Variant report

Variant	esv1831401
Chromosome Location	chr14:71786411-71845264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2000)
CpG islands
(count:856)
Chromatin interactive
region (count:62)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2000 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:71838645-71839074	K562	blood:	n/a	n/a
2	ARID3A	chr14:71791433-71791950	K562	blood:	n/a	n/a
3	ARID3A	chr14:71788588-71789002	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:71827818-71828991	K562	blood:	n/a	n/a
5	ARID3A	chr14:71803193-71803762	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:71826683-71827315	K562	blood:	n/a	n/a
7	ARID3A	chr14:71787874-71787907	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:71789439-71789679	K562	blood:	n/a	n/a
9	ARID3A	chr14:71786747-71787215	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:71822547-71822809	K562	blood:	n/a	n/a
11	ARID3A	chr14:71806367-71807106	K562	blood:	n/a	n/a
12	ATF1	chr14:71806538-71806848	K562	blood:	n/a	n/a
13	ATF1	chr14:71828114-71828447	K562	blood:	n/a	n/a
14	ATF1	chr14:71822642-71822969	K562	blood:	n/a	n/a
15	ATF1	chr14:71829996-71830196	K562	blood:	n/a	n/a
16	ATF1	chr14:71786899-71787253	K562	blood:	n/a	n/a
17	ATF1	chr14:71791516-71791921	K562	blood:	n/a	n/a
18	ATF2	chr14:71786813-71787233	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr14:71786718-71787308	GM12878	blood:	n/a	n/a
20	ATF2	chr14:71824862-71825400	GM12878	blood:	n/a	n/a
21	ATF2	chr14:71786767-71787272	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr14:71791450-71792187	GM12878	blood:	n/a	n/a
23	ATF2	chr14:71786739-71787483	GM12878	blood:	n/a	n/a
24	ATF2	chr14:71794730-71795324	GM12878	blood:	n/a	n/a
25	ATF2	chr14:71791477-71792094	GM12878	blood:	n/a	n/a
26	ATF2	chr14:71824757-71825784	GM12878	blood:	n/a	n/a
27	ATF3	chr14:71786801-71787120	K562	blood:	n/a	n/a
28	ATF3	chr14:71830692-71830995	K562	blood:	n/a	n/a
29	ATF3	chr14:71786897-71787101	K562	blood:	n/a	n/a
30	BACH1	chr14:71826533-71826586	K562	blood:	n/a	n/a
31	BACH1	chr14:71786361-71787281	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr14:71815124-71815453	GM12878	blood:	n/a	n/a
33	BATF	chr14:71799237-71799505	GM12878	blood:	n/a	n/a
34	BATF	chr14:71787112-71787386	GM12878	blood:	n/a	n/a
35	BATF	chr14:71829068-71829324	GM12878	blood:	n/a	n/a
36	BATF	chr14:71800489-71800853	GM12878	blood:	n/a	n/a
37	BATF	chr14:71829034-71829318	GM12878	blood:	n/a	n/a
38	BATF	chr14:71799289-71799501	GM12878	blood:	n/a	n/a
39	BATF	chr14:71794851-71795169	GM12878	blood:	n/a	n/a
40	BATF	chr14:71838759-71839035	GM12878	blood:	n/a	n/a
41	BATF	chr14:71791521-71791946	GM12878	blood:	n/a	n/a
42	BCL11A	chr14:71791568-71791996	GM12878	blood:	n/a	n/a
43	BCL11A	chr14:71815176-71815364	GM12878	blood:	n/a	n/a
44	BCL11A	chr14:71786999-71787439	GM12878	blood:	n/a	chr14:71787286-71787299 chr14:71787358-71787367
45	BCL11A	chr14:71794905-71795210	GM12878	blood:	n/a	n/a
46	BCL3	chr14:71786608-71787295	A549	lung:	n/a	chr14:71786990-71786999
47	BCL3	chr14:71786973-71787501	GM12878	blood:	n/a	chr14:71787286-71787299 chr14:71787358-71787367 chr14:71786990-71786999
48	BCL3	chr14:71824897-71825413	GM12878	blood:	n/a	n/a
49	BCL3	chr14:71791537-71791951	GM12878	blood:	n/a	n/a
50	BCLAF1	chr14:71792426-71793024	GM12878	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71786911-71786961	Hepatocyte	liver:	n/a
2	chr14:71786811-71786861	HCT-116	colon:	n/a
3	chr14:71786911-71786961	Hepatocyte	liver:	n/a
4	chr14:71786811-71786861	HCT-116	colon:	n/a
5	chr14:71803860-71803910	ovcar-3	ovarian:	n/a
6	chr14:71786811-71786861	GM12878	blood:	n/a
7	chr14:71787570-71787620	K562	blood:	n/a
8	chr14:71831132-71831182	PANC-1	pancreas:	n/a
9	chr14:71831132-71831182	AG10803	skin:	n/a
10	chr14:71787552-71787602	GM19239	blood:	n/a
11	chr14:71803860-71803910	HEK293	kidney:	embryo
12	chr14:71822452-71822502	NB4	blood:	n/a
13	chr14:71788528-71788578	K562	blood:	n/a
14	chr14:71787215-71787265	BE2_C	brain:	n/a
15	chr14:71787996-71788046	AG09309	skin:	n/a
16	chr14:71805172-71805222	HEK293	kidney:	embryo
17	chr14:71788121-71788171	GM06990	blood:	n/a
18	chr14:71788121-71788171	NHBE	bronchial:	n/a
19	chr14:71787552-71787602	MCF-7	breast:	n/a
20	chr14:71787996-71788046	GM19239	blood:	n/a
21	chr14:71788121-71788171	HL-60	blood:	n/a
22	chr14:71787215-71787265	HEEpiC	esophagus:	n/a
23	chr14:71831132-71831182	Hela-S3	cervix:	n/a
24	chr14:71788121-71788171	HCM	heart:	n/a
25	chr14:71787570-71787620	Hela-S3	cervix:	n/a
26	chr14:71787996-71788046	HCT-116	colon:	n/a
27	chr14:71822452-71822502	A549	lung:	n/a
28	chr14:71787552-71787602	K562	blood:	n/a
29	chr14:71805172-71805222	GM12878	blood:	n/a
30	chr14:71787552-71787602	GM06990	blood:	n/a
31	chr14:71787996-71788046	K562	blood:	n/a
32	chr14:71791671-71791721	SK-N-MC	brain:	n/a
33	chr14:71828969-71829019	HL-60	blood:	n/a
34	chr14:71787215-71787265	NHBE	bronchial:	n/a
35	chr14:71805172-71805222	A549	lung:	n/a
36	chr14:71787552-71787602	HIPEpiC	eye:	n/a
37	chr14:71803860-71803910	K562	blood:	n/a
38	chr14:71831132-71831182	HMEC	breast:	n/a
39	chr14:71803860-71803910	BE2_C	brain:	n/a
40	chr14:71791671-71791721	HRE	kidney:	n/a
41	chr14:71805172-71805222	ovcar-3	ovarian:	n/a
42	chr14:71787570-71787620	NT2-D1	testis:	n/a
43	chr14:71831132-71831182	NB4	blood:	n/a
44	chr14:71831132-71831182	CMK	blood:	n/a
45	chr14:71786911-71786961	NH-A	brain:	n/a
46	chr14:71805172-71805222	NT2-D1	testis:	n/a
47	chr14:71787552-71787602	HRPEpiC	eye:	n/a
48	chr14:71791671-71791721	HRPEpiC	eye:	n/a
49	chr14:71831132-71831182	HL-60	blood:	n/a
50	chr14:71787552-71787602	SK-N-MC	brain:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:71814160..71816838-chr14:71818197..71820269,2	K562	blood:
2	chr14:71800518..71803651-chr14:71803706..71805417,3	K562	blood:
3	chr14:71826599..71830201-chr14:71841493..71843609,3	K562	blood:
4	chr14:71808614..71810391-chr14:71815911..71818051,2	MCF-7	breast:
5	chr14:71798952..71801430-chr14:71804275..71806648,2	MCF-7	breast:
6	chr14:71794392..71797921-chr14:71798373..71800802,3	K562	blood:
7	chr14:71786919..71789701-chr14:71792823..71795908,5	MCF-7	breast:
8	chr14:71647115..71649453-chr14:71786412..71788278,2	MCF-7	breast:
9	chr14:71786183..71790098-chr14:71837294..71842439,6	MCF-7	breast:
10	chr14:71826599..71830607-chr14:71841838..71843609,3	K562	blood:
11	chr14:71787763..71790118-chr14:71843574..71845366,2	MCF-7	breast:
12	chr14:71809579..71811386-chr14:71818060..71820070,2	MCF-7	breast:
13	chr14:71806633..71808372-chr14:71827930..71830217,2	K562	blood:
14	chr14:71797330..71800030-chr14:71818057..71820086,2	K562	blood:
15	chr14:71789873..71790710-chr8:48051511..48052153,2	MCF-7	breast:
16	chr14:71795677..71799394-chr14:71802071..71806003,3	K562	blood:
17	chr14:71814153..71816192-chr14:71816811..71819401,2	MCF-7	breast:
18	chr14:71791876..71795993-chr14:71799711..71802625,3	MCF-7	breast:
19	chr14:71826599..71830201-chr14:71841493..71843609,3	K562	blood:
20	chr14:71789768..71791635-chr14:71800055..71801739,2	MCF-7	breast:
21	chr14:71776798..71778756-chr14:71785140..71789113,3	MCF-7	breast:
22	chr14:71787272..71789927-chr14:72149469..72152199,2	MCF-7	breast:
23	chr14:71787414..71788237-chr2:85766306..85767247,2	Hela-S3	cervix:
24	chr14:71791876..71795993-chr14:71799711..71802625,3	MCF-7	breast:
25	chr14:71829682..71831529-chr14:71835812..71838531,2	K562	blood:
26	chr14:71789121..71789661-chr14:71870291..71871015,2	MCF-7	breast:
27	chr14:71787369..71788975-chr14:71829951..71832025,2	MCF-7	breast:
28	chr14:71785725..71788316-chr14:71827097..71829601,2	K562	blood:
29	chr14:71786395..71789209-chr14:71803171..71805833,4	MCF-7	breast:
30	chr14:71786410..71789400-chr14:71837882..71840827,2	MCF-7	breast:
31	chr14:71785991..71787659-chr14:71794952..71796874,2	K562	blood:
32	chr14:71786721..71787223-chr19:9929449..9930057,2	NB4	blood:
33	chr14:71780085..71783168-chr14:71784973..71787067,3	K562	blood:
34	chr14:71815345..71818974-chr14:71820775..71823679,4	K562	blood:
35	chr14:71800518..71803651-chr14:71803706..71805417,3	K562	blood:
36	chr14:71789768..71791635-chr14:71800055..71801739,2	MCF-7	breast:
37	chr14:71815345..71818974-chr14:71820775..71823679,4	K562	blood:
38	chr14:71814160..71816838-chr14:71818197..71820269,2	K562	blood:
39	chr14:71801351..71803651-chr14:71803706..71805302,3	K562	blood:
40	chr14:71608562..71610263-chr14:71786915..71789760,2	MCF-7	breast:
41	chr14:71802119..71805071-chr14:71825768..71827971,2	K562	blood:
42	chr14:71797494..71799680-chr14:71814031..71816377,2	K562	blood:
43	chr14:71802119..71805071-chr14:71825768..71827971,2	K562	blood:
44	chr14:71814153..71816192-chr14:71816811..71819401,2	MCF-7	breast:
45	chr14:71808614..71810391-chr14:71815911..71818051,2	MCF-7	breast:
46	chr14:71826599..71830607-chr14:71841838..71843609,3	K562	blood:
47	chr14:71786731..71789364-chr14:71821849..71823706,2	MCF-7	breast:
48	chr1:24127046..24127839-chr14:71786977..71787974,2	Hela-S3	cervix:
49	chr14:71787090..71788740-chr14:71796543..71798453,2	MCF-7	breast:
50	chr14:71798952..71801430-chr14:71804275..71806648,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIPA1L1-2	chr14:71820682-71821010	NONHSAT037636
2	lnc-MAP3K9-3	chr14:71788391-71788653	XLOC_011064
3	lnc-MAP3K9-3	chr14:71788391-71788531	ENSG00000259146.1
4	lnc-SIPA1L1-2	chr14:71787839-71787898	NONHSAT037631
5	lnc-MAP3K9-3	chr14:71786892-71787038	XLOC_011064
6	lnc-SIPA1L1-2	chr14:71787190-71787220	NONHSAT037631
7	lnc-MAP3K9-3	chr14:71786892-71787882	XLOC_011064
8	lnc-MAP3K9-3	chr14:71788499-71788530	XLOC_011064
9	lnc-MAP3K9-3	chr14:71788391-71788532	XLOC_011064
10	lnc-SIPA1L1-2	chr14:71837588-71838149	NONHSAT037636

No data

Variant related genes	Relation type
ENSG00000259079	TF binding region
ENSG00000259146	TF binding region
SIPA1L1	TF binding region
ENSG00000259079	CpG island
ENSG00000259146	CpG island
SIPA1L1	CpG island
ENSG00000168906	chromatin interactions
ENSG00000259079	chromatin interactions
ENSG00000127452	chromatin interactions
ENSG00000259146	chromatin interactions
ENSG00000259907	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000207444	chromatin interactions
ENSG00000197555	chromatin interactions
ENSG00000269927	chromatin interactions
HELZ	miRNA target sites
AKAP12	miRNA target sites
CD46	miRNA target sites

Extended variants
information (count: 1927 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1927 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183076343	chr14:71786439-71786440	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs547717608	chr14:71786470-71786471	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs34635034	chr14:71786484-71786485	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs6574012	chr14:71786492-71786493	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562971929	chr14:71786504-71786505	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530112469	chr14:71786527-71786528	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs58376573	chr14:71786548-71786549	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560749808	chr14:71786562-71786563	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs55763740	chr14:71786563-71786564	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187726013	chr14:71786584-71786585	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs191461980	chr14:71786602-71786603	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs538060660	chr14:71786633-71786634	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs577739877	chr14:71786644-71786645	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs549464864	chr14:71786745-71786746	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs145329845	chr14:71786786-71786787	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs202229852	chr14:71786849-71786850	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs535067742	chr14:71786866-71786867	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs553380873	chr14:71786913-71786914	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs571968814	chr14:71786947-71786948	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs539685833	chr14:71787023-71787024	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
21	rs557776720	chr14:71787029-71787030	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs576139750	chr14:71787044-71787045	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs543298493	chr14:71787128-71787129	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs556685151	chr14:71787170-71787171	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs575018229	chr14:71787172-71787173	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
26	rs182486690	chr14:71787187-71787188	Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
27	rs560482653	chr14:71787269-71787270	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
28	rs527697997	chr14:71787293-71787294	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
29	rs546432664	chr14:71787304-71787305	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
30	rs564676051	chr14:71787328-71787329	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
31	rs531925097	chr14:71787334-71787335	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
32	rs188390508	chr14:71787353-71787354	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
33	rs567795142	chr14:71787391-71787392	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
34	rs554670056	chr14:71787420-71787421	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs376923072	chr14:71787421-71787422	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs528927926	chr14:71787423-71787424	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
37	rs547106267	chr14:71787424-71787425	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs565629802	chr14:71787425-71787426	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
39	rs10129431	chr14:71787440-71787441	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34093378	chr14:71787453-71787454	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
41	rs558028723	chr14:71787485-71787486	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
42	rs569890859	chr14:71787488-71787489	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
43	rs537225838	chr14:71787493-71787494	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
44	rs555626731	chr14:71787498-71787499	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs573900791	chr14:71787532-71787533	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs542307201	chr14:71787568-71787569	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs554313761	chr14:71787612-71787613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs572403923	chr14:71787627-71787628	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs545919355	chr14:71787665-71787666	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
50	rs531941174	chr14:71787787-71787788	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2021 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71786000-71786600	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:71786000-71789200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr14:71786200-71786600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr14:71786200-71786600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:71786200-71786600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:71786200-71786600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:71786200-71786600	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:71786200-71786600	Enhancers	Primary T cells from cord blood	blood
9	chr14:71786200-71786600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:71786200-71786600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:71786200-71786600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:71786200-71786600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:71786200-71786600	Flanking Active TSS	Fetal Heart	heart
14	chr14:71786200-71786600	Flanking Active TSS	Fetal Lung	lung
15	chr14:71786200-71786600	Enhancers	Fetal Thymus	thymus
16	chr14:71786200-71786600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr14:71786200-71786600	Flanking Active TSS	A549	lung
18	chr14:71786200-71786600	Flanking Active TSS	NHDF-Ad	bronchial
19	chr14:71786200-71786600	Flanking Active TSS	Osteobl	bone
20	chr14:71786200-71786800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:71786200-71786800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:71786200-71786800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:71786200-71786800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr14:71786200-71786800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr14:71786200-71786800	Flanking Active TSS	Hela-S3	cervix
26	chr14:71786200-71787000	Flanking Active TSS	Liver	Liver
27	chr14:71786200-71787000	Flanking Active TSS	GM12878-XiMat	blood
28	chr14:71786200-71788600	Active TSS	Fetal Stomach	stomach
29	chr14:71786200-71789000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:71786200-71789200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr14:71786200-71789200	Active TSS	Stomach Smooth Muscle	stomach
32	chr14:71786200-71789600	Active TSS	Rectal Smooth Muscle	rectum
33	chr14:71786200-71790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:71786400-71786600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr14:71786400-71786600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:71786400-71786600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:71786400-71786600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:71786400-71786600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:71786400-71786600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr14:71786400-71786600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:71786400-71786600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:71786400-71786600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr14:71786400-71786600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr14:71786400-71786600	Enhancers	Primary hematopoietic stem cells	blood
45	chr14:71786400-71786600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:71786400-71786600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:71786400-71786600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:71786400-71786600	Enhancers	Aorta	Aorta
49	chr14:71786400-71786600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr14:71786400-71786600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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