Variant report

Variant	nsv1038007
Chromosome Location	chr14:71269747-71667680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5976)
CpG islands
(count:3419)
Chromatin interactive
region (count:191)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5976 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:71373929-71374421	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:71351840-71352115	K562	blood:	n/a	n/a
3	ARID3A	chr14:71583321-71583963	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:71340419-71340591	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:71276464-71276848	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:71375376-71375583	HepG2	liver:	n/a	n/a
7	ARID3A	chr14:71361461-71362018	HepG2	liver:	n/a	n/a
8	ARID3A	chr14:71439131-71439396	HepG2	liver:	n/a	n/a
9	ARID3A	chr14:71610207-71610661	HepG2	liver:	n/a	n/a
10	ARID3A	chr14:71284372-71284814	HepG2	liver:	n/a	n/a
11	ARID3A	chr14:71596906-71597822	K562	blood:	n/a	n/a
12	ARID3A	chr14:71453850-71454159	K562	blood:	n/a	n/a
13	ARID3A	chr14:71284443-71284772	K562	blood:	n/a	n/a
14	ARID3A	chr14:71584599-71585049	HepG2	liver:	n/a	n/a
15	ATF1	chr14:71353461-71353701	K562	blood:	n/a	n/a
16	ATF1	chr14:71609002-71609339	K562	blood:	n/a	n/a
17	ATF1	chr14:71610189-71610768	K562	blood:	n/a	n/a
18	ATF1	chr14:71351546-71352024	K562	blood:	n/a	n/a
19	ATF1	chr14:71284404-71284743	K562	blood:	n/a	n/a
20	ATF1	chr14:71597363-71597860	K562	blood:	n/a	n/a
21	ATF1	chr14:71349878-71350140	K562	blood:	n/a	n/a
22	ATF1	chr14:71455163-71455464	K562	blood:	n/a	n/a
23	ATF2	chr14:71284315-71284822	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr14:71284376-71284776	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr14:71353081-71354548	GM12878	blood:	n/a	n/a
26	ATF2	chr14:71349705-71350296	GM12878	blood:	n/a	n/a
27	ATF2	chr14:71360585-71361103	GM12878	blood:	n/a	n/a
28	ATF2	chr14:71269885-71270492	GM12878	blood:	n/a	n/a
29	ATF2	chr14:71349760-71350288	GM12878	blood:	n/a	n/a
30	ATF2	chr14:71276357-71276899	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr14:71284266-71284837	GM12878	blood:	n/a	n/a
32	ATF2	chr14:71353074-71354442	GM12878	blood:	n/a	n/a
33	ATF2	chr14:71284309-71284784	GM12878	blood:	n/a	n/a
34	ATF2	chr14:71348210-71348994	GM12878	blood:	n/a	n/a
35	ATF2	chr14:71269918-71270409	GM12878	blood:	n/a	n/a
36	ATF2	chr14:71348200-71349213	GM12878	blood:	n/a	n/a
37	ATF3	chr14:71610318-71610639	K562	blood:	n/a	n/a
38	ATF3	chr14:71488349-71488985	HCT-116	colon:	n/a	n/a
39	ATF3	chr14:71648413-71648601	K562	blood:	n/a	n/a
40	ATF3	chr14:71373936-71374105	K562	blood:	n/a	n/a
41	ATF3	chr14:71462500-71462644	K562	blood:	n/a	n/a
42	ATF3	chr14:71315650-71315906	K562	blood:	n/a	n/a
43	BACH1	chr14:71374691-71375583	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr14:71288671-71289319	H1-hESC	embryonic stem cell:	n/a	n/a
45	BATF	chr14:71353839-71354389	GM12878	blood:	n/a	n/a
46	BATF	chr14:71360476-71361068	GM12878	blood:	n/a	n/a
47	BATF	chr14:71348457-71348812	GM12878	blood:	n/a	n/a
48	BATF	chr14:71348519-71349009	GM12878	blood:	n/a	n/a
49	BATF	chr14:71351186-71351547	GM12878	blood:	n/a	chr14:71351366-71351377
50	BATF	chr14:71351145-71351609	GM12878	blood:	n/a	chr14:71351366-71351377

(count:3419 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:71372869-71372919	SK-N-SH	brain:	n/a
2	chr14:71374612-71374662	RPTEC	kidney:	n/a
3	chr14:71609158-71609208	NB4	blood:	n/a
4	chr14:71372869-71372919	SK-N-SH	brain:	n/a
5	chr14:71374612-71374662	RPTEC	kidney:	n/a
6	chr14:71609158-71609208	NB4	blood:	n/a
7	chr14:71577479-71577529	NH-A	brain:	n/a
8	chr14:71279803-71279853	HEEpiC	esophagus:	n/a
9	chr14:71288541-71288591	SK-N-MC	brain:	n/a
10	chr14:71289843-71289893	MCF10A-Er-Src	breast:	n/a
11	chr14:71632612-71632662	ovcar-3	ovarian:	n/a
12	chr14:71353208-71353258	AG09319	gingival:	n/a
13	chr14:71370423-71370473	PrEC	prostate:	n/a
14	chr14:71272941-71272991	AG04450	lung:	fetal
15	chr14:71288210-71288260	SKMC	muscle:	n/a
16	chr14:71609158-71609208	GM12892	blood:	n/a
17	chr14:71272941-71272991	PANC-1	pancreas:	n/a
18	chr14:71527576-71527626	H1-hESC	embryonic stem cell:	embryo
19	chr14:71284925-71284975	SKMC	muscle:	n/a
20	chr14:71291951-71292001	LNCaP	prostate:	n/a
21	chr14:71373978-71374028	AG09309	skin:	n/a
22	chr14:71585510-71585560	PrEC	prostate:	n/a
23	chr14:71374784-71374834	SAEC	small airway:	n/a
24	chr14:71272941-71272991	Hela-S3	cervix:	n/a
25	chr14:71585510-71585560	SK-N-SH_RA	brain:	n/a
26	chr14:71373980-71374030	HRPEpiC	eye:	n/a
27	chr14:71606506-71606556	IMR90	lung:	fetal
28	chr14:71527576-71527626	NB4	blood:	n/a
29	chr14:71373978-71374028	Jurkat	blood:	n/a
30	chr14:71284925-71284975	HCPEpiC	choroid plexus:	n/a
31	chr14:71632612-71632662	HepG2	liver:	n/a
32	chr14:71373888-71373938	HEEpiC	esophagus:	n/a
33	chr14:71374302-71374352	NHBE	bronchial:	n/a
34	chr14:71527576-71527626	HEEpiC	esophagus:	n/a
35	chr14:71635288-71635338	HRCEpiC	kidney:	n/a
36	chr14:71272941-71272991	PrEC	prostate:	n/a
37	chr14:71275530-71275580	PrEC	prostate:	n/a
38	chr14:71377000-71377050	SK-N-MC	brain:	n/a
39	chr14:71291951-71292001	NH-A	brain:	n/a
40	chr14:71606274-71606324	MCF-7	breast:	n/a
41	chr14:71375319-71375369	H1-hESC	embryonic stem cell:	embryo
42	chr14:71275942-71275992	NHBE	bronchial:	n/a
43	chr14:71289843-71289893	AG04450	lung:	fetal
44	chr14:71598219-71598269	HNPCEpiC	eye:	n/a
45	chr14:71276874-71276924	HEEpiC	esophagus:	n/a
46	chr14:71289522-71289572	GM12891	blood:	n/a
47	chr14:71290144-71290194	AG10803	skin:	n/a
48	chr14:71598219-71598269	SK-N-SH_RA	brain:	n/a
49	chr14:71291951-71292001	GM12891	blood:	n/a
50	chr14:71377000-71377050	NHDF-neo	bronchial:	n/a

(count:191 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr14:71315330..71318187-chr14:71353000..71355911,2	K562	blood:
2	chr14:71284164..71285160-chr14:71438670..71439594,2	MCF-7	breast:
3	chr14:71287022..71288979-chr14:71420720..71423622,2	MCF-7	breast:
4	chr14:71643231..71645889-chr14:72138458..72140517,2	MCF-7	breast:
5	chr14:71386633..71388150-chr14:71388348..71391134,2	MCF-7	breast:
6	chr14:71605408..71606120-chr14:72322432..72323318,2	K562	blood:
7	chr14:71284164..71285160-chr14:71438670..71439594,2	MCF-7	breast:
8	chr14:71376408..71378571-chr14:71380621..71383425,3	MCF-7	breast:
9	chr14:71287734..71288653-chr14:71422559..71423263,2	MCF-7	breast:
10	chr14:71278240..71280155-chr14:71283242..71284807,2	MCF-7	breast:
11	chr14:71568448..71570902-chr14:71575240..71577944,2	MCF-7	breast:
12	chr14:71472106..71474140-chr14:71476821..71478999,2	K562	blood:
13	chr14:71373975..71375521-chr14:71375860..71378276,2	MCF-7	breast:
14	chr14:71372925..71376620-chr14:71377787..71383660,12	MCF-7	breast:
15	chr14:71367722..71371068-chr14:71372863..71375706,4	MCF-7	breast:
16	chr14:71582880..71584385-chr14:71586431..71588999,2	MCF-7	breast:
17	chr14:71629289..71631183-chr14:71936634..71939360,2	MCF-7	breast:
18	chr14:71374157..71374728-chr2:38603975..38604567,2	Hela-S3	cervix:
19	chr14:71373112..71375503-chr14:71384629..71386969,3	MCF-7	breast:
20	chr14:71288709..71289703-chr6:3118761..3119431,2	NB4	blood:
21	chr14:71362265..71365941-chr14:71372682..71376130,7	MCF-7	breast:
22	chr14:71570776..71571452-chr14:72219467..72220345,2	MCF-7	breast:
23	chr14:71536680..71538584-chr14:71630559..71632306,2	MCF-7	breast:
24	chr14:71276294..71278299-chr14:71400053..71402975,2	MCF-7	breast:
25	chr14:71605416..71606618-chr14:72219460..72220340,5	MCF-7	breast:
26	chr14:71223792..71224650-chr14:71284153..71284837,2	MCF-7	breast:
27	chr14:71570510..71571060-chr14:71673984..71674688,2	K562	blood:
28	chr14:71292909..71294702-chr14:71295951..71297910,2	MCF-7	breast:
29	chr14:71279107..71280660-chr14:71285570..71287835,2	MCF-7	breast:
30	chr14:71379419..71381346-chr14:71385671..71388258,2	MCF-7	breast:
31	chr14:71632877..71633633-chr14:71789090..71789926,3	MCF-7	breast:
32	chr14:71102508..71105172-chr14:71277207..71278775,2	MCF-7	breast:
33	chr14:71275505..71276425-chr14:71284337..71285007,2	MCF-7	breast:
34	chr14:71106760..71110006-chr14:71274602..71279359,4	MCF-7	breast:
35	chr14:71373536..71374504-chr14:71422306..71423404,6	MCF-7	breast:
36	chr14:71372532..71376222-chr14:71415679..71419226,4	MCF-7	breast:
37	chr14:71630664..71636301-chr14:71785635..71788811,7	MCF-7	breast:
38	chr14:71088364..71089507-chr14:71284063..71285157,11	MCF-7	breast:
39	chr14:71423548..71425055-chr14:71436128..71438876,2	MCF-7	breast:
40	chr14:71299359..71302044-chr14:71302641..71304763,2	MCF-7	breast:
41	chr14:71487547..71489766-chr14:72170994..72172928,2	MCF-7	breast:
42	chr14:71362952..71365427-chr14:71368027..71370762,2	MCF-7	breast:
43	chr14:71107053..71109506-chr14:71274783..71276528,2	MCF-7	breast:
44	chr14:71355468..71357237-chr14:71359840..71362416,2	MCF-7	breast:
45	chr14:71283754..71285089-chr14:71421790..71423652,9	MCF-7	breast:
46	chr14:71278091..71280496-chr14:71292784..71294745,2	MCF-7	breast:
47	chr14:71297374..71298989-chr14:71299419..71302162,2	MCF-7	breast:
48	chr14:71640952..71644715-chr14:71785827..71788552,4	MCF-7	breast:
49	chr14:71359505..71362289-chr14:71363900..71365887,4	MCF-7	breast:
50	chr14:71536680..71538584-chr14:71630559..71632306,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIPA1L1-5	chr14:71581486-71582098	NONHSAT037606
2	lnc-PCNX-4	chr14:71290537-71290888	NONHSAT037594
3	lnc-MAP3K9-10	chr14:71607842-71609970	ENSG00000269927.1
4	lnc-MAP3K9-9	chr14:71552199-71552550	NONHSAT037605
5	lnc-MAP3K9-5	chr14:71339077-71339304	NONHSAT037596
6	lnc-PCNX-1	chr14:71648173-71648823	ENSG00000259907.1
7	lnc-PCNX-2	chr14:71277047-71277382	ENSG00000259153.1
8	lnc-PCNX-2	chr14:71276612-71277382	NONHSAT037591
9	lnc-MAP3K9-8	chr14:71511092-71511357	NONHSAT037604
10	lnc-PCNX-4	chr14:71288641-71288839	NONHSAT037594
11	lnc-PCNX-1	chr14:71648069-71648822	NONHSAT037608
12	lnc-MAP3K9-7	chr14:71498403-71498687	NONHSAT037603
13	lnc-PCNX-2	chr14:71281828-71282120	ENSG00000259153.1
14	lnc-PCNX-1	chr14:71647678-71647919	NONHSAT037608
15	lnc-PCNX-2	chr14:71276922-71277008	ENSG00000259153.1
16	lnc-MAP3K9-5	chr14:71337707-71338125	FPKM1_group_9264_transcript_1
17	lnc-MAP3K9-4	chr14:71325561-71326146	NONHSAT037595
18	lnc-PCNX-2	chr14:71281828-71282108	ENSG00000259153.1
19	lnc-PCNX-2	chr14:71281828-71283587	NONHSAT037592
20	lnc-MAP3K9-6	chr14:71425183-71425396	NONHSAT037599
21	lnc-MAP3K9-1	chr14:71647679-71647919	XLOC_011063
22	lnc-MAP3K9-1	chr14:71648070-71648822	XLOC_011063
23	lnc-PCNX-2	chr14:71281828-71282021	NONHSAT037591
24	lnc-MAP3K9-5	chr14:71337844-71338071	FPKM1_group_9264_transcript_1
25	lnc-MAP3K9-5	chr14:71337707-71338125	NONHSAT037596
26	lnc-PCNX-2	chr14:71276648-71277391	NONHSAT037592
27	lnc-MAP3K9-6	chr14:71416315-71416475	NONHSAT037599

No data

Variant related genes	Relation type
ENSG00000258431	TF binding region
ENSG00000269927	TF binding region
ENSG00000259153	TF binding region
PCNX	TF binding region
ENSG00000258930	TF binding region
MAP3K9	TF binding region
ENSG00000259907	TF binding region
PTTG4P	TF binding region
ENSG00000258966	TF binding region
ENSG00000258431	CpG island
ENSG00000269927	CpG island
ENSG00000259153	CpG island
PCNX	CpG island
ENSG00000258930	CpG island
MAP3K9	CpG island
ENSG00000259907	CpG island
PTTG4P	CpG island
ENSG00000258966	CpG island
ENSG00000259146	chromatin interactions
ENSG00000137274	chromatin interactions
ENSG00000119787	chromatin interactions
ENSG00000259907	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000259115	chromatin interactions
ENSG00000258951	chromatin interactions
ENSG00000266411	chromatin interactions
ENSG00000240837	chromatin interactions
ENSG00000197555	chromatin interactions
ENSG00000131773	chromatin interactions
ENSG00000245466	chromatin interactions
ENSG00000080815	chromatin interactions
ENSG00000187742	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000259153	chromatin interactions
ENSG00000133985	chromatin interactions
ENSG00000006432	chromatin interactions
ENSG00000100731	chromatin interactions
ENSG00000258930	chromatin interactions
ENSG00000063046	chromatin interactions

Extended variants
information (count: 15196 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:15196 , 50 per page) page: 1 2 3 4 5 6 7 ... 304

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74408905	chr14:71269761-71269762	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs538205930	chr14:71269828-71269829	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550284623	chr14:71269830-71269831	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568579796	chr14:71269835-71269836	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535928434	chr14:71269865-71269866	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117297263	chr14:71269866-71269867	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572952500	chr14:71269907-71269908	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185071187	chr14:71269937-71269938	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145257772	chr14:71269938-71269939	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576566943	chr14:71269980-71269981	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs578074007	chr14:71269990-71269991	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369048142	chr14:71270002-71270003	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545390470	chr14:71270022-71270023	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370527675	chr14:71270032-71270033	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77859663	chr14:71270054-71270055	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569690559	chr14:71270055-71270056	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563787049	chr14:71270066-71270067	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10583563	chr14:71270078-71270079	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575840248	chr14:71270115-71270116	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112757371	chr14:71270134-71270135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76480795	chr14:71270135-71270136	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371315303	chr14:71270146-71270147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77204323	chr14:71270147-71270148	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562219780	chr14:71270149-71270150	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373912298	chr14:71270163-71270164	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201771932	chr14:71270189-71270190	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374585105	chr14:71270197-71270198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574166151	chr14:71270209-71270210	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56118474	chr14:71270226-71270227	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543118932	chr14:71270239-71270240	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561575623	chr14:71270249-71270250	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61398805	chr14:71270262-71270263	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528667980	chr14:71270331-71270332	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547279995	chr14:71270350-71270351	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189402478	chr14:71270384-71270385	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531996930	chr14:71270417-71270418	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550196705	chr14:71270468-71270469	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568492022	chr14:71270488-71270489	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117770018	chr14:71270491-71270492	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76342619	chr14:71270503-71270504	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566669987	chr14:71270536-71270537	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142405274	chr14:71270553-71270554	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180970512	chr14:71270577-71270578	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558834149	chr14:71270598-71270599	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199645683	chr14:71270604-71270605	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570722621	chr14:71270619-71270620	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538120552	chr14:71270680-71270681	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs115817979	chr14:71270691-71270692	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs76945713	chr14:71270707-71270708	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114400722	chr14:71270731-71270732	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10534 , 50 per page) page: 1 2 3 4 5 6 7 ... 211

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
2	chr14:71247800-71274600	Weak transcription	Stomach Mucosa	stomach
3	chr14:71248200-71271200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:71249400-71274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:71249400-71274400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:71249400-71274600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:71249600-71274600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:71249800-71274600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:71257200-71274600	Weak transcription	Brain Anterior Caudate	brain
10	chr14:71257200-71274600	Weak transcription	Spleen	Spleen
11	chr14:71257800-71274800	Weak transcription	Colonic Mucosa	Colon
12	chr14:71259000-71274600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:71260000-71274800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:71261200-71270400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:71261200-71270600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:71261200-71271400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:71261200-71274600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:71261600-71272000	Weak transcription	Fetal Stomach	stomach
19	chr14:71265000-71274600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:71265200-71274600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr14:71265800-71274600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:71267400-71274600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:71267600-71270600	Weak transcription	Primary T cells from cord blood	blood
24	chr14:71267600-71272400	Weak transcription	Fetal Intestine Large	intestine
25	chr14:71267600-71272800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:71267600-71274400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:71267600-71274400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr14:71267600-71274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:71267600-71274600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:71267600-71274600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:71267600-71274600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:71267600-71274600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:71267600-71274600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:71267800-71270200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:71267800-71270400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:71267800-71270600	Weak transcription	Liver	Liver
37	chr14:71267800-71271200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:71267800-71271600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:71267800-71273800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:71267800-71274400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:71267800-71274400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:71267800-71274400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:71267800-71274400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:71267800-71274400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:71267800-71274400	Weak transcription	Brain Germinal Matrix	brain
46	chr14:71267800-71274400	Weak transcription	Fetal Brain Female	brain
47	chr14:71267800-71274400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:71267800-71274400	Weak transcription	Dnd41	blood
49	chr14:71267800-71274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:71267800-71274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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