Variant report

Variant	esv3322534
Chromosome Location	chr14:81685549-81688597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1157)
CpG islands
(count:1222)
Chromatin interactive
region (count:113)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1157 , 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	chr14:81687116-81687995	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:81685621-81685821	K562	blood:	n/a	n/a
3	ARID3A	chr14:81687484-81688039	K562	blood:	n/a	n/a
4	ARID3A	chr14:81685039-81686068	HepG2	liver:	n/a	n/a
5	ATF1	chr14:81685588-81685941	K562	blood:	n/a	chr14:81685744-81685758
6	ATF1	chr14:81687324-81688028	K562	blood:	n/a	n/a
7	ATF2	chr14:81685474-81686222	GM12878	blood:	n/a	chr14:81685744-81685758 chr14:81685746-81685757
8	ATF2	chr14:81685411-81686452	GM12878	blood:	n/a	chr14:81685744-81685758 chr14:81685746-81685757
9	ATF2	chr14:81686714-81687313	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr14:81687333-81687952	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr14:81686734-81687301	GM12878	blood:	n/a	n/a
12	ATF2	chr14:81687193-81687898	GM12878	blood:	n/a	n/a
13	ATF2	chr14:81685409-81686377	H1-hESC	embryonic stem cell:	n/a	chr14:81685744-81685758 chr14:81685746-81685757
14	ATF2	chr14:81687380-81687980	GM12878	blood:	n/a	n/a
15	ATF2	chr14:81685488-81686385	H1-hESC	embryonic stem cell:	n/a	chr14:81685744-81685758 chr14:81685746-81685757
16	ATF2	chr14:81686982-81688130	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr14:81687271-81687881	A549	lung:	n/a	n/a
18	ATF3	chr14:81685521-81686066	A549	lung:	n/a	chr14:81685746-81685757 chr14:81685745-81685755 chr14:81685745-81685758 chr14:81685746-81685757 chr14:81685742-81685756 chr14:81685744-81685757
19	ATF3	chr14:81687382-81687950	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF3	chr14:81687326-81687855	HepG2	liver:	n/a	n/a
21	ATF3	chr14:81687331-81687893	K562	blood:	n/a	n/a
22	ATF3	chr14:81687289-81687959	GM12878	blood:	n/a	n/a
23	ATF3	chr14:81687335-81687839	HepG2	liver:	n/a	n/a
24	ATF3	chr14:81685427-81686110	A549	lung:	n/a	chr14:81685746-81685757 chr14:81685745-81685755 chr14:81685745-81685758 chr14:81685746-81685757 chr14:81685742-81685756 chr14:81685744-81685757
25	BACH1	chr14:81686878-81688305	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr14:81687580-81688500	K562	blood:	n/a	n/a
27	BATF	chr14:81687451-81687975	GM12878	blood:	n/a	n/a
28	BCL11A	chr14:81685524-81685967	GM12878	blood:	n/a	chr14:81685925-81685938
29	BCL3	chr14:81686862-81687293	A549	lung:	n/a	chr14:81687183-81687196 chr14:81687196-81687209 chr14:81687182-81687191
30	BCL3	chr14:81686976-81687797	GM12878	blood:	n/a	chr14:81687183-81687196 chr14:81687402-81687415 chr14:81687196-81687209 chr14:81687182-81687191 chr14:81687398-81687407
31	BCL3	chr14:81687355-81688147	A549	lung:	n/a	chr14:81687402-81687415 chr14:81687398-81687407
32	BCL3	chr14:81685384-81686183	A549	lung:	n/a	chr14:81685925-81685938
33	BCL3	chr14:81685418-81686116	A549	lung:	n/a	chr14:81685925-81685938
34	BCL3	chr14:81687336-81687960	A549	lung:	n/a	chr14:81687402-81687415 chr14:81687398-81687407
35	BCLAF1	chr14:81687325-81688080	GM12878	blood:	n/a	chr14:81687402-81687415 chr14:81687398-81687407
36	BCLAF1	chr14:81686937-81687302	GM12878	blood:	n/a	chr14:81687183-81687196 chr14:81687196-81687209 chr14:81687182-81687191
37	BCLAF1	chr14:81686937-81687307	GM12878	blood:	n/a	chr14:81687183-81687196 chr14:81687196-81687209 chr14:81687182-81687191
38	BCLAF1	chr14:81685426-81686195	GM12878	blood:	n/a	chr14:81685925-81685938
39	BCLAF1	chr14:81687347-81687973	GM12878	blood:	n/a	chr14:81687402-81687415 chr14:81687398-81687407
40	BCLAF1	chr14:81685438-81686524	GM12878	blood:	n/a	chr14:81686237-81686246 chr14:81685925-81685938
41	BHLHE40	chr14:81686966-81688247	HepG2	liver:	n/a	chr14:81687188-81687204 chr14:81687196-81687212
42	BHLHE40	chr14:81687069-81688219	GM12878	blood:	n/a	chr14:81687188-81687204 chr14:81687196-81687212
43	BHLHE40	chr14:81687062-81688503	K562	blood:	n/a	chr14:81687188-81687204 chr14:81687196-81687212
44	BHLHE40	chr14:81685517-81686079	K562	blood:	n/a	n/a
45	BHLHE40	chr14:81687364-81687889	A549	lung:	n/a	n/a
46	BHLHE40	chr14:81685499-81686402	GM12878	blood:	n/a	n/a
47	BHLHE40	chr14:81685517-81686208	HepG2	liver:	n/a	n/a
48	BRCA1	chr14:81685459-81686080	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr14:81686962-81688148	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr14:81685799-81686015	GM12878	blood:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81688339-81688389	GM06990	blood:	n/a
2	chr14:81686966-81687016	IMR90	lung:	fetal
3	chr14:81688339-81688389	GM06990	blood:	n/a
4	chr14:81686966-81687016	IMR90	lung:	fetal
5	chr14:81685801-81685851	Jurkat	blood:	n/a
6	chr14:81686781-81686831	HCF	heart:	n/a
7	chr14:81687124-81687174	RPTEC	kidney:	n/a
8	chr14:81685593-81685643	ovcar-3	ovarian:	n/a
9	chr14:81687483-81687533	HCF	heart:	n/a
10	chr14:81687645-81687695	Jurkat	blood:	n/a
11	chr14:81687491-81687541	HIPEpiC	eye:	n/a
12	chr14:81686781-81686831	PrEC	prostate:	n/a
13	chr14:81688339-81688389	SAEC	small airway:	n/a
14	chr14:81685593-81685643	PrEC	prostate:	n/a
15	chr14:81686781-81686831	HRE	kidney:	n/a
16	chr14:81687645-81687695	NH-A	brain:	n/a
17	chr14:81686857-81686907	HUVEC	blood vessel:	n/a
18	chr14:81687766-81687816	AG09309	skin:	n/a
19	chr14:81687884-81687934	NHBE	bronchial:	n/a
20	chr14:81687483-81687533	K562	blood:	n/a
21	chr14:81685593-81685643	HMEC	breast:	n/a
22	chr14:81685801-81685851	HCF	heart:	n/a
23	chr14:81687754-81687804	GM12891	blood:	n/a
24	chr14:81687959-81688009	Jurkat	blood:	n/a
25	chr14:81685801-81685851	HCT-116	colon:	n/a
26	chr14:81687491-81687541	MCF-7	breast:	n/a
27	chr14:81687884-81687934	ovcar-3	ovarian:	n/a
28	chr14:81687491-81687541	GM12892	blood:	n/a
29	chr14:81687721-81687771	NHDF-neo	bronchial:	n/a
30	chr14:81686966-81687016	Caco-2	colon:	n/a
31	chr14:81687483-81687533	NHBE	bronchial:	n/a
32	chr14:81686232-81686282	AG09309	skin:	n/a
33	chr14:81687884-81687934	NHDF-neo	bronchial:	n/a
34	chr14:81685932-81685982	PrEC	prostate:	n/a
35	chr14:81687766-81687816	NHDF-neo	bronchial:	n/a
36	chr14:81686396-81686446	Caco-2	colon:	n/a
37	chr14:81688339-81688389	HCM	heart:	n/a
38	chr14:81686781-81686831	GM12878	blood:	n/a
39	chr14:81687754-81687804	HCF	heart:	n/a
40	chr14:81687124-81687174	A549	lung:	n/a
41	chr14:81688436-81688486	Caco-2	colon:	n/a
42	chr14:81686232-81686282	RPTEC	kidney:	n/a
43	chr14:81688436-81688486	HEEpiC	esophagus:	n/a
44	chr14:81688339-81688389	GM12878	blood:	n/a
45	chr14:81685801-81685851	HL-60	blood:	n/a
46	chr14:81687491-81687541	ECC-1	luminal epithelium:	n/a
47	chr14:81688436-81688486	HAEpiC	amniotic membrane:	n/a
48	chr14:81686966-81687016	T-47D	breast:	n/a
49	chr14:81686232-81686282	AG09319	gingival:	n/a
50	chr14:81685593-81685643	HIPEpiC	eye:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:81685640..81686282-chr15:75229479..75230350,2	Hela-S3	cervix:
2	chr14:81685634..81686168-chr19:10305182..10305876,2	HCT-116	colon:
3	chr14:81686218..81688258-chr14:81998585..82000595,3	MCF-7	breast:
4	chr14:81685695..81688559-chr14:81726422..81730373,5	MCF-7	breast:
5	chr14:81627657..81630242-chr14:81684338..81686999,2	MCF-7	breast:
6	chr14:81684632..81686408-chr6:42713081..42715473,2	MCF-7	breast:
7	chr14:81685793..81687802-chr17:56735129..56737547,2	MCF-7	breast:
8	chr14:81684973..81686617-chr14:90866095..90868648,2	MCF-7	breast:
9	chr14:81684559..81686962-chr14:81944393..81946438,2	MCF-7	breast:
10	chr14:81685447..81686025-chr17:15902581..15903119,2	Hela-S3	cervix:
11	chr14:81684940..81687366-chr6:99962476..99964757,2	MCF-7	breast:
12	chr1:234612623..234615572-chr14:81684888..81687310,2	MCF-7	breast:
13	chr11:62607847..62610429-chr14:81685823..81688377,2	MCF-7	breast:
14	chr14:81686251..81687140-chr17:48277195..48277771,2	Hela-S3	cervix:
15	chr1:17230734..17232563-chr14:81684596..81686685,2	MCF-7	breast:
16	chr14:81685801..81687372-chr2:20250284..20251948,2	MCF-7	breast:
17	chr14:81651257..81653411-chr14:81683481..81686410,2	MCF-7	breast:
18	chr14:81685756..81686412-chr19:33462858..33463500,2	Hela-S3	cervix:
19	chr14:81687282..81687972-chr7:94139310..94139980,2	Hela-S3	cervix:
20	chr14:81684581..81688465-chr14:81899255..81904181,10	K562	blood:
21	chr14:81686424..81687263-chr17:57917645..57918362,2	Hela-S3	cervix:
22	chr14:81456409..81459092-chr14:81684225..81686871,2	MCF-7	breast:
23	chr1:155293665..155294460-chr14:81685420..81686301,3	Hela-S3	cervix:
24	chr14:81687136..81687796-chr3:135915210..135916162,2	Hela-S3	cervix:
25	chr14:81687764..81689461-chr14:81767377..81769848,3	K562	blood:
26	chr14:81684366..81687032-chr14:81998471..82002054,3	MCF-7	breast:
27	chr14:81684386..81687381-chr14:81725613..81728928,6	MCF-7	breast:
28	chr14:81684496..81687014-chr14:81780787..81782724,4	MCF-7	breast:
29	chr14:81684527..81687237-chr9:91145457..91147469,2	MCF-7	breast:
30	chr14:81684973..81687245-chr14:81740036..81742167,2	K562	blood:
31	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
32	chr14:81684503..81687134-chr14:81866673..81870053,4	K562	blood:
33	chr14:81687360..81688109-chr5:59063848..59064610,2	Hela-S3	cervix:
34	chr14:81685597..81686245-chr14:81700657..81701205,2	MCF-7	breast:
35	chr12:44088284..44089279-chr14:81685253..81685938,2	MCF-7	breast:
36	chr14:81684506..81688423-chr14:81892845..81897193,10	K562	blood:
37	chr14:81686690..81687388-chr3:170587411..170588177,2	Hela-S3	cervix:
38	chr14:81316288..81318355-chr14:81684357..81686706,2	K562	blood:
39	chr14:81635245..81640402-chr14:81683793..81689293,8	MCF-7	breast:
40	chr14:81685352..81686225-chr19:36630968..36631868,2	Hela-S3	cervix:
41	chr14:81684792..81690788-chr14:81724993..81730571,6	K562	blood:
42	chr14:81685913..81687498-chr14:81724486..81727232,2	K562	blood:
43	chr14:81665997..81674006-chr14:81683759..81689461,17	MCF-7	breast:
44	chr14:81686849..81687617-chr19:58873349..58874194,2	Hela-S3	cervix:
45	chr14:81686758..81687640-chr5:176730381..176731086,2	Hela-S3	cervix:
46	chr14:81687510..81689760-chr14:81742676..81747496,4	MCF-7	breast:
47	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:
48	chr14:81686831..81687611-chr4:140374515..140375369,2	MCF-7	breast:
49	chr14:81685585..81686306-chr15:91140987..91141852,2	Hela-S3	cervix:
50	chr14:81686696..81687404-chr16:3070201..3071106,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSHR-2	chr14:81688420-81689753	NONHSAT038057
2	lnc-TSHR-2	chr14:81687723-81689737	NONHSAT038056
3	lnc-TSHR-2	chr14:81687562-81687869	ENSG00000247694
4	lnc-TSHR-2	chr14:81687983-81688799	ENSG00000247694

No data

Variant related genes	Relation type
GTF2A1	TF binding region
GTF2A1	CpG island
ENSG00000172007	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000163584	chromatin interactions
ENSG00000169228	chromatin interactions
ENSG00000230658	chromatin interactions
ENSG00000166822	chromatin interactions
ENSG00000122643	chromatin interactions
ENSG00000073008	chromatin interactions
ENSG00000131944	chromatin interactions
ENSG00000071537	chromatin interactions
ENSG00000113448	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000029364	chromatin interactions
ENSG00000138386	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000270343	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000273247	chromatin interactions
ENSG00000258675	chromatin interactions
ENSG00000132024	chromatin interactions
ENSG00000182325	chromatin interactions
ENSG00000100632	chromatin interactions
ENSG00000130935	chromatin interactions
ENSG00000068697	chromatin interactions
ENSG00000140022	chromatin interactions
ENSG00000122550	chromatin interactions
ENSG00000126247	chromatin interactions
ENSG00000268230	chromatin interactions
ENSG00000042429	chromatin interactions
ENSG00000169230	chromatin interactions
ENSG00000108821	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000178718	chromatin interactions
ENSG00000167978	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000121289	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000223734	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000123552	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000100629	chromatin interactions
ENSG00000011295	chromatin interactions
ENSG00000178741	chromatin interactions
ENSG00000124659	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000255242	chromatin interactions
ENSG00000165409	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000261717	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000006327	chromatin interactions
ENSG00000174586	chromatin interactions
ENSG00000269054	chromatin interactions
ENSG00000258605	chromatin interactions
ENSG00000127995	chromatin interactions
ENSG00000205579	chromatin interactions
ENSG00000132016	chromatin interactions
ENSG00000130816	chromatin interactions
ENSG00000185803	chromatin interactions
ENSG00000242163	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000103253	chromatin interactions
ENSG00000221303	chromatin interactions
ENSG00000258999	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000205913	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000198794	chromatin interactions
ENSG00000261889	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000214941	chromatin interactions
ENSG00000140577	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000059588	chromatin interactions
TAF5	miRNA target sites
TPRG1L	miRNA target sites

Extended variants
information (count: 112 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545772756	chr14:81685551-81685552	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
2	rs573385626	chr14:81685556-81685557	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
3	rs114403252	chr14:81685669-81685670	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	32 gene(s)	Overlapped CNVs	n/a
4	rs1209653	chr14:81685674-81685675	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
5	rs553020613	chr14:81685676-81685677	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
6	rs188272083	chr14:81685729-81685730	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
7	rs191947512	chr14:81685737-81685738	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
8	rs543697539	chr14:81685747-81685748	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
9	rs568661797	chr14:81685796-81685797	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
10	rs546083439	chr14:81685814-81685815	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
11	rs113813830	chr14:81685883-81685884	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
12	rs564087149	chr14:81685899-81685900	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
13	rs564416585	chr14:81685901-81685902	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
14	rs528280003	chr14:81685911-81685912	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
15	rs546526045	chr14:81685924-81685925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
16	rs568197041	chr14:81685925-81685926	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
17	rs530906937	chr14:81685934-81685935	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
18	rs529384206	chr14:81685953-81685954	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
19	rs143987000	chr14:81685979-81685980	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
20	rs375052987	chr14:81686039-81686040	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
21	rs568935101	chr14:81686055-81686056	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
22	rs183814143	chr14:81686102-81686103	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
23	rs558435936	chr14:81686107-81686108	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
24	rs567089800	chr14:81686111-81686112	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
25	rs561864246	chr14:81686158-81686159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
26	rs76511843	chr14:81686159-81686160	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
27	rs556024557	chr14:81686193-81686194	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
28	rs574568409	chr14:81686242-81686243	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
29	rs541962291	chr14:81686246-81686247	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
30	rs116496438	chr14:81686247-81686248	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
31	rs575205892	chr14:81686261-81686262	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	45 gene(s)	Overlapped CNVs	n/a
32	rs10149681	chr14:81686319-81686320	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	39 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs367888610	chr14:81686331-81686332	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
34	rs528406449	chr14:81686366-81686367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
35	rs61980900	chr14:81686436-81686437	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561565281	chr14:81686491-81686492	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
37	rs529321971	chr14:81686493-81686494	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
38	rs550661335	chr14:81686528-81686529	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
39	rs376288328	chr14:81686581-81686582	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
40	rs189178521	chr14:81686608-81686609	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
41	rs562499145	chr14:81686676-81686677	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
42	rs533349782	chr14:81686723-81686724	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
43	rs551529428	chr14:81686757-81686758	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
44	rs546808580	chr14:81686766-81686767	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
45	rs567131183	chr14:81686773-81686774	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
46	rs202118821	chr14:81686791-81686792	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
47	rs369257346	chr14:81686792-81686793	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
48	rs373264796	chr14:81686795-81686796	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
49	rs549564258	chr14:81686825-81686826	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	46 gene(s)	Overlapped CNVs	n/a
50	rs201410281	chr14:81686832-81686833	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81675200-81685600	Weak transcription	Gastric	stomach
2	chr14:81682400-81685800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:81684000-81685600	Flanking Active TSS	Dnd41	blood
4	chr14:81684000-81688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81684200-81685600	Weak transcription	Spleen	Spleen
6	chr14:81684200-81685800	Weak transcription	Small Intestine	intestine
7	chr14:81684200-81689200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:81684400-81687800	Active TSS	Thymus	Thymus
9	chr14:81684400-81687800	Active TSS	K562	blood
10	chr14:81684600-81688000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:81684600-81688000	Active TSS	HSMMtube	muscle
12	chr14:81684600-81688000	Active TSS	NHLF	lung
13	chr14:81684600-81688200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:81684600-81688400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:81684800-81685600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:81684800-81687800	Active TSS	GM12878-XiMat	blood
17	chr14:81684800-81688000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:81684800-81688000	Active TSS	Fetal Brain Female	brain
19	chr14:81684800-81688200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:81684800-81688200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:81684800-81688200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:81684800-81688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:81684800-81688600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:81685000-81685600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr14:81685000-81685800	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr14:81685000-81685800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr14:81685000-81685800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:81685000-81685800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr14:81685000-81687000	Active TSS	Right Atrium	heart
30	chr14:81685000-81687600	Active TSS	HMEC	breast
31	chr14:81685000-81687800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:81685000-81687800	Active TSS	Fetal Thymus	thymus
33	chr14:81685000-81687800	Active TSS	NHDF-Ad	bronchial
34	chr14:81685000-81688000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr14:81685000-81688000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:81685000-81688000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr14:81685000-81688000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:81685000-81688000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81685000-81688000	Active TSS	Brain Germinal Matrix	brain
40	chr14:81685000-81688000	Active TSS	Fetal Intestine Large	intestine
41	chr14:81685000-81688000	Active TSS	Fetal Kidney	kidney
42	chr14:81685000-81688000	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr14:81685000-81688000	Active TSS	Stomach Smooth Muscle	stomach
44	chr14:81685000-81688200	Active TSS	Brain Anterior Caudate	brain
45	chr14:81685000-81688200	Active TSS	Fetal Stomach	stomach
46	chr14:81685000-81688400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:81685000-81688400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:81685200-81685600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr14:81685200-81685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr14:81685200-81685600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links