Variant report

Variant	esv1797163
Chromosome Location	chr14:103541542-103602729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4624)
CpG islands
(count:4153)
Chromatin interactive
region (count:184)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:4624 , 50 per page) page: 1 2 3 4 5 6 7 ... 93

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:103560761-103560942	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:103566903-103567221	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:103565549-103566043	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:103569935-103570315	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:103588551-103588639	K562	blood:	n/a	n/a
6	ARID3A	chr14:103565802-103566010	K562	blood:	n/a	n/a
7	ATF2	chr14:103577790-103578171	GM12878	blood:	n/a	n/a
8	ATF2	chr14:103575031-103575584	GM12878	blood:	n/a	n/a
9	ATF2	chr14:103575194-103575547	GM12878	blood:	n/a	n/a
10	ATF3	chr14:103588318-103588960	A549	lung:	n/a	chr14:103588715-103588724
11	ATF3	chr14:103577741-103578198	A549	lung:	n/a	n/a
12	ATF3	chr14:103576122-103576364	K562	blood:	n/a	n/a
13	ATF3	chr14:103569844-103570270	A549	lung:	n/a	n/a
14	ATF3	chr14:103576065-103576390	K562	blood:	n/a	n/a
15	ATF3	chr14:103576036-103576846	A549	lung:	n/a	n/a
16	ATF3	chr14:103576043-103576454	A549	lung:	n/a	n/a
17	BACH1	chr14:103585426-103585626	K562	blood:	n/a	n/a
18	BACH1	chr14:103588750-103589383	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr14:103590157-103590384	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr14:103593079-103593851	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr14:103571296-103571688	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr14:103576113-103576818	H1-hESC	embryonic stem cell:	n/a	chr14:103576264-103576278
23	BACH1	chr14:103550536-103550651	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr14:103581408-103581696	GM12878	blood:	n/a	n/a
25	BATF	chr14:103575224-103575520	GM12878	blood:	n/a	n/a
26	BATF	chr14:103581402-103581679	GM12878	blood:	n/a	n/a
27	BCL11A	chr14:103575193-103575540	GM12878	blood:	n/a	n/a
28	BCL11A	chr14:103577772-103578104	GM12878	blood:	n/a	chr14:103577990-103577999
29	BCL3	chr14:103574332-103574912	A549	lung:	n/a	n/a
30	BCL3	chr14:103541796-103542296	A549	lung:	n/a	chr14:103542007-103542020 chr14:103542011-103542024
31	BCL3	chr14:103575207-103575590	GM12878	blood:	n/a	n/a
32	BCL3	chr14:103575099-103575567	A549	lung:	n/a	n/a
33	BCL3	chr14:103577759-103578189	GM12878	blood:	n/a	chr14:103577990-103577999
34	BCL3	chr14:103570422-103571898	A549	lung:	n/a	n/a
35	BCL3	chr14:103569792-103570417	A549	lung:	n/a	chr14:103570220-103570233 chr14:103570226-103570239 chr14:103570242-103570255
36	BCL3	chr14:103540633-103541791	A549	lung:	n/a	chr14:103541631-103541640 chr14:103541499-103541507 chr14:103541628-103541637
37	BCL3	chr14:103571268-103571865	A549	lung:	n/a	n/a
38	BCL3	chr14:103598970-103599552	A549	lung:	n/a	n/a
39	BCL3	chr14:103577499-103578308	A549	lung:	n/a	chr14:103577990-103577999
40	BCL3	chr14:103574972-103575579	A549	lung:	n/a	n/a
41	BCL3	chr14:103576004-103576921	A549	lung:	n/a	n/a
42	BCL3	chr14:103587176-103589375	A549	lung:	n/a	chr14:103588863-103588872 chr14:103589256-103589269 chr14:103589069-103589082 chr14:103588793-103588802 chr14:103588610-103588619
43	BCL3	chr14:103569727-103570387	A549	lung:	n/a	chr14:103570220-103570233 chr14:103570226-103570239 chr14:103570242-103570255
44	BCL3	chr14:103577453-103578257	A549	lung:	n/a	chr14:103577990-103577999
45	BCL3	chr14:103587831-103589204	A549	lung:	n/a	chr14:103588863-103588872 chr14:103589069-103589082 chr14:103588793-103588802 chr14:103588610-103588619
46	BCLAF1	chr14:103577711-103578098	GM12878	blood:	n/a	chr14:103577990-103577999
47	BCLAF1	chr14:103571271-103571668	GM12878	blood:	n/a	n/a
48	BHLHE40	chr14:103560522-103560926	HepG2	liver:	n/a	n/a
49	BHLHE40	chr14:103590075-103590269	K562	blood:	n/a	n/a
50	BHLHE40	chr14:103569833-103570616	HepG2	liver:	n/a	chr14:103569858-103569874

(count:4153 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:103593235-103593285	HEK293	kidney:	embryo
2	chr14:103592734-103592784	Jurkat	blood:	n/a
3	chr14:103566384-103566434	HPAEpiC	pulmonary alveolar:	n/a
4	chr14:103592642-103592692	GM12892	blood:	n/a
5	chr14:103558080-103558130	K562	blood:	n/a
6	chr14:103593235-103593285	HEK293	kidney:	embryo
7	chr14:103592734-103592784	Jurkat	blood:	n/a
8	chr14:103566384-103566434	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:103592642-103592692	GM12892	blood:	n/a
10	chr14:103558080-103558130	K562	blood:	n/a
11	chr14:103542167-103542217	HEEpiC	esophagus:	n/a
12	chr14:103601623-103601673	HMEC	breast:	n/a
13	chr14:103550452-103550502	Caco-2	colon:	n/a
14	chr14:103591749-103591799	AG09319	gingival:	n/a
15	chr14:103546112-103546162	SK-N-SH	brain:	n/a
16	chr14:103599204-103599254	A549	lung:	n/a
17	chr14:103589780-103589830	NT2-D1	testis:	n/a
18	chr14:103593235-103593285	MCF-7	breast:	n/a
19	chr14:103569397-103569447	HMEC	breast:	n/a
20	chr14:103592395-103592445	AG10803	skin:	n/a
21	chr14:103593907-103593957	NHDF-neo	bronchial:	n/a
22	chr14:103592734-103592784	AG09319	gingival:	n/a
23	chr14:103590195-103590245	PrEC	prostate:	n/a
24	chr14:103593503-103593553	HCM	heart:	n/a
25	chr14:103593088-103593138	HUVEC	blood vessel:	n/a
26	chr14:103601623-103601673	HEEpiC	esophagus:	n/a
27	chr14:103550918-103550968	CMK	blood:	n/a
28	chr14:103576399-103576449	PANC-1	pancreas:	n/a
29	chr14:103566384-103566434	HCT-116	colon:	n/a
30	chr14:103574043-103574093	NHDF-neo	bronchial:	n/a
31	chr14:103571370-103571420	HAEpiC	amniotic membrane:	n/a
32	chr14:103574566-103574616	HIPEpiC	eye:	n/a
33	chr14:103566384-103566434	NT2-D1	testis:	n/a
34	chr14:103550918-103550968	HEK293	kidney:	embryo
35	chr14:103546492-103546542	HCPEpiC	choroid plexus:	n/a
36	chr14:103569397-103569447	SK-N-SH	brain:	n/a
37	chr14:103558502-103558552	Caco-2	colon:	n/a
38	chr14:103590115-103590165	PANC-1	pancreas:	n/a
39	chr14:103570024-103570074	GM19239	blood:	n/a
40	chr14:103599204-103599254	HAEpiC	amniotic membrane:	n/a
41	chr14:103599552-103599602	NH-A	brain:	n/a
42	chr14:103541561-103541611	NH-A	brain:	n/a
43	chr14:103589028-103589078	SK-N-SH_RA	brain:	n/a
44	chr14:103569127-103569177	PrEC	prostate:	n/a
45	chr14:103565915-103565965	ovcar-3	ovarian:	n/a
46	chr14:103597257-103597307	HRCEpiC	kidney:	n/a
47	chr14:103558502-103558552	K562	blood:	n/a
48	chr14:103601623-103601673	SK-N-SH	brain:	n/a
49	chr14:103599552-103599602	SK-N-SH	brain:	n/a
50	chr14:103592526-103592576	IMR90	lung:	fetal

(count:184 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:103522699..103525632-chr14:103556141..103560258,4	MCF-7	breast:
2	chr14:103567069..103569834-chr14:103576905..103579474,3	MCF-7	breast:
3	chr14:103568070..103570853-chr14:103571452..103573134,2	K562	blood:
4	chr14:103543355..103545298-chr14:103648839..103651591,2	MCF-7	breast:
5	chr14:103570362..103572900-chr14:103575338..103578776,3	MCF-7	breast:
6	chr14:103541538..103542526-chr14:103570755..103572781,5	MCF-7	breast:
7	chr14:103563677..103565936-chr14:103851326..103854090,2	K562	blood:
8	chr14:103540581..103543429-chr14:103599360..103601090,2	K562	blood:
9	chr14:103571442..103572337-chr14:103758973..103759662,3	MCF-7	breast:
10	chr14:103556407..103561233-chr14:103567627..103572932,6	MCF-7	breast:
11	chr14:103550800..103553576-chr14:103553862..103557774,4	K562	blood:
12	chr14:103569805..103576817-chr14:103588576..103594112,12	MCF-7	breast:
13	chr14:103564073..103567062-chr14:103574590..103578237,4	K562	blood:
14	chr14:103566955..103568777-chr14:103799634..103801246,2	MCF-7	breast:
15	chr14:103557947..103559583-chr14:103592100..103594851,2	K562	blood:
16	chr14:103545642..103549847-chr14:103799944..103802424,3	MCF-7	breast:
17	chr14:103578685..103581684-chr14:103987415..103989453,2	K562	blood:
18	chr14:103556407..103561233-chr14:103567627..103572932,6	MCF-7	breast:
19	chr14:103541256..103541826-chr14:103595707..103596460,2	MCF-7	breast:
20	chr14:103568908..103575214-chr14:103575766..103579937,9	MCF-7	breast:
21	chr14:103516083..103517697-chr14:103558200..103560331,2	MCF-7	breast:
22	chr14:103546705..103548630-chr14:103549660..103552186,2	MCF-7	breast:
23	chr14:103556678..103559608-chr14:103562904..103565903,2	K562	blood:
24	chr14:103593122..103593808-chr14:103651384..103652081,3	MCF-7	breast:
25	chr14:103564910..103567643-chr14:103588455..103591341,4	K562	blood:
26	chr14:103540748..103543589-chr14:103756933..103760919,4	MCF-7	breast:
27	chr14:103575396..103578393-chr14:103594239..103597610,4	MCF-7	breast:
28	chr14:103532439..103535007-chr14:103541881..103544284,2	MCF-7	breast:
29	chr14:103568554..103572172-chr14:103573343..103577094,4	K562	blood:
30	chr14:103588473..103591994-chr14:103798273..103803863,5	K562	blood:
31	chr14:103564713..103566329-chr14:103567374..103570923,3	K562	blood:
32	chr14:103575713..103578943-chr14:103582593..103586383,4	MCF-7	breast:
33	chr14:103587793..103589963-chr14:103986359..103988722,2	K562	blood:
34	chr14:103576467..103577066-chr14:103589833..103590530,2	MCF-7	breast:
35	chr14:103549538..103553400-chr14:103555158..103558577,4	MCF-7	breast:
36	chr14:103552940..103555681-chr14:103563923..103566216,2	MCF-7	breast:
37	chr14:103569915..103572779-chr14:103799600..103802171,2	K562	blood:
38	chr14:103554168..103555778-chr14:103556547..103559293,2	K562	blood:
39	chr14:103544393..103546544-chr14:103819629..103822600,2	MCF-7	breast:
40	chr14:103590750..103593457-chr14:103797267..103800178,2	MCF-7	breast:
41	chr14:103561728..103568292-chr14:103568379..103571238,8	K562	blood:
42	chr14:103568554..103572172-chr14:103573343..103577094,4	K562	blood:
43	chr14:103522023..103526677-chr14:103539052..103543430,10	MCF-7	breast:
44	chr14:103561949..103564112-chr14:103573239..103574885,2	K562	blood:
45	chr14:103546705..103548630-chr14:103549660..103552186,2	MCF-7	breast:
46	chr14:103488177..103490388-chr14:103594217..103596552,2	MCF-7	breast:
47	chr14:103593582..103595421-chr14:103799792..103802389,2	MCF-7	breast:
48	chr14:103573850..103575579-chr17:56735311..56737599,2	MCF-7	breast:
49	chr14:103570168..103572327-chr14:103851557..103853448,2	K562	blood:
50	chr14:103545862..103547540-chr14:103551429..103553514,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-736N17.6.1-3	chr14:103589197-103589344	ENSG00000259717.1
2	lnc-RP11-736N17.6.1-3	chr14:103587184-103587368	ENSG00000259717.1
3	lnc-TNFAIP2-1	chr14:103586354-103586942	XLOC_010942
4	lnc-RP11-736N17.6.1-3	chr14:103587190-103587368	ENSG00000259717.1
5	lnc-EXOC3L4-1	chr14:103561060-103561177	ENSG00000259444.1
6	lnc-EXOC3L4-1	chr14:103564955-103565222	ENSG00000259444.1
7	lnc-RP11-736N17.6.1-3	chr14:103588946-103589246	ENSG00000259717.1
8	lnc-TNFAIP2-1	chr14:103585407-103585457	XLOC_010942

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TNFAIP2	hsa-miR-7-5p	chr14:103602612-103602632
2	TNFAIP2	hsa-miR-30a-5p	chr14:103601863-103601886

Variant related genes	Relation type
EXOC3L4	TF binding region
ENSG00000259374	TF binding region
LINC00677	TF binding region
ENSG00000259444	TF binding region
TNFAIP2	TF binding region
EXOC3L4	CpG island
ENSG00000259374	CpG island
LINC00677	CpG island
ENSG00000259444	CpG island
TNFAIP2	CpG island
ENSG00000132824	chromatin interactions
ENSG00000108256	chromatin interactions
ENSG00000259535	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000075413	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000198752	chromatin interactions
ENSG00000259525	chromatin interactions
ENSG00000259444	chromatin interactions
ENSG00000259717	chromatin interactions
ENSG00000270705	chromatin interactions
ENSG00000272533	chromatin interactions
ENSG00000167094	chromatin interactions
ENSG00000187024	chromatin interactions
ENSG00000185215	chromatin interactions
ENSG00000259374	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000166165	chromatin interactions
ENSG00000205436	chromatin interactions
ENSG00000259775	chromatin interactions
ENSG00000131323	chromatin interactions
ENSG00000100664	chromatin interactions

Extended variants
information (count: 2758 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2758 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546477179	chr14:103541606-103541607	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs566617774	chr14:103541613-103541614	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs369623936	chr14:103541659-103541660	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs558861212	chr14:103541663-103541664	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs571694402	chr14:103541764-103541765	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs147943669	chr14:103541769-103541770	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs537425276	chr14:103541824-103541825	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs557530369	chr14:103541865-103541866	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs185744682	chr14:103541983-103541984	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs200554089	chr14:103542009-103542010	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs536703707	chr14:103542014-103542015	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs112895247	chr14:103542021-103542022	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs373873570	chr14:103542096-103542097	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs370801444	chr14:103542100-103542101	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs186369602	chr14:103542140-103542141	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs78584137	chr14:103542182-103542183	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs111931810	chr14:103542189-103542190	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs541765517	chr14:103542310-103542311	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs370892506	chr14:103542362-103542363	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs78009999	chr14:103542367-103542368	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs543797531	chr14:103542393-103542394	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs190892715	chr14:103542486-103542487	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs183101956	chr14:103542489-103542490	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs557007931	chr14:103542533-103542534	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs529758574	chr14:103542599-103542600	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs150961056	chr14:103542637-103542638	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs560108585	chr14:103542678-103542679	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs187736320	chr14:103542698-103542699	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs552531152	chr14:103542708-103542709	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569161976	chr14:103542715-103542716	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs115178537	chr14:103542759-103542760	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs550996860	chr14:103542761-103542762	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs567609093	chr14:103542771-103542772	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs376348009	chr14:103542841-103542842	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs74784321	chr14:103542936-103542937	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs76280880	chr14:103542938-103542939	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs77376834	chr14:103542939-103542940	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs79964675	chr14:103542940-103542941	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs74945218	chr14:103542942-103542943	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs78393264	chr14:103542945-103542946	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs77896155	chr14:103542948-103542949	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs79072745	chr14:103542953-103542954	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs76948258	chr14:103542966-103542967	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs75449383	chr14:103542967-103542968	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs77719764	chr14:103542968-103542969	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs76404684	chr14:103542970-103542971	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs75639152	chr14:103542971-103542972	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs78903339	chr14:103542974-103542975	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs79602036	chr14:103542977-103542978	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs74828037	chr14:103542978-103542979	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Cancer	17160897	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:3630 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103530400-103541600	Enhancers	Placenta	Placenta
2	chr14:103534600-103541600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:103536000-103541600	Enhancers	Esophagus	oesophagus
4	chr14:103536800-103542400	Enhancers	Stomach Mucosa	stomach
5	chr14:103537000-103541800	Enhancers	Spleen	Spleen
6	chr14:103537200-103541800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:103537600-103541600	Enhancers	Lung	lung
8	chr14:103538000-103541600	Enhancers	Fetal Intestine Small	intestine
9	chr14:103538200-103541800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:103538800-103541800	Enhancers	Pancreas	Pancrea
11	chr14:103538800-103541800	Flanking Active TSS	A549	lung
12	chr14:103539000-103541600	Enhancers	Fetal Intestine Large	intestine
13	chr14:103539400-103541600	Enhancers	Left Ventricle	heart
14	chr14:103539400-103541600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:103539400-103541600	Enhancers	NHDF-Ad	bronchial
16	chr14:103539400-103541800	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr14:103539600-103541600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:103540000-103541600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr14:103540000-103541600	Enhancers	Right Ventricle	heart
20	chr14:103540200-103541600	Enhancers	Colonic Mucosa	Colon
21	chr14:103540200-103541600	Enhancers	Stomach Smooth Muscle	stomach
22	chr14:103540400-103541600	Enhancers	Right Atrium	heart
23	chr14:103540400-103542600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:103540600-103541600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:103540600-103541600	Enhancers	Fetal Muscle Leg	muscle
26	chr14:103540600-103541800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:103540800-103541600	Enhancers	Gastric	stomach
28	chr14:103540800-103541600	Enhancers	NHLF	lung
29	chr14:103540800-103542000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr14:103541000-103541600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr14:103541000-103541600	Enhancers	HUVEC	blood vessel
32	chr14:103541000-103541800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:103541000-103541800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:103541000-103541800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr14:103541000-103542000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:103541000-103542000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:103541000-103542000	Enhancers	HSMMtube	muscle
38	chr14:103541200-103541600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr14:103541200-103541600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:103541200-103541600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
41	chr14:103541200-103541600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr14:103541200-103541600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr14:103541200-103541600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:103541200-103541600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr14:103541200-103541600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:103541200-103541600	Enhancers	GM12878-XiMat	blood
47	chr14:103541200-103541600	Enhancers	HMEC	breast
48	chr14:103541200-103541800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:103541200-103541800	Enhancers	Liver	Liver
50	chr14:103541200-103541800	Enhancers	Ovary	ovary

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