Variant report

Variant	nsv537915
Chromosome Location	chr5:146066000-146788233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5253)
CpG islands
(count:5191)
Chromatin interactive
region (count:75)
LncRNA
region (count:32)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5253 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:146477848-146478079	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:146547140-146547823	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:146555002-146556424	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:146345631-146346019	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:146147080-146147473	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:146520206-146520486	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:146324767-146325241	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:146550116-146550656	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:146548066-146549867	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:146326819-146327089	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:146568357-146568733	HepG2	liver:	n/a	chr5:146568685-146568701
12	ARID3A	chr5:146227727-146228037	HepG2	liver:	n/a	n/a
13	ATF2	chr5:146768376-146769168	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:146786677-146787013	GM12878	blood:	n/a	n/a
15	ATF2	chr5:146783774-146784280	GM12878	blood:	n/a	n/a
16	ATF2	chr5:146168417-146168920	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr5:146786620-146787025	GM12878	blood:	n/a	n/a
18	ATF2	chr5:146767776-146768247	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr5:146286405-146286750	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr5:146168446-146168856	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr5:146783722-146784295	GM12878	blood:	n/a	n/a
22	ATF3	chr5:146342413-146342765	K562	blood:	n/a	n/a
23	ATF3	chr5:146326845-146327081	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr5:146326776-146327073	GM12878	blood:	n/a	n/a
25	ATF3	chr5:146342303-146342877	HCT-116	colon:	n/a	n/a
26	ATF3	chr5:146342293-146342782	HCT-116	colon:	n/a	n/a
27	ATF3	chr5:146326833-146327003	GM12878	blood:	n/a	n/a
28	ATF3	chr5:146111488-146111911	HCT-116	colon:	n/a	n/a
29	ATF3	chr5:146326827-146327050	K562	blood:	n/a	n/a
30	BACH1	chr5:146257373-146257877	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr5:146111260-146111859	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr5:146184750-146185034	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr5:146169425-146170096	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr5:146435481-146435711	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr5:146342522-146342660	H1-hESC	embryonic stem cell:	n/a	chr5:146342565-146342579
36	BACH1	chr5:146613394-146613412	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr5:146345545-146345939	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr5:146269514-146269549	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr5:146614489-146614660	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr5:146689693-146690393	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr5:146258134-146258559	H1-hESC	embryonic stem cell:	n/a	n/a
42	BATF	chr5:146783913-146784143	GM12878	blood:	n/a	chr5:146784031-146784042
43	BATF	chr5:146783780-146784212	GM12878	blood:	n/a	chr5:146784031-146784042
44	BCL11A	chr5:146783848-146784169	GM12878	blood:	n/a	n/a
45	BCL11A	chr5:146783802-146784297	GM12878	blood:	n/a	n/a
46	BCL11A	chr5:146196642-146196890	H1-hESC	embryonic stem cell:	n/a	chr5:146196871-146196880
47	BCL11A	chr5:146168481-146168797	H1-hESC	embryonic stem cell:	n/a	n/a
48	BCL11A	chr5:146168544-146168833	H1-hESC	embryonic stem cell:	n/a	n/a
49	BCL3	chr5:146715230-146715538	GM12878	blood:	n/a	chr5:146715427-146715436
50	BCLAF1	chr5:146783860-146784236	GM12878	blood:	n/a	n/a

(count:5191 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:146258427-146258477	NHDF-neo	bronchial:	n/a
2	chr5:146086139-146086189	GM12892	blood:	n/a
3	chr5:146259944-146259994	HUVEC	blood vessel:	n/a
4	chr5:146251545-146251595	T-47D	breast:	n/a
5	chr5:146610725-146610775	SKMC	muscle:	n/a
6	chr5:146716604-146716654	HL-60	blood:	n/a
7	chr5:146258427-146258477	NHDF-neo	bronchial:	n/a
8	chr5:146086139-146086189	GM12892	blood:	n/a
9	chr5:146259944-146259994	HUVEC	blood vessel:	n/a
10	chr5:146251545-146251595	T-47D	breast:	n/a
11	chr5:146610725-146610775	SKMC	muscle:	n/a
12	chr5:146716604-146716654	HL-60	blood:	n/a
13	chr5:146268595-146268645	BJ	skin:	n/a
14	chr5:146258785-146258835	GM19239	blood:	n/a
15	chr5:146614393-146614443	SK-N-MC	brain:	n/a
16	chr5:146258195-146258245	NH-A	brain:	n/a
17	chr5:146461855-146461905	AG09309	skin:	n/a
18	chr5:146460987-146461037	GM06990	blood:	n/a
19	chr5:146207271-146207321	GM12891	blood:	n/a
20	chr5:146256776-146256826	HRCEpiC	kidney:	n/a
21	chr5:146257484-146257534	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:146613976-146614026	AG09319	gingival:	n/a
23	chr5:146613976-146614026	HCM	heart:	n/a
24	chr5:146771456-146771506	NHDF-neo	bronchial:	n/a
25	chr5:146258427-146258477	K562	blood:	n/a
26	chr5:146257484-146257534	GM19239	blood:	n/a
27	chr5:146258237-146258287	HCT-116	colon:	n/a
28	chr5:146259944-146259994	PANC-1	pancreas:	n/a
29	chr5:146614404-146614454	HCF	heart:	n/a
30	chr5:146613537-146613587	NHBE	bronchial:	n/a
31	chr5:146258354-146258404	GM12878	blood:	n/a
32	chr5:146170027-146170077	Hela-S3	cervix:	n/a
33	chr5:146260901-146260951	PFSK-1	brain:	n/a
34	chr5:146333034-146333084	HCM	heart:	n/a
35	chr5:146258512-146258562	HMEC	breast:	n/a
36	chr5:146258546-146258596	ProgFib	skin:	n/a
37	chr5:146260901-146260951	AG10803	skin:	n/a
38	chr5:146258615-146258665	SK-N-SH_RA	brain:	n/a
39	chr5:146728376-146728426	HepG2	liver:	n/a
40	chr5:146472905-146472955	PFSK-1	brain:	n/a
41	chr5:146258195-146258245	HNPCEpiC	eye:	n/a
42	chr5:146784171-146784221	AG04449	skin:	fetal
43	chr5:146435656-146435706	NHDF-neo	bronchial:	n/a
44	chr5:146460987-146461037	T-47D	breast:	n/a
45	chr5:146461785-146461835	IMR90	lung:	fetal
46	chr5:146614543-146614593	SK-N-SH_RA	brain:	n/a
47	chr5:146619708-146619758	HL-60	blood:	n/a
48	chr5:146215577-146215627	AG09319	gingival:	n/a
49	chr5:146257862-146257912	Hela-S3	cervix:	n/a
50	chr5:146268595-146268645	NHBE	bronchial:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:146534524..146536364-chr5:146537043..146540039,2	MCF-7	breast:
2	chr5:146089796..146091609-chr5:146109089..146112003,2	K562	blood:
3	chr5:146089796..146091609-chr5:146109089..146112003,2	K562	blood:
4	chr3:73158622..73161459-chr5:146586113..146589111,3	K562	blood:
5	chr5:146777402..146779384-chr5:146780216..146783156,2	MCF-7	breast:
6	chr10:47113439..47114383-chr5:146149031..146149825,2	MCF-7	breast:
7	chr5:146549683..146552559-chr5:146554968..146556867,2	K562	blood:
8	chr5:145915960..145916943-chr5:146345407..146345922,2	K562	blood:
9	chr5:146568205..146568960-chr5:146749299..146749902,2	MCF-7	breast:
10	chr5:146259250..146260919-chr5:146265492..146267805,2	K562	blood:
11	chr5:145824747..145826488-chr5:146322323..146325173,2	K562	blood:
12	chr5:146617599..146619376-chr5:146621089..146623393,2	K562	blood:
13	chr5:146234387..146236535-chr5:146240774..146243062,2	MCF-7	breast:
14	chr5:96697302..96697824-chr5:146587593..146588113,2	Hela-S3	cervix:
15	chr5:146534524..146536364-chr5:146537043..146540039,2	MCF-7	breast:
16	chr5:146603398..146604452-chr5:146749036..146750018,10	MCF-7	breast:
17	chr5:146253334..146255798-chr5:146258510..146260454,2	K562	blood:
18	chr5:146603705..146604248-chr5:146749231..146749768,2	MCF-7	breast:
19	chr5:145921624..145922229-chr5:146568098..146568618,2	MCF-7	breast:
20	chr5:146234387..146236535-chr5:146240774..146243062,2	MCF-7	breast:
21	chr5:145912596..145913873-chr5:146567850..146569044,5	MCF-7	breast:
22	chr5:146603398..146604452-chr5:146749036..146750018,10	MCF-7	breast:
23	chr5:146617599..146619376-chr5:146621089..146623393,2	K562	blood:
24	chr5:146242971..146245243-chr5:146246031..146248907,3	MCF-7	breast:
25	chr5:146603705..146604248-chr5:146749231..146749768,2	MCF-7	breast:
26	chr1:17231434..17232256-chr5:146420463..146421464,6	HCT-116	colon:
27	chr5:146041750..146042359-chr5:146345292..146346236,3	MCF-7	breast:
28	chr17:41399092..41401779-chr5:146586093..146589111,4	K562	blood:
29	chr5:145921892..145922451-chr5:146345360..146346023,3	MCF-7	breast:
30	chr5:146322237..146323918-chr5:146326064..146328464,2	K562	blood:
31	chr5:146425661..146427205-chr5:146540859..146542911,2	K562	blood:
32	chr11:62607622..62609195-chr5:146586111..146587613,2	K562	blood:
33	chr5:146209123..146211118-chr5:146212830..146214990,2	K562	blood:
34	chr5:146603532..146604750-chr5:146956351..146957631,4	MCF-7	breast:
35	chr17:41399178..41400774-chr5:146587592..146589093,2	K562	blood:
36	chr5:145945085..145945782-chr5:146326494..146327220,2	MCF-7	breast:
37	chr5:146034338..146036323-chr5:146377673..146380571,2	K562	blood:
38	chr5:146110727..146113156-chr5:146255161..146256796,2	MCF-7	breast:
39	chr5:146777823..146779953-chr5:146786384..146788173,2	K562	blood:
40	chr5:146549683..146552559-chr5:146554968..146556867,2	K562	blood:
41	chr5:146777823..146779953-chr5:146786384..146788173,2	K562	blood:
42	chr5:146001670..146002234-chr5:146345320..146346041,2	MCF-7	breast:
43	chr5:146256982..146258817-chr5:146261957..146264788,2	MCF-7	breast:
44	chr5:146425661..146427205-chr5:146540859..146542911,2	K562	blood:
45	chr5:146322237..146323918-chr5:146326064..146328464,2	K562	blood:
46	chr5:146603458..146604470-chr5:146771097..146772024,5	MCF-7	breast:
47	chr5:146438427..146440767-chr5:146443761..146445468,2	K562	blood:
48	chr11:83972477..83973322-chr5:146771153..146772129,2	MCF-7	breast:
49	chr5:146568205..146568960-chr5:146749299..146749902,2	MCF-7	breast:
50	chr15:89633613..89634450-chr5:146710286..146711048,2	MCF-7	breast:

(count:32 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R2B-2	chr5:146581540-146581714	XLOC_005047
2	lnc-PPP2R2B-2	chr5:146589759-146589780	XLOC_005047
3	lnc-PPP2R2B-2	chr5:146559767-146560307	XLOC_005047
4	lnc-GPR151-4	chr5:146464146-146464347	NONHSAT104414
5	lnc-PPP2R2B-2	chr5:146559955-146560307	XLOC_005047
6	lnc-SCGB3A2-3	chr5:146763938-146764009	NONHSAT104425
7	lnc-GPR151-4	chr5:146130785-146131133	NONHSAT104416
8	lnc-SCGB3A2-3	chr5:146763453-146763517	NONHSAT104425
9	lnc-SCGB3A2-3	chr5:146763938-146764306	NONHSAT104424
10	lnc-PPP2R2B-2	chr5:146576307-146576398	NONHSAT104421
11	lnc-PPP2R2B-2	chr5:146614276-146614422	XLOC_005047
12	lnc-SCGB3A2-5	chr5:146619102-146619722	NONHSAT104422
13	lnc-GPR151-4	chr5:146301888-146302085	NONHSAT104416
14	lnc-SCGB3A2-3	chr5:146762912-146763068	NONHSAT104425
15	lnc-GPR151-4	chr5:146257565-146257758	NONHSAT104414
16	lnc-GPR151-4	chr5:146301888-146302090	NONHSAT104413
17	lnc-GPR151-4	chr5:146080608-146080705	NONHSAT104413
18	lnc-PPP2R2B-1	chr5:146556614-146557052	XLOC_005046
19	lnc-GPR151-4	chr5:146080649-146080705	NONHSAT104414
20	lnc-PPP2R2B-2	chr5:146581540-146581981	NONHSAT104421
21	lnc-GPR151-4	chr5:146299247-146299405	NONHSAT104413
22	lnc-GPR151-2	chr5:146298955-146299069	ENSG00000249553.1
23	lnc-GPR151-2	chr5:146297937-146297951	ENSG00000249553.1
24	lnc-SCGB3A2-5	chr5:146614618-146614762	NONHSAT104422
25	lnc-PPP2R2B-1	chr5:146559474-146559486	XLOC_005046
26	lnc-SCGB3A2-3	chr5:146762893-146763068	NONHSAT104424
27	lnc-STK32A-2	chr5:146781323-146781559	ENSG00000272239.1
28	lnc-GPR151-2	chr5:146293770-146293997	ENSG00000249553.1
29	lnc-GPR151-2	chr5:146297386-146297474	ENSG00000249553.1
30	lnc-PPP2R2B-2	chr5:146581540-146581714	XLOC_005047
31	lnc-GPR151-4	chr5:146077624-146077707	NONHSAT104413
32	lnc-GPR151-4	chr5:146460622-146460699	NONHSAT104414

No data

Variant related genes	Relation type
ENSG00000250343	TF binding region
ENSG00000265875	TF binding region
ENSG00000272239	TF binding region
PPP2R2B	TF binding region
STK32A	TF binding region
DPYSL3	TF binding region
KRT8P48	TF binding region
PPP2R2B-IT1	TF binding region
ENSG00000250343	CpG island
ENSG00000265875	CpG island
ENSG00000272239	CpG island
PPP2R2B	CpG island
STK32A	CpG island
DPYSL3	CpG island
KRT8P48	CpG island
PPP2R2B-IT1	CpG island
ENSG00000223247	chromatin interactions
ENSG00000249553	chromatin interactions
ENSG00000272239	chromatin interactions
ENSG00000143368	chromatin interactions
ENSG00000241291	chromatin interactions
ENSG00000156475	chromatin interactions
ENSG00000113657	chromatin interactions
ENSG00000236248	chromatin interactions
ENSG00000133316	chromatin interactions
TCF12	miRNA target sites
TRIM24	miRNA target sites

Extended variants
information (count: 26244 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:26244 , 50 per page) page: 1 2 3 4 5 6 7 ... 525

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530736779	chr5:146066015-146066016	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550829946	chr5:146066038-146066039	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74912536	chr5:146066081-146066082	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539410120	chr5:146066082-146066083	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553152937	chr5:146066098-146066099	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377210905	chr5:146066111-146066112	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558374843	chr5:146066163-146066164	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535505529	chr5:146066170-146066171	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185930771	chr5:146066171-146066172	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578102221	chr5:146066178-146066179	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61468966	chr5:146066182-146066183	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66563987	chr5:146066183-146066184	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574945958	chr5:146066186-146066187	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79700388	chr5:146066187-146066188	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397969628	chr5:146066188-146066189	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56866551	chr5:146066189-146066190	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543784412	chr5:146066192-146066193	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557615565	chr5:146066193-146066194	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577206259	chr5:146066197-146066198	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559120272	chr5:146066206-146066207	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545788814	chr5:146066224-146066225	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59645635	chr5:146066258-146066259	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573011087	chr5:146066261-146066262	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369716922	chr5:146066277-146066278	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148045378	chr5:146066281-146066282	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372853359	chr5:146066291-146066292	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141673303	chr5:146066297-146066298	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76465341	chr5:146066309-146066310	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13185140	chr5:146066325-146066326	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77122994	chr5:146066344-146066345	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533216857	chr5:146066372-146066373	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376516675	chr5:146066382-146066383	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370604729	chr5:146066391-146066392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545211300	chr5:146066400-146066401	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11167942	chr5:146066417-146066418	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535564061	chr5:146066486-146066487	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549038545	chr5:146066487-146066488	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190644252	chr5:146066516-146066517	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537640725	chr5:146066542-146066543	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530640813	chr5:146066571-146066572	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372048538	chr5:146066585-146066586	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11167943	chr5:146066586-146066587	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373341259	chr5:146066588-146066589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183192468	chr5:146066590-146066591	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78319083	chr5:146066606-146066607	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60057388	chr5:146066615-146066616	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs79733318	chr5:146066621-146066622	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539703788	chr5:146066622-146066623	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76011640	chr5:146066638-146066639	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71594539	chr5:146066651-146066652	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:5691 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146047800-146069000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:146052000-146066000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:146052200-146069400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:146052200-146078400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:146055200-146070000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:146060400-146078200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:146061600-146067000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:146061600-146069200	Weak transcription	Aorta	Aorta
9	chr5:146062000-146077000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:146064200-146068000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:146064200-146070200	Weak transcription	Brain Germinal Matrix	brain
12	chr5:146064200-146071000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:146064200-146078200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:146064800-146067600	Weak transcription	Brain Anterior Caudate	brain
15	chr5:146064800-146075000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr5:146065000-146066400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:146065000-146073400	Weak transcription	Fetal Brain Female	brain
18	chr5:146065200-146068000	Weak transcription	Brain Angular Gyrus	brain
19	chr5:146065400-146067800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:146065800-146068000	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:146066000-146067000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:146066400-146066600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:146066400-146066600	Enhancers	Placenta	Placenta
24	chr5:146066400-146078000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:146066600-146073600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:146066800-146079000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:146067000-146067200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:146067000-146067800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:146067600-146067800	Enhancers	Brain Anterior Caudate	brain
30	chr5:146067600-146069400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:146067600-146071000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:146067800-146068200	Enhancers	Brain Substantia Nigra	brain
33	chr5:146067800-146068400	Genic enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:146067800-146069400	Genic enhancers	Brain Anterior Caudate	brain
35	chr5:146067800-146078800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:146068000-146068200	Enhancers	Brain Angular Gyrus	brain
37	chr5:146068000-146068400	Genic enhancers	Brain Cingulate Gyrus	brain
38	chr5:146068000-146068600	Enhancers	Brain Hippocampus Middle	brain
39	chr5:146068200-146068800	Weak transcription	Brain Angular Gyrus	brain
40	chr5:146068200-146068800	Weak transcription	Brain Substantia Nigra	brain
41	chr5:146068200-146070000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:146068200-146070800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:146068400-146070400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:146068400-146070800	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr5:146068600-146069000	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:146068800-146069200	Enhancers	Brain Angular Gyrus	brain
47	chr5:146068800-146069200	Genic enhancers	Brain Substantia Nigra	brain
48	chr5:146068800-146080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:146069000-146071000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:146069000-146071000	Genic enhancers	Brain Hippocampus Middle	brain

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