Variant report

Variant	esv12689
Chromosome Location	chr5:43556383-43557492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:43557062-43557257	K562	blood:	n/a	n/a
2	ARID3A	chr5:43557047-43557889	HepG2	liver:	n/a	n/a
3	ATF2	chr5:43556806-43557303	GM12878	blood:	n/a	n/a
4	ATF2	chr5:43556120-43556746	GM12878	blood:	n/a	n/a
5	ATF3	chr5:43556815-43557087	K562	blood:	n/a	n/a
6	BACH1	chr5:43556361-43556700	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:43557017-43557725	H1-hESC	embryonic stem cell:	n/a	n/a
8	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
9	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
10	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
11	BCLAF1	chr5:43556185-43556696	GM12878	blood:	n/a	chr5:43556474-43556487
12	BHLHE40	chr5:43556348-43557796	K562	blood:	n/a	chr5:43556977-43556993
13	BHLHE40	chr5:43556416-43557674	GM12878	blood:	n/a	chr5:43556977-43556993
14	BRCA1	chr5:43556364-43556573	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr5:43556868-43557633	GM12878	blood:	n/a	n/a
16	BRCA1	chr5:43555943-43556500	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr5:43556874-43557303	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr5:43556842-43557430	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr5:43556856-43557297	HepG2	liver:	n/a	n/a
20	CBX3	chr5:43556778-43557411	K562	blood:	n/a	n/a
21	CCNT2	chr5:43556342-43557649	K562	blood:	n/a	chr5:43556582-43556591 chr5:43557523-43557532 chr5:43556469-43556478
22	CEBPB	chr5:43557130-43557391	Hela-S3	cervix:	n/a	n/a
23	CEBPD	chr5:43556809-43557172	HepG2	liver:	n/a	n/a
24	CEBPD	chr5:43557178-43557451	HepG2	liver:	n/a	n/a
25	CEBPD	chr5:43556790-43557537	K562	blood:	n/a	n/a
26	CEBPD	chr5:43556785-43557607	K562	blood:	n/a	n/a
27	CHD1	chr5:43555890-43556767	H1-hESC	embryonic stem cell:	n/a	chr5:43556469-43556479
28	CHD1	chr5:43556374-43557560	GM12878	blood:	n/a	chr5:43556469-43556479 chr5:43557522-43557532
29	CHD2	chr5:43556242-43557753	GM12878	blood:	n/a	chr5:43556469-43556479 chr5:43557522-43557532
30	CHD2	chr5:43556307-43557755	K562	blood:	n/a	chr5:43556469-43556479 chr5:43557522-43557532
31	CHD2	chr5:43556258-43557434	H1-hESC	embryonic stem cell:	n/a	chr5:43556469-43556479
32	CHD2	chr5:43556450-43557740	HepG2	liver:	n/a	chr5:43556469-43556479 chr5:43557522-43557532
33	CHD2	chr5:43556199-43557799	Hela-S3	cervix:	n/a	chr5:43556469-43556479 chr5:43557522-43557532
34	CREB1	chr5:43556742-43557506	A549	lung:	n/a	n/a
35	CREB1	chr5:43556377-43556727	A549	lung:	n/a	n/a
36	CREB1	chr5:43556766-43557901	HepG2	liver:	n/a	n/a
37	CREB1	chr5:43556811-43557480	K562	blood:	n/a	n/a
38	CTCF	chr5:43557200-43557350	GM12872	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
39	CTCF	chr5:43556860-43557010	GM12865	blood:	n/a	n/a
40	CTCF	chr5:43555733-43557747	SK-N-SH	brain:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
41	CTCF	chr5:43557112-43557390	GM13977	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
42	CTCF	chr5:43556560-43556710	HEK293	kidney:	n/a	n/a
43	CTCF	chr5:43557180-43557330	GM12874	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
44	CTCF	chr5:43557360-43557510	SAEC	small airway:	n/a	n/a
45	CTCF	chr5:43556865-43557454	GM19240	blood:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
46	CTCF	chr5:43556880-43557030	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr5:43557140-43557290	AG09309	skin:	n/a	chr5:43557240-43557253 chr5:43557241-43557254
48	CTCF	chr5:43556939-43557016	GM20000	blood:	n/a	n/a
49	CTCF	chr5:43557340-43557490	HRE	kidney:	n/a	n/a
50	CTCF	chr5:43557169-43557380	MCF-7	breast:	n/a	chr5:43557240-43557253 chr5:43557241-43557254

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43557135-43557185	PrEC	prostate:	n/a
2	chr5:43557482-43557532	Hepatocyte	liver:	n/a
3	chr5:43557135-43557185	CMK	blood:	n/a
4	chr5:43556361-43556411	SAEC	small airway:	n/a
5	chr5:43557482-43557532	BE2_C	brain:	n/a
6	chr5:43557482-43557532	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:43556691-43556741	AG09309	skin:	n/a
8	chr5:43557482-43557532	HCPEpiC	choroid plexus:	n/a
9	chr5:43556361-43556411	NH-A	brain:	n/a
10	chr5:43556361-43556411	AG09309	skin:	n/a
11	chr5:43556361-43556411	HAEpiC	amniotic membrane:	n/a
12	chr5:43557482-43557532	AG10803	skin:	n/a
13	chr5:43557435-43557485	NH-A	brain:	n/a
14	chr5:43557435-43557485	HAEpiC	amniotic membrane:	n/a
15	chr5:43557435-43557485	NT2-D1	testis:	n/a
16	chr5:43556361-43556411	HCF	heart:	n/a
17	chr5:43557482-43557532	HUVEC	blood vessel:	n/a
18	chr5:43556361-43556411	AG09319	gingival:	n/a
19	chr5:43557435-43557485	HCPEpiC	choroid plexus:	n/a
20	chr5:43557482-43557532	PFSK-1	brain:	n/a
21	chr5:43557135-43557185	Jurkat	blood:	n/a
22	chr5:43556361-43556411	SKMC	muscle:	n/a
23	chr5:43557435-43557485	HUVEC	blood vessel:	n/a
24	chr5:43556691-43556741	HRE	kidney:	n/a
25	chr5:43557435-43557485	U87	brain:	n/a
26	chr5:43557135-43557185	RPTEC	kidney:	n/a
27	chr5:43556361-43556411	HRCEpiC	kidney:	n/a
28	chr5:43557135-43557185	U87	brain:	n/a
29	chr5:43557135-43557185	LNCaP	prostate:	n/a
30	chr5:43556691-43556741	Hepatocyte	liver:	n/a
31	chr5:43557135-43557185	HIPEpiC	eye:	n/a
32	chr5:43557482-43557532	Jurkat	blood:	n/a
33	chr5:43557135-43557185	GM19239	blood:	n/a
34	chr5:43557435-43557485	HMEC	breast:	n/a
35	chr5:43557135-43557185	AG09309	skin:	n/a
36	chr5:43556691-43556741	HMEC	breast:	n/a
37	chr5:43557135-43557185	HUVEC	blood vessel:	n/a
38	chr5:43557435-43557485	PFSK-1	brain:	n/a
39	chr5:43556691-43556741	PFSK-1	brain:	n/a
40	chr5:43557435-43557485	Jurkat	blood:	n/a
41	chr5:43557482-43557532	K562	blood:	n/a
42	chr5:43556361-43556411	AG04449	skin:	fetal
43	chr5:43557482-43557532	SK-N-SH	brain:	n/a
44	chr5:43556361-43556411	BE2_C	brain:	n/a
45	chr5:43556361-43556411	GM12878	blood:	n/a
46	chr5:43557435-43557485	NHDF-neo	bronchial:	n/a
47	chr5:43556691-43556741	HAEpiC	amniotic membrane:	n/a
48	chr5:43556691-43556741	HUVEC	blood vessel:	n/a
49	chr5:43557435-43557485	GM19239	blood:	n/a
50	chr5:43557435-43557485	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:111180408..111180909-chr5:43556650..43557524,2	MCF-7	breast:
2	chr17:27055082..27056024-chr5:43556763..43557563,2	Hela-S3	cervix:
3	chr2:98280019..98280550-chr5:43556723..43557699,2	Hela-S3	cervix:
4	chr5:43557000..43557782-chr5:176730254..176730958,2	NB4	blood:
5	chr5:43557091..43557731-chr5:43602959..43603556,2	MCF-7	breast:
6	chr1:113498279..113499102-chr5:43557001..43557719,2	Hela-S3	cervix:
7	chr5:43556618..43557510-chr6:26056304..26057045,2	Hela-S3	cervix:
8	chr5:43063931..43068016-chr5:43554200..43557480,3	K562	blood:
9	chr17:27717266..27717817-chr5:43556542..43557111,2	Hela-S3	cervix:
10	chr5:43505801..43507815-chr5:43555939..43557727,2	MCF-7	breast:
11	chr1:114471689..114472657-chr5:43557087..43557874,2	Hela-S3	cervix:
12	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
13	chr1:201475927..201476630-chr5:43556648..43557452,2	Hela-S3	cervix:
14	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
15	chr11:47236058..47237053-chr5:43556605..43557161,2	Hela-S3	cervix:
16	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:
17	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
18	chr22:17639626..17640361-chr5:43556833..43557442,2	HCT-116	colon:
19	chr12:92539037..92539704-chr5:43557010..43557658,2	Hela-S3	cervix:
20	chr1:119682961..119683533-chr5:43556648..43557563,2	Hela-S3	cervix:
21	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
22	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
23	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
24	chr19:17325940..17326696-chr5:43556663..43557498,2	Hela-S3	cervix:
25	chr5:43505282..43507808-chr5:43556089..43557593,2	K562	blood:
26	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
27	chr5:43119888..43121712-chr5:43555739..43557363,2	K562	blood:
28	chr5:43555203..43556754-chr5:43587792..43589517,2	MCF-7	breast:
29	chr5:43120689..43121650-chr5:43556319..43557143,3	Hela-S3	cervix:
30	chr1:109289486..109290127-chr5:43556555..43557100,2	Hela-S3	cervix:
31	chr5:43556596..43557400-chr8:33370799..33371471,2	HCT-116	colon:
32	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
33	chr5:43482505..43485566-chr5:43554663..43558409,7	MCF-7	breast:
34	chr5:43557377..43557920-chr6:26123924..26124717,2	Hela-S3	cervix:
35	chr5:43556750..43557621-chr5:172197749..172198384,2	Hela-S3	cervix:
36	chr5:43555615..43556531-chr6:27100554..27101250,2	Hela-S3	cervix:
37	chr5:43556013..43559876-chr5:43586120..43588801,3	K562	blood:
38	chr5:43556054..43556894-chrX:154255366..154256157,2	Hela-S3	cervix:
39	chr5:43513317..43518816-chr5:43554982..43559074,7	K562	blood:
40	chr5:43121048..43123106-chr5:43555521..43557723,3	MCF-7	breast:
41	chr1:161735480..161736094-chr5:43556295..43557137,2	Hela-S3	cervix:
42	chr14:81687174..81687699-chr5:43556647..43557624,2	HCT-116	colon:
43	chr12:6861979..6862810-chr5:43556567..43557310,2	Hela-S3	cervix:
44	chr5:43481891..43486310-chr5:43553986..43559337,13	K562	blood:
45	chr5:43483908..43484590-chr5:43556767..43557347,2	K562	blood:
46	chr3:49058506..49059032-chr5:43556383..43557190,2	Hela-S3	cervix:
47	chr5:43119211..43122555-chr5:43554907..43559759,4	K562	blood:

Variant related genes	Relation type
PAIP1	TF binding region
PAIP1	CpG island
ENSG00000165775	chromatin interactions
ENSG00000169228	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000185837	chromatin interactions
ENSG00000160551	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000264808	chromatin interactions
ENSG00000249286	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000069998	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000226419	chromatin interactions
ENSG00000169230	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000226889	chromatin interactions
ENSG00000224536	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000089693	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000231365	chromatin interactions
ENSG00000248092	chromatin interactions
ENSG00000159176	chromatin interactions
ENSG00000263719	chromatin interactions
ENSG00000186298	chromatin interactions
ENSG00000160602	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000134574	chromatin interactions
ENSG00000129696	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000116874	chromatin interactions
ENSG00000118217	chromatin interactions
ENSG00000239039	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000245904	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56400900	chr5:43556386-43556387	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371880864	chr5:43556409-43556410	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs574347393	chr5:43556452-43556453	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs55641556	chr5:43556487-43556488	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543039073	chr5:43556520-43556521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs376683741	chr5:43556534-43556535	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs183058567	chr5:43556541-43556542	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs10072263	chr5:43556594-43556595	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542863854	chr5:43556621-43556622	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
10	rs559554046	chr5:43556666-43556667	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
11	rs544492134	chr5:43556679-43556680	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
12	rs371017588	chr5:43556712-43556713	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
13	rs375933395	chr5:43556715-43556716	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
14	rs562875256	chr5:43556797-43556798	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
15	rs571448156	chr5:43556820-43556821	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
16	rs530208704	chr5:43556826-43556827	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
17	rs550677463	chr5:43556830-43556831	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
18	rs368538352	chr5:43556900-43556901	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
19	rs536311667	chr5:43556907-43556908	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
20	rs74693632	chr5:43556930-43556931	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
21	rs566674929	chr5:43556945-43556946	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
22	rs151315341	chr5:43556963-43556964	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
23	rs559245972	chr5:43556974-43556975	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
24	rs187350481	chr5:43556976-43556977	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
25	rs116387322	chr5:43557014-43557015	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
26	rs556969768	chr5:43557091-43557092	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
27	rs372953613	chr5:43557111-43557112	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
28	rs140710260	chr5:43557119-43557120	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	39 gene(s)	Overlapped CNVs	n/a
29	rs573798036	chr5:43557166-43557167	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
30	rs542704586	chr5:43557212-43557213	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
31	rs10043934	chr5:43557229-43557230	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs528335211	chr5:43557285-43557286	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
33	rs544861117	chr5:43557359-43557360	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
34	rs565212489	chr5:43557379-43557380	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
35	rs530687359	chr5:43557384-43557385	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
36	rs550966847	chr5:43557393-43557394	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
37	rs111854469	chr5:43557397-43557398	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
38	rs13360902	chr5:43557405-43557406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs9885481	chr5:43557406-43557407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
40	rs566614192	chr5:43557413-43557414	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43554000-43557800	Active TSS	Right Ventricle	heart
2	chr5:43554800-43557400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:43554800-43557400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:43554800-43557400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:43554800-43557800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:43554800-43558400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:43555000-43556400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr5:43555000-43556400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:43555000-43557400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:43555000-43557400	Active TSS	NHLF	lung
11	chr5:43555000-43557600	Active TSS	HSMMtube	muscle
12	chr5:43555000-43557800	Active TSS	Psoas Muscle	Psoas
13	chr5:43555200-43556400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:43555200-43556400	Active TSS	Right Atrium	heart
15	chr5:43555200-43556400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr5:43555200-43558000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:43555200-43558000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:43555200-43558000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:43555400-43556400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:43555400-43557400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:43555400-43557400	Active TSS	HMEC	breast
22	chr5:43555400-43557400	Active TSS	HSMM	muscle
23	chr5:43555400-43557400	Active TSS	NH-A	brain
24	chr5:43555400-43557800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:43555400-43558000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr5:43555400-43558000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:43555400-43558000	Active TSS	Fetal Intestine Large	intestine
28	chr5:43555600-43556400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr5:43555600-43556400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:43555600-43556400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr5:43555600-43556400	Flanking Active TSS	Liver	Liver
32	chr5:43555600-43556400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr5:43555600-43556800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr5:43555600-43557600	Active TSS	Fetal Stomach	stomach
35	chr5:43555600-43557600	Active TSS	Fetal Thymus	thymus
36	chr5:43555600-43557600	Active TSS	GM12878-XiMat	blood
37	chr5:43555600-43557600	Active TSS	K562	blood
38	chr5:43555600-43558000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:43555600-43558000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:43555600-43558000	Active TSS	Fetal Brain Female	brain
41	chr5:43555800-43556400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr5:43555800-43556400	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr5:43555800-43556400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr5:43555800-43556400	Active TSS	Brain Germinal Matrix	brain
45	chr5:43555800-43556400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr5:43555800-43556600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr5:43555800-43556600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr5:43555800-43556600	Active TSS	Fetal Heart	heart
49	chr5:43555800-43557400	Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:43555800-43557400	Active TSS	Cortex derived primary cultured neurospheres	brain

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