Variant report

Variant	nsv900086
Chromosome Location	chr13:53030565-53208030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1937)
CpG islands
(count:1650)
Chromatin interactive
region (count:55)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1937 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:53183538-53183768	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:53191399-53191692	K562	blood:	n/a	n/a
3	ARID3A	chr13:53174512-53174657	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:53191307-53191780	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:53088187-53088371	K562	blood:	n/a	n/a
6	ARID3A	chr13:53144165-53144251	HepG2	liver:	n/a	n/a
7	ATF1	chr13:53088164-53088389	K562	blood:	n/a	n/a
8	ATF2	chr13:53191240-53191855	GM12878	blood:	n/a	n/a
9	ATF2	chr13:53191356-53191832	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr13:53191325-53191749	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr13:53191283-53191848	GM12878	blood:	n/a	n/a
12	ATF3	chr13:53191222-53191681	K562	blood:	n/a	n/a
13	ATF3	chr13:53088183-53088428	K562	blood:	n/a	n/a
14	ATF3	chr13:53191426-53191696	A549	lung:	n/a	n/a
15	ATF3	chr13:53190031-53190175	K562	blood:	n/a	n/a
16	ATF3	chr13:53191126-53191583	A549	lung:	n/a	n/a
17	ATF3	chr13:53190868-53191269	A549	lung:	n/a	n/a
18	BACH1	chr13:53191461-53191869	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr13:53088181-53088381	K562	blood:	n/a	n/a
20	BACH1	chr13:53174341-53174515	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr13:53191419-53191784	GM12878	blood:	n/a	n/a
22	BATF	chr13:53197949-53198190	GM12878	blood:	n/a	n/a
23	BATF	chr13:53205194-53205499	GM12878	blood:	n/a	n/a
24	BATF	chr13:53144126-53144351	GM12878	blood:	n/a	n/a
25	BATF	chr13:53072199-53072653	GM12878	blood:	n/a	n/a
26	BATF	chr13:53157172-53157376	GM12878	blood:	n/a	n/a
27	BATF	chr13:53072412-53072681	GM12878	blood:	n/a	n/a
28	BATF	chr13:53107072-53107288	GM12878	blood:	n/a	chr13:53107179-53107190
29	BATF	chr13:53145320-53145576	GM12878	blood:	n/a	n/a
30	BATF	chr13:53168047-53168204	GM12878	blood:	n/a	chr13:53168148-53168159
31	BATF	chr13:53032296-53032472	GM12878	blood:	n/a	n/a
32	BCL11A	chr13:53072127-53072440	GM12878	blood:	n/a	n/a
33	BCL11A	chr13:53198011-53198210	GM12878	blood:	n/a	n/a
34	BCL11A	chr13:53072215-53072448	GM12878	blood:	n/a	n/a
35	BCL3	chr13:53191278-53191797	A549	lung:	n/a	n/a
36	BCL3	chr13:53169503-53169768	GM12878	blood:	n/a	chr13:53169573-53169580
37	BCLAF1	chr13:53191353-53191822	K562	blood:	n/a	n/a
38	BCLAF1	chr13:53191124-53191910	GM12878	blood:	n/a	n/a
39	BCLAF1	chr13:53191315-53191849	K562	blood:	n/a	n/a
40	BCLAF1	chr13:53191324-53191879	GM12878	blood:	n/a	n/a
41	BHLHE40	chr13:53174270-53174560	GM12878	blood:	n/a	chr13:53174441-53174450 chr13:53174538-53174554 chr13:53174441-53174450
42	BHLHE40	chr13:53176503-53176777	HepG2	liver:	n/a	n/a
43	BHLHE40	chr13:53191420-53191763	HepG2	liver:	n/a	n/a
44	BHLHE40	chr13:53191334-53191826	GM12878	blood:	n/a	n/a
45	BHLHE40	chr13:53176718-53176745	HepG2	liver:	n/a	n/a
46	BHLHE40	chr13:53191383-53191830	K562	blood:	n/a	n/a
47	BHLHE40	chr13:53174079-53174627	HepG2	liver:	n/a	chr13:53174441-53174450 chr13:53174538-53174554 chr13:53174441-53174450
48	BRCA1	chr13:53191469-53191790	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr13:53183594-53183662	HepG2	liver:	n/a	n/a
50	BRCA1	chr13:53191401-53191762	GM12878	blood:	n/a	n/a

(count:1650 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53173507-53173557	Caco-2	colon:	n/a
2	chr13:53191763-53191813	NH-A	brain:	n/a
3	chr13:53191643-53191693	SAEC	small airway:	n/a
4	chr13:53173507-53173557	Caco-2	colon:	n/a
5	chr13:53191763-53191813	NH-A	brain:	n/a
6	chr13:53191643-53191693	SAEC	small airway:	n/a
7	chr13:53049959-53050009	HPAEpiC	pulmonary alveolar:	n/a
8	chr13:53191650-53191700	BJ	skin:	n/a
9	chr13:53065411-53065461	GM12892	blood:	n/a
10	chr13:53171401-53171451	H1-hESC	embryonic stem cell:	embryo
11	chr13:53173507-53173557	NHDF-neo	bronchial:	n/a
12	chr13:53061810-53061860	BE2_C	brain:	n/a
13	chr13:53191650-53191700	HMEC	breast:	n/a
14	chr13:53191046-53191096	HPAEpiC	pulmonary alveolar:	n/a
15	chr13:53191650-53191700	BE2_C	brain:	n/a
16	chr13:53173507-53173557	SK-N-SH_RA	brain:	n/a
17	chr13:53191308-53191358	HL-60	blood:	n/a
18	chr13:53173898-53173948	AG09309	skin:	n/a
19	chr13:53191537-53191587	MCF-7	breast:	n/a
20	chr13:53065411-53065461	SK-N-SH	brain:	n/a
21	chr13:53033788-53033838	CMK	blood:	n/a
22	chr13:53191650-53191700	U87	brain:	n/a
23	chr13:53191308-53191358	IMR90	lung:	fetal
24	chr13:53059214-53059264	HL-60	blood:	n/a
25	chr13:53176723-53176773	A549	lung:	n/a
26	chr13:53174042-53174092	AG04450	lung:	fetal
27	chr13:53191909-53191959	SAEC	small airway:	n/a
28	chr13:53171401-53171451	GM12878	blood:	n/a
29	chr13:53065411-53065461	MCF10A-Er-Src	breast:	n/a
30	chr13:53191547-53191597	HCT-116	colon:	n/a
31	chr13:53059214-53059264	HEK293	kidney:	embryo
32	chr13:53191541-53191591	ovcar-3	ovarian:	n/a
33	chr13:53065411-53065461	PFSK-1	brain:	n/a
34	chr13:53059214-53059264	A549	lung:	n/a
35	chr13:53191541-53191591	Jurkat	blood:	n/a
36	chr13:53191046-53191096	AG10803	skin:	n/a
37	chr13:53174818-53174868	NHBE	bronchial:	n/a
38	chr13:53191491-53191541	IMR90	lung:	fetal
39	chr13:53191541-53191591	HL-60	blood:	n/a
40	chr13:53065411-53065461	HEK293	kidney:	embryo
41	chr13:53065411-53065461	T-47D	breast:	n/a
42	chr13:53049959-53050009	IMR90	lung:	fetal
43	chr13:53194212-53194262	Jurkat	blood:	n/a
44	chr13:53059214-53059264	NT2-D1	testis:	n/a
45	chr13:53191541-53191591	HIPEpiC	eye:	n/a
46	chr13:53191471-53191521	Caco-2	colon:	n/a
47	chr13:53191909-53191959	SK-N-SH	brain:	n/a
48	chr13:53033788-53033838	HepG2	liver:	n/a
49	chr13:53174042-53174092	HCT-116	colon:	n/a
50	chr13:53194212-53194262	BE2_C	brain:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:53197627..53200441-chr13:53224440..53227074,2	K562	blood:
2	chr13:53035263..53041747-chr13:53043421..53048270,6	K562	blood:
3	chr13:53034739..53038447-chr13:53039311..53042950,6	K562	blood:
4	chr13:53028375..53031142-chr13:53037942..53039768,3	MCF-7	breast:
5	chr13:53169737..53172275-chr13:53234901..53237385,2	MCF-7	breast:
6	chr13:53043306..53045600-chr13:53047199..53049509,2	MCF-7	breast:
7	chr13:53201490..53204133-chr13:53204662..53206494,2	K562	blood:
8	chr13:53049275..53051586-chr13:53052175..53054640,2	MCF-7	breast:
9	chr13:53173175..53175683-chr13:53225993..53228450,3	MCF-7	breast:
10	chr13:53023259..53027625-chr13:53027753..53030727,5	MCF-7	breast:
11	chr13:53038170..53040803-chr13:53042375..53044439,2	MCF-7	breast:
12	chr13:53201490..53204133-chr13:53204662..53206494,2	K562	blood:
13	chr13:53189348..53193688-chr13:53225267..53228139,8	MCF-7	breast:
14	chr13:53184666..53187320-chr13:53188643..53190811,2	K562	blood:
15	chr13:53024598..53026541-chr13:53038794..53041204,2	K562	blood:
16	chr13:53199898..53201820-chr13:53204717..53207641,2	K562	blood:
17	chr13:53028362..53031002-chr13:53041307..53043821,2	MCF-7	breast:
18	chr13:53023268..53024993-chr13:53036223..53037805,2	K562	blood:
19	chr13:53172771..53175608-chr13:53190178..53193759,4	MCF-7	breast:
20	chr13:53183231..53184124-chr13:53542318..53542852,2	MCF-7	breast:
21	chr13:53049275..53051586-chr13:53052175..53054640,2	MCF-7	breast:
22	chr13:53023875..53025638-chr13:53174219..53175747,2	MCF-7	breast:
23	chr13:52025134..52027888-chr13:53029090..53030597,2	MCF-7	breast:
24	chr13:53025603..53028034-chr13:53044066..53046923,2	K562	blood:
25	chr12:53344450..53346377-chr13:53029194..53030956,2	MCF-7	breast:
26	chr13:53038170..53040803-chr13:53042375..53044439,2	MCF-7	breast:
27	chr13:53199936..53201723-chr13:53223791..53226214,2	K562	blood:
28	chr13:53184666..53187320-chr13:53188643..53190811,2	K562	blood:
29	chr13:53028437..53031051-chr13:53036897..53040405,3	MCF-7	breast:
30	chr13:53034318..53035830-chr13:53040795..53043273,2	MCF-7	breast:
31	chr13:53028109..53029845-chr13:53190052..53193351,3	MCF-7	breast:
32	chr13:53028078..53032210-chr13:53033257..53037371,7	MCF-7	breast:
33	chr13:53190930..53191973-chr13:53226605..53227465,3	MCF-7	breast:
34	chr13:53033923..53036375-chr13:53036479..53039026,2	K562	blood:
35	chr13:53202759..53205661-chr13:53225651..53228135,2	MCF-7	breast:
36	chr13:53034318..53035830-chr13:53040795..53043273,2	MCF-7	breast:
37	chr13:53031068..53033072-chr13:53251817..53253830,2	K562	blood:
38	chr13:53199898..53201820-chr13:53204717..53207641,2	K562	blood:
39	chr12:93771675..93772184-chr13:53174171..53174759,2	NB4	blood:
40	chr13:53034739..53038447-chr13:53039311..53042950,6	K562	blood:
41	chr13:53176767..53178427-chr13:53183717..53185389,2	MCF-7	breast:
42	chr10:131908141..131909040-chr13:53174069..53174686,2	Hela-S3	cervix:
43	chr13:53176767..53178427-chr13:53183717..53185389,2	MCF-7	breast:
44	chr13:53174054..53174958-chr19:10443932..10444611,2	NB4	blood:
45	chr13:52768173..52768983-chr13:53191222..53192131,3	NB4	blood:
46	chr13:53190401..53192261-chr13:53196338..53199090,3	MCF-7	breast:
47	chr13:53028617..53031103-chr13:53172840..53175725,3	MCF-7	breast:
48	chr13:53191451..53193324-chr13:53224550..53227605,3	MCF-7	breast:
49	chr13:53028522..53030848-chr13:53037507..53039511,2	K562	blood:
50	chr13:53207158..53209023-chr13:53213230..53214955,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2-1	chr13:53064244-53064350	ENSG00000244471.1
2	lnc-SUGT1-2	chr13:53196121-53196400	NONHSAT033997
3	lnc-VPS36-1	chr13:53058296-53058419	XLOC_010621
4	lnc-CKAP2-1	chr13:53063128-53063478	ENSG00000244471.1
5	lnc-VPS36-1	chr13:53058655-53058815	XLOC_010621
6	lnc-SUGT1-2	chr13:53203352-53203490	NONHSAT033997
7	lnc-VPS36-2	chr13:53049716-53049947	NONHSAT033993
8	lnc-SUGT1-2	chr13:53191693-53191840	NONHSAT033997
9	lnc-HNRNPA1L2-1	chr13:53047670-53048219	NONHSAT033992
10	lnc-CKAP2-1	chr13:53073178-53073440	ENSG00000244471.1
11	lnc-SUGT1-2	chr13:53206555-53206624	NONHSAT033997
12	lnc-SUGT1-2	chr13:53201575-53201710	NONHSAT033997
13	lnc-CKAP2-1	chr13:53073178-53073279	ENSG00000244471.1
14	lnc-CKAP2-1	chr13:53063128-53063478	ENSG00000244471.1
15	lnc-CKAP2-1	chr13:53064244-53064350	ENSG00000244471.1
16	lnc-HNRNPA1L2-1	chr13:53049030-53049277	NONHSAT033992
17	lnc-CKAP2-1	chr13:53071697-53071809	ENSG00000244471.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CKAP2	hsa-miR-106a-5p	chr13:53050367-53050389
2	CKAP2	hsa-miR-106a-5p	chr13:53050659-53050680

Variant related genes	Relation type
LINC00345	TF binding region
TPTE2P3	TF binding region
HNRNPA1L2	TF binding region
MRPS31P4	TF binding region
CKAP2	TF binding region
ENSG00000244471	TF binding region
LINC00345	CpG island
TPTE2P3	CpG island
HNRNPA1L2	CpG island
MRPS31P4	CpG island
CKAP2	CpG island
ENSG00000244471	CpG island
ENSG00000136108	chromatin interactions
ENSG00000265039	chromatin interactions
ENSG00000136100	chromatin interactions
ENSG00000165416	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000250299	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000111057	chromatin interactions
ENSG00000139675	chromatin interactions

Extended variants
information (count: 3258 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:3258 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9536079	chr13:53030565-53030566	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373368081	chr13:53030572-53030573	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs547382858	chr13:53030574-53030575	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs75687906	chr13:53030587-53030588	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs367736031	chr13:53030614-53030615	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs530034172	chr13:53030619-53030620	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs371516939	chr13:53030627-53030628	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs199906555	chr13:53030640-53030641	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs549793189	chr13:53030667-53030668	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs139637131	chr13:53030672-53030673	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs149997663	chr13:53030683-53030684	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs202147843	chr13:53030706-53030707	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs145357920	chr13:53030715-53030716	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs201667638	chr13:53030779-53030780	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs142427528	chr13:53030792-53030793	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs372841534	chr13:53030797-53030798	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs184432125	chr13:53030823-53030824	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370476384	chr13:53030854-53030855	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542745496	chr13:53030882-53030883	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs552261518	chr13:53030913-53030914	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs115069387	chr13:53030926-53030927	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs145944299	chr13:53030949-53030950	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs577835270	chr13:53031051-53031052	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112076331	chr13:53031058-53031059	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139788628	chr13:53031069-53031070	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574726184	chr13:53031070-53031071	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537788462	chr13:53031077-53031078	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs551683422	chr13:53031079-53031080	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565057774	chr13:53031087-53031088	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187310147	chr13:53031089-53031090	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116180216	chr13:53031118-53031119	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112464276	chr13:53031163-53031164	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114935106	chr13:53031180-53031181	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564988275	chr13:53031182-53031183	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs529821674	chr13:53031184-53031185	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150809210	chr13:53031232-53031233	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541108351	chr13:53031250-53031251	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558526416	chr13:53031307-53031308	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566864235	chr13:53031317-53031318	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529650565	chr13:53031325-53031326	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7339070	chr13:53031339-53031340	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549109604	chr13:53031347-53031348	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192556241	chr13:53031348-53031349	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs80348943	chr13:53031371-53031372	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565516277	chr13:53031372-53031373	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149939072	chr13:53031377-53031378	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs534825082	chr13:53031444-53031445	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548384107	chr13:53031483-53031484	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs76280584	chr13:53031502-53031503	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184592062	chr13:53031552-53031553	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:2251 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53028200-53030600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:53028200-53030800	Active TSS	Brain Angular Gyrus	brain
3	chr13:53028400-53030600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:53028400-53030600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr13:53028400-53030600	Active TSS	Colonic Mucosa	Colon
6	chr13:53028400-53030600	Active TSS	Fetal Intestine Large	intestine
7	chr13:53028400-53030600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr13:53028400-53030600	Active TSS	K562	blood
9	chr13:53028400-53030800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr13:53028400-53030800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr13:53028400-53030800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:53028400-53030800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:53028400-53031000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr13:53028400-53031600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:53028600-53030600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr13:53028600-53030600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr13:53028600-53030600	Active TSS	Hela-S3	cervix
18	chr13:53028600-53031000	Active TSS	A549	lung
19	chr13:53028600-53033200	Active TSS	GM12878-XiMat	blood
20	chr13:53028800-53030600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr13:53028800-53030600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:53028800-53030600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:53028800-53030600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr13:53028800-53030600	Active TSS	Fetal Muscle Trunk	muscle
25	chr13:53028800-53030600	Active TSS	Placenta	Placenta
26	chr13:53028800-53030600	Active TSS	Right Atrium	heart
27	chr13:53028800-53030600	Active TSS	Right Ventricle	heart
28	chr13:53028800-53030600	Active TSS	HMEC	breast
29	chr13:53028800-53030600	Active TSS	HSMMtube	muscle
30	chr13:53028800-53030800	Active TSS	Fetal Thymus	thymus
31	chr13:53029000-53030600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:53029000-53030600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:53029000-53030600	Active TSS	Primary T cells fromperipheralblood	blood
34	chr13:53029000-53030600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:53029000-53030600	Active TSS	HSMM	muscle
36	chr13:53029000-53030800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr13:53029000-53030800	Active TSS	Fetal Muscle Leg	muscle
38	chr13:53029000-53030800	Active TSS	Thymus	Thymus
39	chr13:53029200-53030600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:53029200-53030800	Active TSS	Fetal Kidney	kidney
41	chr13:53029800-53031000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr13:53030000-53030600	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr13:53030000-53030600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr13:53030000-53030600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr13:53030000-53030600	Flanking Active TSS	Liver	Liver
46	chr13:53030000-53030600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr13:53030000-53030800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr13:53030000-53030800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr13:53030000-53030800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr13:53030000-53030800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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