Variant report

Variant	esv1835614
Chromosome Location	chr5:43515280-43561759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1665)
CpG islands
(count:1283)
Chromatin interactive
region (count:177)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:1665 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:43557047-43557889	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:43514295-43515932	K562	blood:	n/a	chr5:43514619-43514635
3	ARID3A	chr5:43557062-43557257	K562	blood:	n/a	n/a
4	ARID3A	chr5:43514994-43515478	HepG2	liver:	n/a	n/a
5	ATF1	chr5:43514703-43515471	K562	blood:	n/a	n/a
6	ATF2	chr5:43556120-43556746	GM12878	blood:	n/a	n/a
7	ATF2	chr5:43514540-43515425	GM12878	blood:	n/a	n/a
8	ATF2	chr5:43556806-43557303	GM12878	blood:	n/a	n/a
9	ATF2	chr5:43514518-43515676	GM12878	blood:	n/a	n/a
10	ATF3	chr5:43556815-43557087	K562	blood:	n/a	n/a
11	BACH1	chr5:43557017-43557725	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr5:43556361-43556700	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:43515357-43515784	K562	blood:	n/a	n/a
14	BCL3	chr5:43514898-43515594	A549	lung:	n/a	n/a
15	BCL3	chr5:43514878-43515453	A549	lung:	n/a	n/a
16	BCLAF1	chr5:43514907-43515422	GM12878	blood:	n/a	n/a
17	BCLAF1	chr5:43556185-43556696	GM12878	blood:	n/a	chr5:43556474-43556487
18	BCLAF1	chr5:43556752-43557673	GM12878	blood:	n/a	chr5:43557213-43557226 chr5:43557356-43557369 chr5:43557300-43557313 chr5:43557038-43557047 chr5:43557301-43557314 chr5:43557069-43557082 chr5:43557073-43557086 chr5:43557396-43557409 chr5:43557293-43557306 chr5:43557019-43557032 chr5:43556980-43556993
19	BCLAF1	chr5:43514578-43515541	GM12878	blood:	n/a	n/a
20	BCLAF1	chr5:43556772-43557451	K562	blood:	n/a	chr5:43557213-43557226 chr5:43557356-43557369 chr5:43557300-43557313 chr5:43557038-43557047 chr5:43557301-43557314 chr5:43557069-43557082 chr5:43557073-43557086 chr5:43557396-43557409 chr5:43557293-43557306 chr5:43557019-43557032 chr5:43556980-43556993
21	BCLAF1	chr5:43556730-43557432	GM12878	blood:	n/a	chr5:43557213-43557226 chr5:43557356-43557369 chr5:43557300-43557313 chr5:43557038-43557047 chr5:43557301-43557314 chr5:43557069-43557082 chr5:43557073-43557086 chr5:43557396-43557409 chr5:43557293-43557306 chr5:43557019-43557032 chr5:43556980-43556993
22	BHLHE40	chr5:43515001-43515642	K562	blood:	n/a	n/a
23	BHLHE40	chr5:43556416-43557674	GM12878	blood:	n/a	chr5:43556977-43556993
24	BHLHE40	chr5:43556348-43557796	K562	blood:	n/a	chr5:43556977-43556993
25	BRCA1	chr5:43555943-43556500	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr5:43514174-43515585	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:43556874-43557303	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr5:43556868-43557633	GM12878	blood:	n/a	n/a
29	BRCA1	chr5:43556842-43557430	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr5:43556364-43556573	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr5:43556856-43557297	HepG2	liver:	n/a	n/a
32	BRCA1	chr5:43515802-43516171	Hela-S3	cervix:	n/a	n/a
33	CBX3	chr5:43514864-43515445	K562	blood:	n/a	n/a
34	CBX3	chr5:43514637-43515578	K562	blood:	n/a	n/a
35	CBX3	chr5:43556778-43557411	K562	blood:	n/a	n/a
36	CCNT2	chr5:43556342-43557649	K562	blood:	n/a	chr5:43556582-43556591 chr5:43557523-43557532 chr5:43556469-43556478
37	CCNT2	chr5:43514847-43515458	K562	blood:	n/a	n/a
38	CCNT2	chr5:43525464-43525664	K562	blood:	n/a	n/a
39	CEBPB	chr5:43559594-43559835	HepG2	liver:	n/a	chr5:43559655-43559666
40	CEBPB	chr5:43531701-43531806	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr5:43514606-43515480	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr5:43557130-43557391	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr5:43514580-43515438	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr5:43514630-43515508	K562	blood:	n/a	n/a
45	CEBPB	chr5:43557686-43557903	K562	blood:	n/a	n/a
46	CEBPB	chr5:43559538-43559824	K562	blood:	n/a	chr5:43559655-43559666
47	CEBPB	chr5:43514881-43515805	GM12878	blood:	n/a	n/a
48	CEBPD	chr5:43556809-43557172	HepG2	liver:	n/a	n/a
49	CEBPD	chr5:43556785-43557607	K562	blood:	n/a	n/a
50	CEBPD	chr5:43514857-43515666	K562	blood:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43522200-43522250	A549	lung:	n/a
2	chr5:43558398-43558448	Hela-S3	cervix:	n/a
3	chr5:43522200-43522250	A549	lung:	n/a
4	chr5:43558398-43558448	Hela-S3	cervix:	n/a
5	chr5:43515805-43515855	HRCEpiC	kidney:	n/a
6	chr5:43521996-43522046	RPTEC	kidney:	n/a
7	chr5:43515438-43515488	NH-A	brain:	n/a
8	chr5:43522200-43522250	HL-60	blood:	n/a
9	chr5:43557521-43557571	HAEpiC	amniotic membrane:	n/a
10	chr5:43521996-43522046	AG09309	skin:	n/a
11	chr5:43521996-43522046	GM12892	blood:	n/a
12	chr5:43558398-43558448	BE2_C	brain:	n/a
13	chr5:43557602-43557652	SK-N-MC	brain:	n/a
14	chr5:43557653-43557703	NT2-D1	testis:	n/a
15	chr5:43515805-43515855	SK-N-SH	brain:	n/a
16	chr5:43557135-43557185	IMR90	lung:	fetal
17	chr5:43558398-43558448	HRE	kidney:	n/a
18	chr5:43559688-43559738	HCT-116	colon:	n/a
19	chr5:43557521-43557571	HL-60	blood:	n/a
20	chr5:43558859-43558909	CMK	blood:	n/a
21	chr5:43557644-43557694	HCF	heart:	n/a
22	chr5:43557482-43557532	SK-N-SH_RA	brain:	n/a
23	chr5:43515527-43515577	PANC-1	pancreas:	n/a
24	chr5:43557653-43557703	Hela-S3	cervix:	n/a
25	chr5:43557135-43557185	HepG2	liver:	n/a
26	chr5:43522200-43522250	MCF10A-Er-Src	breast:	n/a
27	chr5:43521996-43522046	PrEC	prostate:	n/a
28	chr5:43552780-43552830	LNCaP	prostate:	n/a
29	chr5:43557435-43557485	HCF	heart:	n/a
30	chr5:43515805-43515855	BJ	skin:	n/a
31	chr5:43557644-43557694	HCT-116	colon:	n/a
32	chr5:43557521-43557571	HEK293	kidney:	embryo
33	chr5:43557521-43557571	A549	lung:	n/a
34	chr5:43557583-43557633	HUVEC	blood vessel:	n/a
35	chr5:43557135-43557185	PANC-1	pancreas:	n/a
36	chr5:43557644-43557694	CMK	blood:	n/a
37	chr5:43515527-43515577	ovcar-3	ovarian:	n/a
38	chr5:43557482-43557532	GM19239	blood:	n/a
39	chr5:43515438-43515488	HRPEpiC	eye:	n/a
40	chr5:43557435-43557485	AG04450	lung:	fetal
41	chr5:43558398-43558448	PFSK-1	brain:	n/a
42	chr5:43557435-43557485	HAEpiC	amniotic membrane:	n/a
43	chr5:43556361-43556411	Hela-S3	cervix:	n/a
44	chr5:43557482-43557532	H1-hESC	embryonic stem cell:	embryo
45	chr5:43559688-43559738	BJ	skin:	n/a
46	chr5:43557135-43557185	PrEC	prostate:	n/a
47	chr5:43515376-43515426	AG04450	lung:	fetal
48	chr5:43515805-43515855	AG09309	skin:	n/a
49	chr5:43515438-43515488	PANC-1	pancreas:	n/a
50	chr5:43556691-43556741	HRPEpiC	eye:	n/a

(count:177 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:43475623..43478316-chr5:43514281..43516099,2	MCF-7	breast:
2	chr5:43532563..43534320-chr5:43535860..43537627,2	K562	blood:
3	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
4	chr5:43514344..43517074-chr5:43518051..43519887,3	K562	blood:
5	chr5:43519862..43522012-chr5:43522447..43525244,2	K562	blood:
6	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
7	chr5:43119888..43121712-chr5:43555739..43557363,2	K562	blood:
8	chr5:43515775..43517317-chr5:43528629..43530666,2	MCF-7	breast:
9	chr5:43556596..43557400-chr8:33370799..33371471,2	HCT-116	colon:
10	chr5:43522870..43525437-chr5:43555378..43557066,3	MCF-7	breast:
11	chr5:43557091..43557731-chr5:43602959..43603556,2	MCF-7	breast:
12	chr5:43534843..43536717-chr5:43554732..43557100,2	MCF-7	breast:
13	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:
14	chr5:43531285..43533909-chr5:43551302..43554401,3	K562	blood:
15	chr5:43519862..43522291-chr5:43523744..43525301,2	K562	blood:
16	chr3:122233679..122234223-chr5:43514539..43515399,2	NB4	blood:
17	chr5:43552178..43554497-chr5:43589226..43592032,2	K562	blood:
18	chr13:107219557..107220085-chr5:43515084..43515665,2	Hela-S3	cervix:
19	chr5:43531071..43533331-chr5:43556194..43557859,2	K562	blood:
20	chr5:43522223..43525825-chr5:43531234..43533172,3	MCF-7	breast:
21	chr5:43519862..43522291-chr5:43523744..43525301,2	K562	blood:
22	chr5:43547644..43550345-chr5:43550491..43552259,2	MCF-7	breast:
23	chr5:43547644..43550345-chr5:43550491..43552259,2	MCF-7	breast:
24	chr5:43539190..43540751-chr5:43541296..43543781,2	K562	blood:
25	chr5:43482588..43484448-chr5:43537272..43539718,3	K562	blood:
26	chr11:64851655..64852260-chr5:43514967..43515641,2	Hela-S3	cervix:
27	chr5:43556618..43557510-chr6:26056304..26057045,2	Hela-S3	cervix:
28	chr5:43523816..43525449-chr5:43531975..43533697,2	K562	blood:
29	chr5:43505282..43507808-chr5:43556089..43557593,2	K562	blood:
30	chr1:119682961..119683533-chr5:43556648..43557563,2	Hela-S3	cervix:
31	chr5:43504115..43506398-chr5:43542097..43545068,2	MCF-7	breast:
32	chr5:43513716..43515768-chr5:43530681..43534102,3	K562	blood:
33	chr5:43505801..43507815-chr5:43555939..43557727,2	MCF-7	breast:
34	chr5:43525503..43527779-chr5:43531737..43533752,2	K562	blood:
35	chr5:43558159..43559976-chr5:43570027..43571651,2	K562	blood:
36	chr5:43524064..43525669-chr5:43529470..43531232,2	K562	blood:
37	chr5:43523885..43526078-chr5:43527062..43529284,2	K562	blood:
38	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
39	chr5:43512176..43514103-chr5:43524238..43526099,2	K562	blood:
40	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
41	chr5:43121477..43123542-chr5:43528302..43530920,2	MCF-7	breast:
42	chr5:43519158..43521052-chr5:43546344..43548827,3	K562	blood:
43	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
44	chr5:43395337..43397260-chr5:43554283..43555898,2	MCF-7	breast:
45	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
46	chr5:43528692..43531315-chr5:43553476..43557686,3	MCF-7	breast:
47	chr5:43523885..43526078-chr5:43527062..43529284,2	K562	blood:
48	chr5:43120689..43121650-chr5:43556319..43557143,3	Hela-S3	cervix:
49	chr1:161735480..161736094-chr5:43556295..43557137,2	Hela-S3	cervix:
50	chr5:43514268..43515876-chr5:43530681..43532232,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NNT-2	chr5:43518375-43518770	NONHSAT147330
2	lnc-NNT-1	chr5:43515956-43516066	ENSG00000248240.1
3	lnc-NNT-1	chr5:43515376-43515562	ENSG00000248240.1
4	lnc-NNT-1	chr5:43525199-43525412	ENSG00000248240.1

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PAIP1	hsa-miR-17-5p	chr5:43526748-43526770
2	PAIP1	hsa-miR-30a-5p	chr5:43527332-43527353
3	PAIP1	hsa-miR-20a-5p	chr5:43527344-43527367
4	PAIP1	hsa-miR-17-5p	chr5:43527344-43527367
5	PAIP1	hsa-miR-20a-5p	chr5:43526748-43526770

Variant related genes	Relation type
PAIP1	TF binding region
ENSG00000248240	TF binding region
C5orf34	TF binding region
PAIP1	CpG island
ENSG00000248240	CpG island
C5orf34	CpG island
ENSG00000155380	chromatin interactions
ENSG00000116747	chromatin interactions
ENSG00000165775	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000206573	chromatin interactions
ENSG00000224536	chromatin interactions
ENSG00000239039	chromatin interactions
ENSG00000214309	chromatin interactions
ENSG00000197837	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000146729	chromatin interactions
ENSG00000057608	chromatin interactions
ENSG00000236756	chromatin interactions
ENSG00000160602	chromatin interactions
ENSG00000168137	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000165338	chromatin interactions
ENSG00000077254	chromatin interactions
ENSG00000186298	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000116750	chromatin interactions
ENSG00000118217	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000069998	chromatin interactions
ENSG00000263719	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000248554	chromatin interactions
ENSG00000138750	chromatin interactions
ENSG00000169230	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000129696	chromatin interactions
ENSG00000242798	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000226419	chromatin interactions
ENSG00000231365	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000249286	chromatin interactions
ENSG00000151748	chromatin interactions
ENSG00000134884	chromatin interactions
ENSG00000114030	chromatin interactions
ENSG00000236104	chromatin interactions
ENSG00000264808	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000134574	chromatin interactions
ENSG00000169228	chromatin interactions
ENSG00000185475	chromatin interactions
ENSG00000248092	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000104872	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000160551	chromatin interactions
ENSG00000116874	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000171848	chromatin interactions
ENSG00000159176	chromatin interactions
ENSG00000141140	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000173402	chromatin interactions
ENSG00000185837	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000226889	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000187837	chromatin interactions

Extended variants
information (count: 1778 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1778 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12520489	chr5:43515280-43515281	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	41 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574734152	chr5:43515317-43515318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
3	rs554101007	chr5:43515342-43515343	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
4	rs576847552	chr5:43515354-43515355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
5	rs111294713	chr5:43515368-43515369	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
6	rs77792221	chr5:43515371-43515372	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
7	rs562676176	chr5:43515374-43515375	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
8	rs576221388	chr5:43515385-43515386	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
9	rs542457489	chr5:43515396-43515397	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	Overlapped CNVs	n/a
10	rs6896358	chr5:43515398-43515399	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141377661	chr5:43515422-43515423	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	Overlapped CNVs	n/a
12	rs180946484	chr5:43515565-43515566	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
13	rs552445589	chr5:43515597-43515598	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
14	rs386687700	chr5:43515671-43515672	Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
15	rs6896589	chr5:43515672-43515673	Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs370922775	chr5:43515698-43515699	Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
17	rs150797504	chr5:43515704-43515705	Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs116237856	chr5:43515794-43515795	Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs185170424	chr5:43515812-43515813	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs548322807	chr5:43515825-43515826	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs568174723	chr5:43515837-43515838	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs534066766	chr5:43515863-43515864	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs373995816	chr5:43516054-43516055	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs367873313	chr5:43516056-43516057	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs116994274	chr5:43516122-43516123	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs570174583	chr5:43516126-43516127	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs139275718	chr5:43516149-43516150	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs149972935	chr5:43516255-43516256	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs556238040	chr5:43516261-43516262	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs576999136	chr5:43516318-43516319	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs576081642	chr5:43516353-43516354	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs78556944	chr5:43516434-43516435	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs562275227	chr5:43516438-43516439	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs78714681	chr5:43516480-43516481	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs376725122	chr5:43516483-43516484	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs572577016	chr5:43516572-43516573	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs115205061	chr5:43516610-43516611	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs564807532	chr5:43516630-43516631	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs115804890	chr5:43516639-43516640	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs546393403	chr5:43516651-43516652	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs397997603	chr5:43516660-43516661	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs552154318	chr5:43516728-43516729	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs562475419	chr5:43516736-43516737	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs531399060	chr5:43516763-43516764	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs548002300	chr5:43516790-43516791	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs146092992	chr5:43516791-43516792	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs533780706	chr5:43516797-43516798	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs547278931	chr5:43516799-43516800	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs190263599	chr5:43516800-43516801	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs140061376	chr5:43516807-43516808	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1898 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43513400-43515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr5:43513400-43515800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr5:43513400-43515800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:43513600-43515600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:43513600-43515600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:43513600-43515800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:43513800-43515800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:43513800-43516000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:43513800-43516000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:43513800-43516600	Active TSS	GM12878-XiMat	blood
11	chr5:43514000-43515600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:43514000-43515800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:43514000-43515800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:43514000-43515800	Active TSS	HMEC	breast
15	chr5:43514000-43515800	Active TSS	K562	blood
16	chr5:43514000-43516000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:43514000-43516400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:43514200-43515600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:43514200-43515600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:43514200-43515600	Active TSS	NHDF-Ad	bronchial
21	chr5:43514200-43515800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:43514200-43515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:43514200-43515800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:43514200-43515800	Active TSS	A549	lung
25	chr5:43514200-43516000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr5:43514200-43516000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:43514200-43516000	Active TSS	Fetal Muscle Trunk	muscle
28	chr5:43514200-43516000	Active TSS	HSMM	muscle
29	chr5:43514200-43516200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:43514200-43516200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:43514200-43516200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr5:43514200-43516200	Active TSS	Right Atrium	heart
33	chr5:43514400-43515400	Active TSS	Hela-S3	cervix
34	chr5:43514400-43515600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:43514400-43515600	Active TSS	Fetal Brain Female	brain
36	chr5:43514400-43515600	Active TSS	Fetal Intestine Small	intestine
37	chr5:43514400-43515600	Active TSS	Dnd41	blood
38	chr5:43514400-43515800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:43514400-43515800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:43514400-43515800	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:43514400-43515800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:43514400-43515800	Active TSS	Brain Germinal Matrix	brain
43	chr5:43514400-43515800	Active TSS	Fetal Intestine Large	intestine
44	chr5:43514400-43515800	Active TSS	Stomach Smooth Muscle	stomach
45	chr5:43514400-43515800	Active TSS	Thymus	Thymus
46	chr5:43514400-43515800	Active TSS	HSMMtube	muscle
47	chr5:43514400-43515800	Active TSS	NHEK	skin
48	chr5:43514400-43516000	Active TSS	Fetal Muscle Leg	muscle
49	chr5:43514400-43516000	Active TSS	Psoas Muscle	Psoas
50	chr5:43514400-43516000	Active TSS	Right Ventricle	heart

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