a	n/a
49	CBX3	chr19:18391836-18394026	K562	blood:	n/a	n/a
50	CCNT2	chr19:18393258-18393409	K562	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18392249-18392299	PFSK-1	brain:	n/a
2	chr19:18392249-18392299	PFSK-1	brain:	n/a
3	chr19:18392540-18392590	H1-hESC	embryonic stem cell:	embryo
4	chr19:18392994-18393044	AG10803	skin:	n/a
5	chr19:18392994-18393044	HUVEC	blood vessel:	n/a
6	chr19:18392994-18393044	SAEC	small airway:	n/a
7	chr19:18392249-18392299	ProgFib	skin:	n/a
8	chr19:18391832-18391882	HepG2	liver:	n/a
9	chr19:18392889-18392939	GM12878	blood:	n/a
10	chr19:18392994-18393044	NT2-D1	testis:	n/a
11	chr19:18391832-18391882	PFSK-1	brain:	n/a
12	chr19:18392889-18392939	CMK	blood:	n/a
13	chr19:18391832-18391882	HEEpiC	esophagus:	n/a
14	chr19:18392551-18392601	GM06990	blood:	n/a
15	chr19:18392889-18392939	HRCEpiC	kidney:	n/a
16	chr19:18392889-18392939	NHDF-neo	bronchial:	n/a
17	chr19:18391832-18391882	SKMC	muscle:	n/a
18	chr19:18392551-18392601	HRE	kidney:	n/a
19	chr19:18391883-18391933	ovcar-3	ovarian:	n/a
20	chr19:18391883-18391933	SK-N-SH_RA	brain:	n/a
21	chr19:18392866-18392916	Caco-2	colon:	n/a
22	chr19:18391832-18391882	ECC-1	luminal epithelium:	n/a
23	chr19:18392866-18392916	NHDF-neo	bronchial:	n/a
24	chr19:18392551-18392601	HCM	heart:	n/a
25	chr19:18392866-18392916	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:18392866-18392916	GM12892	blood:	n/a
27	chr19:18392554-18392604	HEEpiC	esophagus:	n/a
28	chr19:18392540-18392590	GM12891	blood:	n/a
29	chr19:18392554-18392604	SAEC	small airway:	n/a
30	chr19:18392551-18392601	ECC-1	luminal epithelium:	n/a
31	chr19:18392994-18393044	IMR90	lung:	fetal
32	chr19:18392249-18392299	AG09319	gingival:	n/a
33	chr19:18392540-18392590	PANC-1	pancreas:	n/a
34	chr19:18391832-18391882	RPTEC	kidney:	n/a
35	chr19:18392866-18392916	HL-60	blood:	n/a
36	chr19:18392866-18392916	GM12891	blood:	n/a
37	chr19:18392554-18392604	HCM	heart:	n/a
38	chr19:18392889-18392939	HUVEC	blood vessel:	n/a
39	chr19:18392889-18392939	SK-N-SH_RA	brain:	n/a
40	chr19:18392540-18392590	NHBE	bronchial:	n/a
41	chr19:18392554-18392604	SK-N-SH	brain:	n/a
42	chr19:18392889-18392939	PFSK-1	brain:	n/a
43	chr19:18392249-18392299	ovcar-3	ovarian:	n/a
44	chr19:18392540-18392590	GM06990	blood:	n/a
45	chr19:18391832-18391882	HCPEpiC	choroid plexus:	n/a
46	chr19:18392889-18392939	RPTEC	kidney:	n/a
47	chr19:18392551-18392601	NH-A	brain:	n/a
48	chr19:18391329-18391379	AG04449	skin:	fetal
49	chr19:18391883-18391933	PANC-1	pancreas:	n/a
50	chr19:18392866-18392916	NH-A	brain:	n/a

(count:118 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:18391645..18392776-chr3:149094513..149095492,3	Hela-S3	cervix:
2	chr10:105420998..105421599-chr19:18391667..18392312,2	Hela-S3	cervix:
3	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
4	chr19:18392098..18392606-chr7:73097616..73098281,2	Hela-S3	cervix:
5	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
6	chr1:204484898..204485850-chr19:18391519..18392739,3	Hela-S3	cervix:
7	chr1:17222277..17223183-chr19:18391952..18392489,2	Hela-S3	cervix:
8	chr19:18262621..18264588-chr19:18388729..18391542,2	MCF-7	breast:
9	chr1:186649541..186650227-chr19:18391946..18392626,2	Hela-S3	cervix:
10	chr16:89118958..89119704-chr19:18392729..18393373,2	HCT-116	colon:
11	chr19:18390598..18392958-chr5:172754478..172756300,2	MCF-7	breast:
12	chr19:18364058..18367893-chr19:18389808..18392798,4	MCF-7	breast:
13	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
14	chr19:18260692..18269532-chr19:18383927..18395911,19	K562	blood:
15	chr19:18392755..18393675-chr19:18433326..18433935,2	Hela-S3	cervix:
16	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
17	chr19:18391696..18392343-chr3:138327465..138328374,2	Hela-S3	cervix:
18	chr11:65190235..65190950-chr19:18391876..18392576,3	Hela-S3	cervix:
19	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
20	chr19:18391886..18392500-chr4:41215744..41216620,2	HCT-116	colon:
21	chr19:18111363..18113248-chr19:18391327..18393546,2	MCF-7	breast:
22	chr19:18331499..18333593-chr19:18390857..18393584,2	MCF-7	breast:
23	chr16:745015..745591-chr19:18391631..18392278,2	Hela-S3	cervix:
24	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
25	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
26	chr19:18391977..18392505-chr19:45927231..45927877,2	Hela-S3	cervix:
27	chr1:243417487..243418296-chr19:18392512..18393284,2	Hela-S3	cervix:
28	chr1:107599220..107600047-chr19:18392199..18392830,2	Hela-S3	cervix:
29	chr19:18302314..18304675-chr19:18392994..18395243,2	MCF-7	breast:
30	chr19:18388917..18393354-chr19:18447866..18453758,9	MCF-7	breast:
31	chr19:18342752..18344966-chr19:18388974..18391959,2	K562	blood:
32	chr19:18392120..18393655-chr19:18544047..18545817,2	K562	blood:
33	chr19:18313659..18316582-chr19:18386529..18393683,9	K562	blood:
34	chr19:18361226..18363795-chr19:18390470..18392704,3	MCF-7	breast:
35	chr19:18391002..18391717-chr19:18433552..18434414,2	MCF-7	breast:
36	chr17:8076598..8077417-chr19:18391782..18392684,3	Hela-S3	cervix:
37	chr19:18276990..18278607-chr19:18389377..18392205,2	K562	blood:
38	chr19:18301148..18305001-chr19:18389528..18394862,10	MCF-7	breast:
39	chr19:18391567..18392492-chr3:156877711..156878415,2	HCT-116	colon:
40	chr19:18388472..18395098-chr19:18481027..18487774,21	K562	blood:
41	chr19:18391524..18392416-chr7:87848560..87849420,2	Hela-S3	cervix:
42	chr19:18391867..18392530-chr9:140171723..140172701,3	Hela-S3	cervix:
43	chr10:75503480..75504256-chr19:18392032..18392597,2	Hela-S3	cervix:
44	chr19:18392874..18395450-chr19:18668198..18669959,2	K562	blood:
45	chr17:79268360..79269165-chr19:18391197..18392005,2	Hela-S3	cervix:
46	chr19:18283376..18285047-chr19:18391434..18393918,2	K562	blood:
47	chr19:18391974..18392588-chr6:31782500..31783099,2	Hela-S3	cervix:
48	chr19:18391400..18392944-chr19:18520489..18523439,2	MCF-7	breast:
49	chr19:18392007..18392671-chr22:50745569..50746492,2	HCT-116	colon:
50	chr19:18392977..18393490-chr21:34863804..34864529,2	HCT-116	colon:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGPEP1-5	chr19:18392659-18393560	NONHSAT062954

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3188	chr19:18392939-18392961	MIMAT0015070

No data

Variant related genes	Relation type
JUND	TF binding region
MIR3188	TF binding region
JUND	CpG island
MIR3188	CpG island
ENSG00000198890	chromatin interactions
ENSG00000268173	chromatin interactions
ENSG00000142168	chromatin interactions
ENSG00000256989	chromatin interactions
ENSG00000176986	chromatin interactions
ENSG00000113739	chromatin interactions
ENSG00000163697	chromatin interactions
ENSG00000141526	chromatin interactions
ENSG00000269145	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000273129	chromatin interactions
ENSG00000130520	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000268650	chromatin interactions
ENSG00000167491	chromatin interactions
ENSG00000177692	chromatin interactions
ENSG00000236021	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000163536	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000139132	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000228113	chromatin interactions
ENSG00000221167	chromatin interactions
ENSG00000037474	chromatin interactions
ENSG00000130363	chromatin interactions
ENSG00000105650	chromatin interactions
ENSG00000095066	chromatin interactions
ENSG00000073756	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000106211	chromatin interactions
ENSG00000012061	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000158470	chromatin interactions
ENSG00000271913	chromatin interactions
ENSG00000105640	chromatin interactions
ENSG00000120334	chromatin interactions
ENSG00000136044	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000143207	chromatin interactions
ENSG00000260285	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000254469	chromatin interactions
ENSG00000071462	chromatin interactions
ENSG00000136937	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000075142	chromatin interactions
ENSG00000239821	chromatin interactions
ENSG00000157637	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000158234	chromatin interactions
ENSG00000216490	chromatin interactions
ENSG00000213523	chromatin interactions
ENSG00000105649	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000196576	chromatin interactions
ENSG00000196950	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000107957	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000175489	chromatin interactions
ENSG00000198113	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000234509	chromatin interactions
ENSG00000117593	chromatin interactions
ENSG00000137522	chromatin interactions
ENSG00000176410	chromatin interactions
ENSG00000243678	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000256982	chromatin interactions
ENSG00000158483	chromatin interactions
ENSG00000136925	chromatin interactions
ENSG00000254858	chromatin interactions
ENSG00000198625	chromatin interactions
ENSG00000127585	chromatin interactions
ENSG00000165476	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000143702	chromatin interactions
RPLP1	Mature miRNA region

Extended variants
information (count: 78 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142576035	chr19:18391390-18391391	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
2	rs147164959	chr19:18391404-18391405	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
3	rs549829523	chr19:18391464-18391465	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
4	rs144161574	chr19:18391470-18391471	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
5	rs373597130	chr19:18391488-18391489	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
6	rs367728832	chr19:18391543-18391544	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
7	rs559096307	chr19:18391597-18391598	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
8	rs12979029	chr19:18391650-18391651	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
9	rs540821014	chr19:18391675-18391676	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
10	rs566188564	chr19:18391701-18391702	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
11	rs529130306	chr19:18391795-18391796	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
12	rs372156156	chr19:18391818-18391819	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
13	rs376840417	chr19:18391851-18391852	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
14	rs200554852	chr19:18391872-18391873	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
15	rs147851587	chr19:18391874-18391875	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
16	rs535313338	chr19:18391878-18391879	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
17	rs140375744	chr19:18391884-18391885	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
18	rs555333015	chr19:18391890-18391891	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
19	rs202049193	chr19:18391893-18391894	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
20	rs149935456	chr19:18391915-18391916	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	53 gene(s)	Overlapped CNVs	n/a
21	rs145024427	chr19:18391934-18391935	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	54 gene(s)	Overlapped CNVs	n/a
22	rs149080014	chr19:18391947-18391948	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
23	rs201614697	chr19:18392050-18392051	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	75 gene(s)	Overlapped CNVs	n/a
24	rs543463067	chr19:18392079-18392080	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
25	rs556732873	chr19:18392083-18392084	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
26	rs576882801	chr19:18392089-18392090	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
27	rs545622667	chr19:18392228-18392229	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	81 gene(s)	Overlapped CNVs	n/a
28	rs41478151	chr19:18392236-18392237	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	82 gene(s)	Overlapped CNVs	n/a
29	rs10401251	chr19:18392280-18392281	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	82 gene(s)	Overlapped CNVs	n/a
30	rs548837634	chr19:18392322-18392323	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	81 gene(s)	Overlapped CNVs	n/a
31	rs559499745	chr19:18392344-18392345	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
32	rs528301704	chr19:18392347-18392348	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
33	rs541705943	chr19:18392353-18392354	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
34	rs561665867	chr19:18392373-18392374	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	80 gene(s)	Overlapped CNVs	n/a
35	rs187603542	chr19:18392387-18392388	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
36	rs530010094	chr19:18392403-18392404	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
37	rs549772012	chr19:18392406-18392407	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
38	rs569991205	chr19:18392409-18392410	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	79 gene(s)	Overlapped CNVs	n/a
39	rs532636110	chr19:18392431-18392432	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	74 gene(s)	Overlapped CNVs	n/a
40	rs41519246	chr19:18392642-18392643	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs41523455	chr19:18392643-18392644	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535244768	chr19:18392657-18392658	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
43	rs555271601	chr19:18392705-18392706	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	48 gene(s)	Overlapped CNVs	n/a
44	rs7247222	chr19:18392873-18392874	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs7247237	chr19:18392894-18392895	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs7247767	chr19:18392913-18392914	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs576813272	chr19:18392916-18392917	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
48	rs41510649	chr19:18392936-18392937	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	Overlapped CNVs	n/a
49	rs552827368	chr19:18392962-18392963	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	31 gene(s)	Overlapped CNVs	n/a
50	rs572667139	chr19:18392991-18392992	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	32 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:397 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18388800-18391600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:18388800-18391600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
3	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr19:18389000-18392000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
8	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
9	chr19:18389600-18392400	Active TSS	HSMMtube	muscle
10	chr19:18389800-18393200	Active TSS	Aorta	Aorta
11	chr19:18389800-18393200	Active TSS	Small Intestine	intestine
12	chr19:18389800-18393600	Active TSS	Ovary	ovary
13	chr19:18389800-18393800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:18390000-18391400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr19:18390000-18392200	Active TSS	Placenta Amnion	Placenta Amnion
16	chr19:18390000-18392400	Active TSS	Gastric	stomach
17	chr19:18390000-18393000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:18390000-18393200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:18390000-18393200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:18390000-18393400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:18390000-18393600	Active TSS	Esophagus	oesophagus
22	chr19:18390000-18393800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr19:18390000-18394000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:18390200-18392000	Active TSS	Right Atrium	heart
25	chr19:18390200-18392200	Active TSS	Fetal Kidney	kidney
26	chr19:18390200-18392200	Active TSS	Fetal Lung	lung
27	chr19:18390200-18392200	Active TSS	Stomach Mucosa	stomach
28	chr19:18390200-18392400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:18390200-18392400	Active TSS	NH-A	brain
30	chr19:18390200-18392400	Active TSS	NHLF	lung
31	chr19:18390200-18393000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:18390200-18393000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:18390200-18393000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:18390200-18393000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:18390200-18393000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr19:18390200-18393000	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr19:18390200-18393000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:18390200-18393000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:18390200-18393000	Active TSS	Brain Substantia Nigra	brain
40	chr19:18390200-18393000	Active TSS	Colonic Mucosa	Colon
41	chr19:18390200-18393000	Active TSS	Thymus	Thymus
42	chr19:18390200-18393000	Active TSS	GM12878-XiMat	blood
43	chr19:18390200-18393000	Active TSS	Hela-S3	cervix
44	chr19:18390200-18393000	Active TSS	HSMM	muscle
45	chr19:18390200-18393000	Active TSS	K562	blood
46	chr19:18390200-18393200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr19:18390200-18393200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:18390200-18393200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:18390200-18393200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:18390200-18393200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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