Variant report

Variant	esv18473
Chromosome Location	chr19:18390503-18393159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1445)
CpG islands
(count:794)
Chromatin interactive
region (count:130)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

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	chr19:18389818-18390682	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:18392371-18393431	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:18393121-18393316	K562	blood:	n/a	n/a
5	ARID3A	chr19:18391176-18391455	K562	blood:	n/a	n/a
6	ARID3A	chr19:18390153-18390869	K562	blood:	n/a	n/a
7	ATF1	chr19:18392118-18392822	K562	blood:	n/a	chr19:18392621-18392635
8	ATF2	chr19:18392092-18392709	GM12878	blood:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
9	ATF2	chr19:18392820-18393104	GM12878	blood:	n/a	n/a
10	ATF2	chr19:18391722-18393301	H1-hESC	embryonic stem cell:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
11	ATF2	chr19:18390189-18390978	GM12878	blood:	n/a	n/a
12	ATF2	chr19:18392818-18393296	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr19:18390026-18391113	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr19:18391203-18391608	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr19:18391185-18391577	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr19:18392192-18392765	H1-hESC	embryonic stem cell:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
17	ATF2	chr19:18389710-18390929	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr19:18392068-18393380	GM12878	blood:	n/a	chr19:18392621-18392635 chr19:18392512-18392523
19	ATF2	chr19:18390173-18391631	GM12878	blood:	n/a	n/a
20	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
21	ATF3	chr19:18390085-18390652	A549	lung:	n/a	n/a
22	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
23	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
24	ATF3	chr19:18390225-18390732	K562	blood:	n/a	n/a
25	BACH1	chr19:18392508-18393259	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr19:18392527-18392902	K562	blood:	n/a	n/a
27	BACH1	chr19:18389628-18391029	K562	blood:	n/a	n/a
28	BACH1	chr19:18390820-18391514	H1-hESC	embryonic stem cell:	n/a	n/a
29	BATF	chr19:18392281-18392766	GM12878	blood:	n/a	n/a
30	BCL11A	chr19:18392341-18392753	GM12878	blood:	n/a	chr19:18392420-18392433
31	BCL3	chr19:18391930-18392785	GM12878	blood:	n/a	chr19:18392420-18392433
32	BCL3	chr19:18392203-18392791	GM12878	blood:	n/a	chr19:18392420-18392433
33	BCL3	chr19:18392729-18393334	A549	lung:	n/a	n/a
34	BCL3	chr19:18392618-18393306	A549	lung:	n/a	n/a
35	BCL3	chr19:18392132-18392771	K562	blood:	n/a	chr19:18392420-18392433
36	BCL3	chr19:18391111-18391560	A549	lung:	n/a	n/a
37	BCL3	chr19:18390091-18390711	A549	lung:	n/a	n/a
38	BCLAF1	chr19:18391857-18393449	GM12878	blood:	n/a	chr19:18392420-18392433
39	BCLAF1	chr19:18391775-18393189	K562	blood:	n/a	chr19:18392420-18392433
40	BCLAF1	chr19:18390076-18390934	GM12878	blood:	n/a	n/a
41	BCLAF1	chr19:18391811-18392947	K562	blood:	n/a	chr19:18392420-18392433
42	BCLAF1	chr19:18388705-18391028	K562	blood:	n/a	n/a
43	BCLAF1	chr19:18390116-18391731	GM12878	blood:	n/a	n/a
44	BCLAF1	chr19:18390124-18391491	K562	blood:	n/a	n/a
45	BCLAF1	chr19:18392801-18393514	GM12878	blood:	n/a	n/a
46	BCLAF1	chr19:18391163-18391708	GM12878	blood:	n/a	n/a
47	BCLAF1	chr19:18391797-18392794	GM12878	blood:	n/a	chr19:18392420-18392433
48	BHLHE40	chr19:18391285-18391421	K562	blood:	n/a	n/a
49	BHLHE40	chr19:18391983-18393941	K562	blood:	n/a	chr19:18392557-18392573
50	BHLHE40	chr19:18392178-18393308	HepG2	liver:	n/a	chr19:18392557-18392573

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18391301-18391351	AG04449	skin:	fetal
2	chr19:18391301-18391351	AG04449	skin:	fetal
3	chr19:18392994-18393044	Caco-2	colon:	n/a
4	chr19:18392540-18392590	SAEC	small airway:	n/a
5	chr19:18392540-18392590	Caco-2	colon:	n/a
6	chr19:18391301-18391351	GM06990	blood:	n/a
7	chr19:18392866-18392916	RPTEC	kidney:	n/a
8	chr19:18392551-18392601	HUVEC	blood vessel:	n/a
9	chr19:18391329-18391379	HAEpiC	amniotic membrane:	n/a
10	chr19:18390607-18390657	U87	brain:	n/a
11	chr19:18391329-18391379	IMR90	lung:	fetal
12	chr19:18392554-18392604	HMEC	breast:	n/a
13	chr19:18392866-18392916	T-47D	breast:	n/a
14	chr19:18392889-18392939	SK-N-SH	brain:	n/a
15	chr19:18392249-18392299	AoSMC	blood vessel:	n/a
16	chr19:18391883-18391933	HCM	heart:	n/a
17	chr19:18392249-18392299	HNPCEpiC	eye:	n/a
18	chr19:18390607-18390657	NH-A	brain:	n/a
19	chr19:18390607-18390657	RPTEC	kidney:	n/a
20	chr19:18391832-18391882	GM19239	blood:	n/a
21	chr19:18392249-18392299	PrEC	prostate:	n/a
22	chr19:18391883-18391933	HEK293	kidney:	embryo
23	chr19:18392540-18392590	CMK	blood:	n/a
24	chr19:18390607-18390657	CMK	blood:	n/a
25	chr19:18391832-18391882	HRPEpiC	eye:	n/a
26	chr19:18391832-18391882	AG10803	skin:	n/a
27	chr19:18390991-18391041	HEEpiC	esophagus:	n/a
28	chr19:18392994-18393044	HCF	heart:	n/a
29	chr19:18392540-18392590	NHBE	bronchial:	n/a
30	chr19:18391832-18391882	A549	lung:	n/a
31	chr19:18391329-18391379	HMEC	breast:	n/a
32	chr19:18391832-18391882	MCF-7	breast:	n/a
33	chr19:18391329-18391379	GM19239	blood:	n/a
34	chr19:18391883-18391933	NT2-D1	testis:	n/a
35	chr19:18392994-18393044	K562	blood:	n/a
36	chr19:18392540-18392590	NT2-D1	testis:	n/a
37	chr19:18391301-18391351	HRE	kidney:	n/a
38	chr19:18392994-18393044	SKMC	muscle:	n/a
39	chr19:18391883-18391933	ECC-1	luminal epithelium:	n/a
40	chr19:18392249-18392299	BJ	skin:	n/a
41	chr19:18391301-18391351	Hepatocyte	liver:	n/a
42	chr19:18392866-18392916	MCF10A-Er-Src	breast:	n/a
43	chr19:18391832-18391882	SK-N-MC	brain:	n/a
44	chr19:18392551-18392601	NT2-D1	testis:	n/a
45	chr19:18392540-18392590	AG04450	lung:	fetal
46	chr19:18391301-18391351	SKMC	muscle:	n/a
47	chr19:18392554-18392604	LNCaP	prostate:	n/a
48	chr19:18392540-18392590	SK-N-SH	brain:	n/a
49	chr19:18390991-18391041	HCPEpiC	choroid plexus:	n/a
50	chr19:18390991-18391041	PANC-1	pancreas:	n/a

(count:130 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr19:18392013..18392940-chr21:33031666..33032209,2	HCT-116	colon:
2	chr19:18391524..18392416-chr7:87848560..87849420,2	Hela-S3	cervix:
3	chr19:18364058..18367893-chr19:18389808..18392798,4	MCF-7	breast:
4	chr1:155197037..155198006-chr19:18392015..18392606,2	Hela-S3	cervix:
5	chr19:18302575..18305285-chr19:18390568..18392250,2	MCF-7	breast:
6	chr16:89988316..89991221-chr19:18390772..18393694,2	MCF-7	breast:
7	chr19:18390778..18393256-chr19:55897402..55899140,2	MCF-7	breast:
8	chr19:18391769..18392269-chr7:75931715..75932351,2	Hela-S3	cervix:
9	chr19:18391743..18392810-chr6:30710116..30710770,3	Hela-S3	cervix:
10	chr19:12903017..12903886-chr19:18391760..18392334,2	Hela-S3	cervix:
11	chr19:18391886..18392500-chr4:41215744..41216620,2	HCT-116	colon:
12	chr17:8076598..8077417-chr19:18391782..18392684,3	Hela-S3	cervix:
13	chr19:18389877..18390868-chr19:18433805..18434780,6	K562	blood:
14	chr19:18389237..18391890-chr19:18553028..18555362,2	K562	blood:
15	chr19:18391567..18392492-chr3:156877711..156878415,2	HCT-116	colon:
16	chr19:18313702..18316146-chr19:18389721..18392001,2	MCF-7	breast:
17	chr19:18207827..18209431-chr19:18390333..18393371,3	K562	blood:
18	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
19	chr1:176176297..176177165-chr19:18391561..18392505,2	Hela-S3	cervix:
20	chr19:18391626..18394860-chr19:18506004..18508591,3	K562	blood:
21	chr19:18303093..18307365-chr19:18386584..18393500,10	K562	blood:
22	chr19:18389965..18390859-chr19:18432817..18433745,4	MCF-7	breast:
23	chr1:243417487..243418296-chr19:18392512..18393284,2	Hela-S3	cervix:
24	chr19:18392266..18394628-chr19:18631659..18634590,3	K562	blood:
25	chr19:18262621..18264588-chr19:18388729..18391542,2	MCF-7	breast:
26	chr19:18390152..18390835-chr19:18402706..18403213,2	Hela-S3	cervix:
27	chr19:18311216..18316508-chr19:18389022..18394678,9	MCF-7	breast:
28	chr1:17222277..17223183-chr19:18391952..18392489,2	Hela-S3	cervix:
29	chr11:71638806..71639785-chr19:18391994..18392775,2	HCT-116	colon:
30	chr19:18388723..18391469-chr19:18447700..18450655,3	MCF-7	breast:
31	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
32	chr19:18391713..18392557-chr19:18433761..18434274,2	MCF-7	breast:
33	chr19:18311642..18316628-chr19:18388957..18392513,10	K562	blood:
34	chr19:18391917..18392846-chr20:48330164..48330962,2	Hela-S3	cervix:
35	chr16:745015..745591-chr19:18391631..18392278,2	Hela-S3	cervix:
36	chr11:71498340..71499087-chr19:18391666..18392636,2	Hela-S3	cervix:
37	chr19:18390598..18392958-chr5:172754478..172756300,2	MCF-7	breast:
38	chr11:62608551..62609631-chr19:18392125..18393216,3	NB4	blood:
39	chr19:18390819..18392505-chr19:19495105..19497896,2	K562	blood:
40	chr19:18391867..18392530-chr9:140171723..140172701,3	Hela-S3	cervix:
41	chr19:18361226..18363795-chr19:18390470..18392704,3	MCF-7	breast:
42	chr19:18116541..18118354-chr19:18390841..18393418,2	MCF-7	breast:
43	chr16:89118958..89119704-chr19:18392729..18393373,2	HCT-116	colon:
44	chr19:18391696..18392343-chr3:138327465..138328374,2	Hela-S3	cervix:
45	chr1:186649541..186650227-chr19:18391946..18392626,2	Hela-S3	cervix:
46	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
47	chr19:18102794..18104652-chr19:18390002..18391507,2	K562	blood:
48	chr15:60689255..60689964-chr19:18392258..18392841,2	Hela-S3	cervix:
49	chr19:18391645..18392776-chr3:149094513..149095492,3	Hela-S3	cervix:
50	chr19:18300044..18302631-chr19:18389476..18391618,2	K562	blood:

(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
ENSG00000137522	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000236021	chromatin interactions
ENSG00000075142	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000216490	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000073756	chromatin interactions
ENSG00000196576	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000176410	chromatin interactions
ENSG00000165476	chromatin interactions
ENSG00000130511	chromatin interactions
ENSG00000117593	chromatin interactions
ENSG00000258881	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000107957	chromatin interactions
ENSG00000213523	chromatin interactions
ENSG00000141526	chromatin interactions
ENSG00000157637	chromatin interactions
ENSG00000239821	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000130517	chromatin interactions
ENSG00000136044	chromatin interactions
ENSG00000108107	chromatin interactions
ENSG00000105640	chromatin interactions
ENSG00000243678	chromatin interactions
ENSG00000012061	chromatin interactions
ENSG00000254469	chromatin interactions
ENSG00000144043	chromatin interactions
ENSG00000130363	chromatin interactions
ENSG00000196950	chromatin interactions
ENSG00000175489	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000095066	chromatin interactions
ENSG00000273129	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000169908	chromatin interactions
ENSG00000158470	chromatin interactions
ENSG00000105649	chromatin interactions
ENSG00000127585	chromatin interactions
ENSG00000176986	chromatin interactions
ENSG00000207005	chromatin interactions
ENSG00000198890	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000177692	chromatin interactions
ENSG00000228113	chromatin interactions
ENSG00000256982	chromatin interactions
ENSG00000105655	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000182718	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000254858	chromatin interactions
ENSG00000037474	chromatin interactions
ENSG00000120334	chromatin interactions
ENSG00000071462	chromatin interactions
ENSG00000143207	chromatin interactions
ENSG00000163697	chromatin interactions
ENSG00000269145	chromatin interactions
ENSG00000105650	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000256989	chromatin interactions
ENSG00000260285	chromatin interactions
ENSG00000136925	chromatin interactions
ENSG00000234509	chromatin interactions
ENSG00000268173	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000105700	chromatin interactions
ENSG00000139132	chromatin interactions
ENSG00000228384	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000268650	chromatin interactions
ENSG00000130520	chromatin interactions
ENSG00000142168	chromatin interactions
ENSG00000136937	chromatin interactions
ENSG00000163536	chromatin interactions
ENSG00000105656	chromatin interactions
ENSG00000158483	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000198113	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000113739	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000198625	chromatin interactions
ENSG00000221167	chromatin interactions
ENSG00000167491	chromatin interactions
ENSG00000158234	chromatin interactions
ENSG00000141232	chromatin interactions
ENSG00000106211	chromatin interactions
ENSG00000143702	chromatin interactions
ENSG00000271913	chromatin interactions
RPLP1	Mature miRNA region

Extended variants
information (count: 111 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41355150	chr19:18390505-18390506	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
2	rs541023467	chr19:18390511-18390512	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs560924258	chr19:18390516-18390517	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
4	rs529803290	chr19:18390525-18390526	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
5	rs192641207	chr19:18390550-18390551	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
6	rs563448649	chr19:18390565-18390566	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
7	rs532369461	chr19:18390574-18390575	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
8	rs552150750	chr19:18390579-18390580	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs557699029	chr19:18390618-18390619	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs373365631	chr19:18390634-18390635	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs533896386	chr19:18390641-18390642	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
12	rs15212	chr19:18390664-18390665	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
13	rs578260519	chr19:18390672-18390673	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
14	rs41495046	chr19:18390701-18390702	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
15	rs41363545	chr19:18390711-18390712	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
16	rs536344570	chr19:18390725-18390726	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
17	rs556267060	chr19:18390841-18390842	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
18	rs576545629	chr19:18390850-18390851	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
19	rs74881531	chr19:18390863-18390864	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
20	rs4393694	chr19:18390864-18390865	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs9413	chr19:18390865-18390866	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
22	rs200632422	chr19:18390869-18390870	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs3075299	chr19:18390877-18390878	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
24	rs8106809	chr19:18390889-18390890	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540926782	chr19:18390964-18390965	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs572706813	chr19:18390965-18390966	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs183165834	chr19:18391022-18391023	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs541786656	chr19:18391034-18391035	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs377552155	chr19:18391040-18391041	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs560864628	chr19:18391054-18391055	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs201252044	chr19:18391065-18391066	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs143890393	chr19:18391066-18391067	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs71309624	chr19:18391074-18391075	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs1126915	chr19:18391079-18391080	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs3075300	chr19:18391082-18391083	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs141923000	chr19:18391085-18391086	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs3075305	chr19:18391087-18391088	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs71717206	chr19:18391092-18391093	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs41521444	chr19:18391094-18391095	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
40	rs574511411	chr19:18391123-18391124	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
41	rs41352349	chr19:18391142-18391143	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
42	rs41474846	chr19:18391149-18391150	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
43	rs527656222	chr19:18391164-18391165	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
44	rs541443082	chr19:18391168-18391169	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
45	rs7249	chr19:18391171-18391172	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11550220	chr19:18391178-18391179	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
47	rs532178239	chr19:18391185-18391186	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs77680610	chr19:18391199-18391200	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
49	rs545983695	chr19:18391207-18391208	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
50	rs559347104	chr19:18391228-18391229	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

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:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18388800-18390600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
2	chr19:18388800-18390800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:18388800-18390800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
4	chr19:18388800-18391600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:18388800-18391600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
6	chr19:18389000-18390600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr19:18389000-18390600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr19:18389000-18391600	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr19:18389000-18392000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
12	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
13	chr19:18389000-18392200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
14	chr19:18389600-18392400	Active TSS	HSMMtube	muscle
15	chr19:18389800-18393200	Active TSS	Aorta	Aorta
16	chr19:18389800-18393200	Active TSS	Small Intestine	intestine
17	chr19:18389800-18393600	Active TSS	Ovary	ovary
18	chr19:18389800-18393800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:18390000-18391200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:18390000-18391200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:18390000-18391400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:18390000-18392200	Active TSS	Placenta Amnion	Placenta Amnion
23	chr19:18390000-18392400	Active TSS	Gastric	stomach
24	chr19:18390000-18393000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:18390000-18393200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:18390000-18393200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:18390000-18393400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:18390000-18393600	Active TSS	Esophagus	oesophagus
29	chr19:18390000-18393800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr19:18390000-18394000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:18390200-18390600	Flanking Active TSS	Fetal Brain Male	brain
32	chr19:18390200-18390600	Weak transcription	Spleen	Spleen
33	chr19:18390200-18391200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:18390200-18391200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:18390200-18392000	Active TSS	Right Atrium	heart
36	chr19:18390200-18392200	Active TSS	Fetal Kidney	kidney
37	chr19:18390200-18392200	Active TSS	Fetal Lung	lung
38	chr19:18390200-18392200	Active TSS	Stomach Mucosa	stomach
39	chr19:18390200-18392400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:18390200-18392400	Active TSS	NH-A	brain
41	chr19:18390200-18392400	Active TSS	NHLF	lung
42	chr19:18390200-18393000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:18390200-18393000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:18390200-18393000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:18390200-18393000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:18390200-18393000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr19:18390200-18393000	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:18390200-18393000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:18390200-18393000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:18390200-18393000	Active TSS	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links