Variant report

Variant	esv3327191
Chromosome Location	chr9:100746156-100749004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:718)
CpG islands
(count:366)
Chromatin interactive
region (count:43)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:100746570-100746688	K562	blood:	n/a	n/a
2	ATF3	chr9:100746997-100747286	K562	blood:	n/a	n/a
3	ATF3	chr9:100746905-100747336	K562	blood:	n/a	chr9:100746985-100746994
4	BACH1	chr9:100746601-100747750	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:100744598-100746242	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr9:100746985-100747284	K562	blood:	n/a	n/a
7	BCL11A	chr9:100747346-100747596	GM12878	blood:	n/a	chr9:100747431-100747444 chr9:100747384-100747397
8	BCL3	chr9:100746950-100747393	GM12878	blood:	n/a	chr9:100746984-100746993
9	BCL3	chr9:100746948-100747323	GM12878	blood:	n/a	chr9:100746984-100746993
10	BCL3	chr9:100746380-100746939	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100746848-100746861
11	BCLAF1	chr9:100745838-100747293	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100745946-100745959 chr9:100745980-100745993 chr9:100746984-100746993 chr9:100746848-100746861 chr9:100746033-100746042
12	BCLAF1	chr9:100746272-100747546	K562	blood:	n/a	chr9:100746556-100746565 chr9:100747431-100747444 chr9:100746984-100746993 chr9:100747384-100747397 chr9:100746848-100746861
13	BCLAF1	chr9:100746483-100747364	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100746984-100746993 chr9:100746848-100746861
14	BHLHE40	chr9:100746629-100747376	K562	blood:	n/a	chr9:100746842-100746858
15	BHLHE40	chr9:100748530-100748598	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:100745054-100748035	GM12878	blood:	n/a	chr9:100746842-100746858 chr9:100747387-100747403 chr9:100747386-100747402
17	BHLHE40	chr9:100748773-100749056	K562	blood:	n/a	n/a
18	BHLHE40	chr9:100744939-100746214	K562	blood:	n/a	n/a
19	BHLHE40	chr9:100747623-100747864	K562	blood:	n/a	n/a
20	BRCA1	chr9:100746716-100747071	HepG2	liver:	n/a	n/a
21	CBX3	chr9:100746407-100746818	K562	blood:	n/a	n/a
22	CBX3	chr9:100747361-100747938	K562	blood:	n/a	n/a
23	CBX3	chr9:100746875-100747956	K562	blood:	n/a	n/a
24	CCNT2	chr9:100744860-100747806	K562	blood:	n/a	chr9:100747073-100747082
25	CEBPB	chr9:100746032-100746757	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr9:100746006-100746762	A549	lung:	n/a	n/a
27	CEBPB	chr9:100746324-100746740	K562	blood:	n/a	n/a
28	CEBPB	chr9:100746337-100746696	HepG2	liver:	n/a	n/a
29	CEBPB	chr9:100746028-100746746	IMR90	lung:	n/a	n/a
30	CEBPB	chr9:100745855-100746896	A549	lung:	n/a	n/a
31	CEBPB	chr9:100746408-100746646	HepG2	liver:	n/a	n/a
32	CEBPB	chr9:100746484-100746783	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr9:100745171-100747925	Hela-S3	cervix:	n/a	chr9:100747295-100747312
34	CEBPB	chr9:100746030-100746740	HepG2	liver:	n/a	n/a
35	CEBPB	chr9:100745913-100746378	MCF-7	breast:	n/a	n/a
36	CEBPB	chr9:100746037-100747438	K562	blood:	n/a	chr9:100747295-100747312
37	CEBPB	chr9:100745969-100746311	MCF-7	breast:	n/a	n/a
38	CEBPB	chr9:100746433-100746790	A549	lung:	n/a	n/a
39	CEBPB	chr9:100746466-100746634	K562	blood:	n/a	n/a
40	CEBPB	chr9:100746084-100746327	HepG2	liver:	n/a	n/a
41	CEBPB	chr9:100746051-100746870	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:100746357-100746791	ECC-1	luminal epithelium:	n/a	n/a
43	CEBPB	chr9:100746400-100746828	MCF-7	breast:	n/a	n/a
44	CEBPB	chr9:100746427-100746742	MCF-7	breast:	n/a	n/a
45	CEBPD	chr9:100746885-100747220	HepG2	liver:	n/a	n/a
46	CEBPD	chr9:100745890-100746729	HepG2	liver:	n/a	chr9:100746545-100746556
47	CEBPD	chr9:100746344-100747506	K562	blood:	n/a	chr9:100746545-100746556
48	CEBPD	chr9:100746777-100747530	K562	blood:	n/a	n/a
49	CEBPD	chr9:100746373-100746688	HepG2	liver:	n/a	chr9:100746545-100746556
50	CHD1	chr9:100744961-100748047	GM12878	blood:	n/a	chr9:100747607-100747617 chr9:100747760-100747770 chr9:100745426-100745433 chr9:100746427-100746437

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100746569-100746619	HCM	heart:	n/a
2	chr9:100748520-100748570	NHDF-neo	bronchial:	n/a
3	chr9:100748520-100748570	HEEpiC	esophagus:	n/a
4	chr9:100747767-100747817	HEEpiC	esophagus:	n/a
5	chr9:100748520-100748570	NH-A	brain:	n/a
6	chr9:100746253-100746303	AG09309	skin:	n/a
7	chr9:100747559-100747609	AG09319	gingival:	n/a
8	chr9:100747473-100747523	IMR90	lung:	fetal
9	chr9:100747767-100747817	U87	brain:	n/a
10	chr9:100747767-100747817	T-47D	breast:	n/a
11	chr9:100746253-100746303	GM06990	blood:	n/a
12	chr9:100746569-100746619	HNPCEpiC	eye:	n/a
13	chr9:100747473-100747523	AG09319	gingival:	n/a
14	chr9:100746569-100746619	CMK	blood:	n/a
15	chr9:100746569-100746619	Hela-S3	cervix:	n/a
16	chr9:100748520-100748570	AG04449	skin:	fetal
17	chr9:100747473-100747523	MCF10A-Er-Src	breast:	n/a
18	chr9:100747767-100747817	GM12892	blood:	n/a
19	chr9:100746569-100746619	HCPEpiC	choroid plexus:	n/a
20	chr9:100748520-100748570	ovcar-3	ovarian:	n/a
21	chr9:100748520-100748570	MCF-7	breast:	n/a
22	chr9:100746569-100746619	GM12892	blood:	n/a
23	chr9:100747559-100747609	HPAEpiC	pulmonary alveolar:	n/a
24	chr9:100747473-100747523	H1-hESC	embryonic stem cell:	embryo
25	chr9:100746569-100746619	HEK293	kidney:	embryo
26	chr9:100747767-100747817	Jurkat	blood:	n/a
27	chr9:100747767-100747817	ECC-1	luminal epithelium:	n/a
28	chr9:100746253-100746303	HUVEC	blood vessel:	n/a
29	chr9:100747767-100747817	Caco-2	colon:	n/a
30	chr9:100747559-100747609	K562	blood:	n/a
31	chr9:100747473-100747523	AG09309	skin:	n/a
32	chr9:100746569-100746619	SK-N-MC	brain:	n/a
33	chr9:100746569-100746619	Jurkat	blood:	n/a
34	chr9:100747559-100747609	BE2_C	brain:	n/a
35	chr9:100747767-100747817	ProgFib	skin:	n/a
36	chr9:100746253-100746303	BE2_C	brain:	n/a
37	chr9:100746569-100746619	AG09319	gingival:	n/a
38	chr9:100748520-100748570	HCT-116	colon:	n/a
39	chr9:100747767-100747817	MCF-7	breast:	n/a
40	chr9:100746569-100746619	AG09309	skin:	n/a
41	chr9:100746569-100746619	HCT-116	colon:	n/a
42	chr9:100746253-100746303	HEK293	kidney:	embryo
43	chr9:100746569-100746619	HEEpiC	esophagus:	n/a
44	chr9:100746253-100746303	Hepatocyte	liver:	n/a
45	chr9:100748520-100748570	HL-60	blood:	n/a
46	chr9:100747559-100747609	HMEC	breast:	n/a
47	chr9:100747767-100747817	AG04449	skin:	fetal
48	chr9:100747473-100747523	HL-60	blood:	n/a
49	chr9:100746253-100746303	SK-N-SH_RA	brain:	n/a
50	chr9:100746253-100746303	AG10803	skin:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
2	chr9:100458946..100460891-chr9:100746178..100747740,2	MCF-7	breast:
3	chr9:100395301..100398247-chr9:100745097..100747092,2	MCF-7	breast:
4	chr9:100747352..100749216-chr9:100789908..100792300,2	K562	blood:
5	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
6	chr9:100746762..100748663-chr9:100996503..100998801,2	MCF-7	breast:
7	chr9:100745732..100748566-chr9:100835046..100837989,2	MCF-7	breast:
8	chr9:100437101..100439123-chr9:100743935..100746928,2	K562	blood:
9	chr9:100745634..100748414-chr9:100792592..100795011,2	MCF-7	breast:
10	chr9:100744956..100747210-chr9:100835059..100837055,2	K562	blood:
11	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
12	chr9:100747093..100749560-chr9:100817849..100820641,3	MCF-7	breast:
13	chr12:7050893..7053745-chr9:100745089..100746721,2	MCF-7	breast:
14	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:
15	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
16	chr9:100746007..100747769-chr9:100880971..100883349,2	MCF-7	breast:
17	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
18	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
19	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
20	chr9:100745588..100746574-chrX:153626316..153627256,2	Hela-S3	cervix:
21	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
22	chr9:100746284..100748016-chr9:100953069..100955569,2	MCF-7	breast:
23	chr6:86303002..86303617-chr9:100745459..100746459,2	Hela-S3	cervix:
24	chr22:31741916..31742662-chr9:100745388..100746260,2	Hela-S3	cervix:
25	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
26	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
27	chr9:100745249..100747545-chr9:100817221..100819862,3	K562	blood:
28	chr8:86019469..86022152-chr9:100745432..100747844,2	MCF-7	breast:
29	chr9:100747508..100749189-chr9:100765582..100767848,2	MCF-7	breast:
30	chr1:24286212..24286783-chr9:100746462..100747243,2	HCT-116	colon:
31	chr10:75006711..75007399-chr9:100747059..100747804,2	Hela-S3	cervix:
32	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
33	chr13:96566533..96568077-chr9:100747317..100749032,2	MCF-7	breast:
34	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
35	chr9:100747573..100749679-chr9:100818342..100820607,2	K562	blood:
36	chr9:99179878..99181441-chr9:100745582..100747137,2	K562	blood:
37	chr14:34417944..34420786-chr9:100744880..100747851,2	MCF-7	breast:
38	chr11:64072524..64073316-chr9:100745879..100746665,2	Hela-S3	cervix:
39	chr9:100744471..100747062-chr9:100817673..100820807,4	MCF-7	breast:
40	chr9:100674231..100678302-chr9:100744904..100747134,4	MCF-7	breast:
41	chr11:1770145..1772134-chr9:100745405..100747751,2	MCF-7	breast:
42	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
43	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HEMGN-1	chr9:100748833-100749097	ENSG00000236896.1

No data

Variant related genes	Relation type
ANP32B	TF binding region
ANP32B	CpG island
ENSG00000095380	chromatin interactions
ENSG00000119403	chromatin interactions
ENSG00000095383	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000136936	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000266608	chromatin interactions
ENSG00000141337	chromatin interactions
ENSG00000136929	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000189266	chromatin interactions
ENSG00000133739	chromatin interactions
ENSG00000165244	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000136937	chromatin interactions
ENSG00000106789	chromatin interactions
ENSG00000106785	chromatin interactions
ENSG00000212521	chromatin interactions
ENSG00000236756	chromatin interactions
ENSG00000224001	chromatin interactions
ENSG00000214417	chromatin interactions
ENSG00000108932	chromatin interactions
ENSG00000244242	chromatin interactions
ENSG00000201830	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000135317	chromatin interactions
ENSG00000129521	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000231521	chromatin interactions
ENSG00000136925	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531795591	chr9:100746185-100746186	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
2	rs367790146	chr9:100746210-100746211	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
3	rs549902713	chr9:100746288-100746289	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
4	rs565036608	chr9:100746298-100746299	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
5	rs532425040	chr9:100746354-100746355	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
6	rs57298275	chr9:100746376-100746377	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565902586	chr9:100746406-100746407	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
8	rs536573265	chr9:100746425-100746426	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
9	rs548168751	chr9:100746476-100746477	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
10	rs569869502	chr9:100746519-100746520	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
11	rs537236235	chr9:100746540-100746541	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
12	rs558736375	chr9:100746569-100746570	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
13	rs570569051	chr9:100746607-100746608	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
14	rs534669355	chr9:100746638-100746639	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
15	rs117549042	chr9:100746642-100746643	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
16	rs553025951	chr9:100746647-100746648	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
17	rs574328711	chr9:100746778-100746779	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
18	rs543340506	chr9:100746801-100746802	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
19	rs554955416	chr9:100746835-100746836	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs576624961	chr9:100746846-100746847	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
21	rs144894688	chr9:100746855-100746856	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
22	rs369604651	chr9:100746856-100746857	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
23	rs543612219	chr9:100746960-100746961	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs565097201	chr9:100746977-100746978	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs117552925	chr9:100746983-100746984	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs541100103	chr9:100747001-100747002	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs559726938	chr9:100747009-100747010	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs530029546	chr9:100747018-100747019	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs12238591	chr9:100747181-100747182	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
30	rs569852034	chr9:100747233-100747234	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs10984632	chr9:100747240-100747241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs552415353	chr9:100747252-100747253	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs112939045	chr9:100747255-100747256	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs570630272	chr9:100747307-100747308	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs534735380	chr9:100747337-100747338	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs552776215	chr9:100747358-100747359	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs372823778	chr9:100747405-100747406	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs568088303	chr9:100747411-100747412	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs111401410	chr9:100747433-100747434	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs551250807	chr9:100747441-100747442	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs535101182	chr9:100747455-100747456	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs569520305	chr9:100747469-100747470	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs143575585	chr9:100747510-100747511	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs536845563	chr9:100747540-100747541	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs147162521	chr9:100747559-100747560	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs200478081	chr9:100747606-100747607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs957955	chr9:100747611-100747612	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541163344	chr9:100747657-100747658	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs567373186	chr9:100747667-100747668	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs559586014	chr9:100747713-100747714	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100744000-100747800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:100744200-100747800	Active TSS	Fetal Brain Female	brain
3	chr9:100744400-100747800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:100744600-100747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:100744600-100747400	Active TSS	Psoas Muscle	Psoas
6	chr9:100744600-100747400	Active TSS	Osteobl	bone
7	chr9:100744600-100747600	Active TSS	A549	lung
8	chr9:100744600-100747600	Active TSS	HSMMtube	muscle
9	chr9:100744600-100747600	Active TSS	NHDF-Ad	bronchial
10	chr9:100744600-100747800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:100744600-100747800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:100744600-100747800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr9:100744600-100748000	Active TSS	Brain Angular Gyrus	brain
14	chr9:100744600-100748000	Active TSS	NHLF	lung
15	chr9:100744600-100748600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:100744800-100747200	Active TSS	Pancreas	Pancrea
17	chr9:100744800-100747400	Active TSS	Brain Anterior Caudate	brain
18	chr9:100744800-100747400	Active TSS	Stomach Mucosa	stomach
19	chr9:100744800-100747400	Active TSS	Stomach Smooth Muscle	stomach
20	chr9:100744800-100747400	Active TSS	K562	blood
21	chr9:100744800-100747600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:100744800-100747600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:100744800-100747600	Active TSS	Aorta	Aorta
24	chr9:100744800-100747600	Active TSS	Fetal Lung	lung
25	chr9:100744800-100747600	Active TSS	Gastric	stomach
26	chr9:100744800-100747600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr9:100744800-100747600	Active TSS	Rectal Smooth Muscle	rectum
28	chr9:100744800-100747600	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr9:100744800-100747600	Active TSS	Hela-S3	cervix
30	chr9:100744800-100747600	Active TSS	NHEK	skin
31	chr9:100744800-100747800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:100744800-100747800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:100744800-100747800	Active TSS	Brain Substantia Nigra	brain
34	chr9:100744800-100747800	Active TSS	Fetal Intestine Large	intestine
35	chr9:100744800-100747800	Active TSS	Small Intestine	intestine
36	chr9:100744800-100748000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr9:100744800-100748000	Active TSS	Esophagus	oesophagus
38	chr9:100744800-100748000	Active TSS	Fetal Kidney	kidney
39	chr9:100744800-100748000	Active TSS	Right Atrium	heart
40	chr9:100744800-100748200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:100744800-100748400	Active TSS	HSMM	muscle
42	chr9:100745000-100747200	Active TSS	HepG2	liver
43	chr9:100745000-100747400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr9:100745000-100747400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:100745000-100747400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:100745000-100747400	Active TSS	Colon Smooth Muscle	Colon
47	chr9:100745000-100747400	Active TSS	Thymus	Thymus
48	chr9:100745000-100747400	Active TSS	Spleen	Spleen
49	chr9:100745000-100747600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:100745000-100747600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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