Variant report

Variant	esv3525787
Chromosome Location	chr9:100744481-100748729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1219)
CpG islands
(count:611)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1219 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

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	ARID3A	chr9:100745000-100745725	K562	blood:	n/a	n/a
3	ATF1	chr9:100745214-100745760	K562	blood:	n/a	n/a
4	ATF2	chr9:100745135-100745458	GM12878	blood:	n/a	n/a
5	ATF2	chr9:100744922-100745594	GM12878	blood:	n/a	n/a
6	ATF2	chr9:100744483-100744971	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr9:100746905-100747336	K562	blood:	n/a	chr9:100746985-100746994
8	ATF3	chr9:100746997-100747286	K562	blood:	n/a	n/a
9	ATF3	chr9:100745156-100745627	K562	blood:	n/a	n/a
10	BACH1	chr9:100744598-100746242	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr9:100746601-100747750	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr9:100746985-100747284	K562	blood:	n/a	n/a
13	BCL11A	chr9:100747346-100747596	GM12878	blood:	n/a	chr9:100747431-100747444 chr9:100747384-100747397
14	BCL3	chr9:100745015-100745834	A549	lung:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745789-100745802 chr9:100745716-100745729 chr9:100745792-100745801 chr9:100745786-100745795
15	BCL3	chr9:100745143-100745796	GM12878	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745716-100745729 chr9:100745786-100745795
16	BCL3	chr9:100746950-100747393	GM12878	blood:	n/a	chr9:100746984-100746993
17	BCL3	chr9:100746380-100746939	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100746848-100746861
18	BCL3	chr9:100746948-100747323	GM12878	blood:	n/a	chr9:100746984-100746993
19	BCLAF1	chr9:100746483-100747364	GM12878	blood:	n/a	chr9:100746556-100746565 chr9:100746984-100746993 chr9:100746848-100746861
20	BCLAF1	chr9:100744925-100745765	GM12878	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745716-100745729
21	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
22	BCLAF1	chr9:100746272-100747546	K562	blood:	n/a	chr9:100746556-100746565 chr9:100747431-100747444 chr9:100746984-100746993 chr9:100747384-100747397 chr9:100746848-100746861
23	BCLAF1	chr9:100745005-100745792	GM12878	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745716-100745729
24	BCLAF1	chr9:100745023-100745830	K562	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745789-100745802 chr9:100745716-100745729 chr9:100745792-100745801 chr9:100745786-100745795
25	BHLHE40	chr9:100744939-100746214	K562	blood:	n/a	n/a
26	BHLHE40	chr9:100745032-100745787	HepG2	liver:	n/a	n/a
27	BHLHE40	chr9:100748530-100748598	GM12878	blood:	n/a	n/a
28	BHLHE40	chr9:100746629-100747376	K562	blood:	n/a	chr9:100746842-100746858
29	BHLHE40	chr9:100745054-100748035	GM12878	blood:	n/a	chr9:100746842-100746858 chr9:100747387-100747403 chr9:100747386-100747402
30	BHLHE40	chr9:100747623-100747864	K562	blood:	n/a	n/a
31	BRCA1	chr9:100745118-100745462	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr9:100746716-100747071	HepG2	liver:	n/a	n/a
33	BRCA1	chr9:100745348-100745648	HepG2	liver:	n/a	n/a
34	BRCA1	chr9:100745001-100745187	GM12878	blood:	n/a	n/a
35	CBX3	chr9:100747361-100747938	K562	blood:	n/a	n/a
36	CBX3	chr9:100746407-100746818	K562	blood:	n/a	n/a
37	CBX3	chr9:100746875-100747956	K562	blood:	n/a	n/a
38	CBX3	chr9:100744927-100745764	K562	blood:	n/a	n/a
39	CCNT2	chr9:100744860-100747806	K562	blood:	n/a	chr9:100747073-100747082
40	CEBPB	chr9:100746357-100746791	ECC-1	luminal epithelium:	n/a	n/a
41	CEBPB	chr9:100746030-100746740	HepG2	liver:	n/a	n/a
42	CEBPB	chr9:100746466-100746634	K562	blood:	n/a	n/a
43	CEBPB	chr9:100745121-100745621	ECC-1	luminal epithelium:	n/a	n/a
44	CEBPB	chr9:100745231-100745557	HepG2	liver:	n/a	n/a
45	CEBPB	chr9:100746408-100746646	HepG2	liver:	n/a	n/a
46	CEBPB	chr9:100745446-100745615	HepG2	liver:	n/a	n/a
47	CEBPB	chr9:100745083-100745528	K562	blood:	n/a	n/a
48	CEBPB	chr9:100745199-100745600	HepG2	liver:	n/a	n/a
49	CEBPB	chr9:100745166-100745620	K562	blood:	n/a	n/a
50	CEBPB	chr9:100746427-100746742	MCF-7	breast:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100747559-100747609	MCF10A-Er-Src	breast:	n/a
2	chr9:100747559-100747609	MCF10A-Er-Src	breast:	n/a
3	chr9:100745354-100745404	HepG2	liver:	n/a
4	chr9:100747559-100747609	A549	lung:	n/a
5	chr9:100746253-100746303	NB4	blood:	n/a
6	chr9:100746253-100746303	BE2_C	brain:	n/a
7	chr9:100747767-100747817	PrEC	prostate:	n/a
8	chr9:100746569-100746619	HCT-116	colon:	n/a
9	chr9:100745139-100745189	MCF-7	breast:	n/a
10	chr9:100746569-100746619	AG04449	skin:	fetal
11	chr9:100745139-100745189	HIPEpiC	eye:	n/a
12	chr9:100745159-100745209	SAEC	small airway:	n/a
13	chr9:100745159-100745209	ProgFib	skin:	n/a
14	chr9:100745354-100745404	Hela-S3	cervix:	n/a
15	chr9:100745975-100746025	CMK	blood:	n/a
16	chr9:100745975-100746025	HL-60	blood:	n/a
17	chr9:100746253-100746303	HRE	kidney:	n/a
18	chr9:100746569-100746619	GM19239	blood:	n/a
19	chr9:100745975-100746025	K562	blood:	n/a
20	chr9:100746569-100746619	BE2_C	brain:	n/a
21	chr9:100748520-100748570	HCM	heart:	n/a
22	chr9:100746253-100746303	ECC-1	luminal epithelium:	n/a
23	chr9:100745354-100745404	HEEpiC	esophagus:	n/a
24	chr9:100747767-100747817	Jurkat	blood:	n/a
25	chr9:100745975-100746025	GM12891	blood:	n/a
26	chr9:100745975-100746025	BE2_C	brain:	n/a
27	chr9:100745975-100746025	A549	lung:	n/a
28	chr9:100747767-100747817	U87	brain:	n/a
29	chr9:100746569-100746619	HAEpiC	amniotic membrane:	n/a
30	chr9:100745159-100745209	AG04449	skin:	fetal
31	chr9:100745354-100745404	AoSMC	blood vessel:	n/a
32	chr9:100745139-100745189	HCT-116	colon:	n/a
33	chr9:100745159-100745209	HAEpiC	amniotic membrane:	n/a
34	chr9:100748520-100748570	HAEpiC	amniotic membrane:	n/a
35	chr9:100747473-100747523	SK-N-SH_RA	brain:	n/a
36	chr9:100746569-100746619	HL-60	blood:	n/a
37	chr9:100746253-100746303	ovcar-3	ovarian:	n/a
38	chr9:100748520-100748570	HCPEpiC	choroid plexus:	n/a
39	chr9:100747559-100747609	HepG2	liver:	n/a
40	chr9:100746253-100746303	PrEC	prostate:	n/a
41	chr9:100746253-100746303	SAEC	small airway:	n/a
42	chr9:100747473-100747523	SK-N-SH	brain:	n/a
43	chr9:100747559-100747609	Jurkat	blood:	n/a
44	chr9:100745139-100745189	RPTEC	kidney:	n/a
45	chr9:100748520-100748570	HUVEC	blood vessel:	n/a
46	chr9:100747767-100747817	ProgFib	skin:	n/a
47	chr9:100745159-100745209	PFSK-1	brain:	n/a
48	chr9:100746253-100746303	AG04450	lung:	fetal
49	chr9:100745139-100745189	HCPEpiC	choroid plexus:	n/a
50	chr9:100745354-100745404	HNPCEpiC	eye:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:96566533..96568077-chr9:100747317..100749032,2	MCF-7	breast:
2	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:
3	chr9:100745588..100746574-chrX:153626316..153627256,2	Hela-S3	cervix:
4	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
5	chr9:100685626..100686321-chr9:100744853..100745599,2	MCF-7	breast:
6	chr8:86019469..86022152-chr9:100745432..100747844,2	MCF-7	breast:
7	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
8	chr9:100746007..100747769-chr9:100880971..100883349,2	MCF-7	breast:
9	chr9:100746284..100748016-chr9:100953069..100955569,2	MCF-7	breast:
10	chr9:100746762..100748663-chr9:100996503..100998801,2	MCF-7	breast:
11	chr9:100395301..100398247-chr9:100745097..100747092,2	MCF-7	breast:
12	chr9:99179878..99181441-chr9:100745582..100747137,2	K562	blood:
13	chr9:100747093..100749560-chr9:100817849..100820641,3	MCF-7	breast:
14	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
15	chr9:100745249..100747545-chr9:100817221..100819862,3	K562	blood:
16	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
17	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
18	chr12:7050893..7053745-chr9:100745089..100746721,2	MCF-7	breast:
19	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
20	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
21	chr9:100744471..100747062-chr9:100817673..100820807,4	MCF-7	breast:
22	chr9:100745634..100748414-chr9:100792592..100795011,2	MCF-7	breast:
23	chr9:100395236..100396868-chr9:100743200..100745382,2	K562	blood:
24	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
25	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
26	chr9:100747573..100749679-chr9:100818342..100820607,2	K562	blood:
27	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
28	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
29	chr10:75006711..75007399-chr9:100747059..100747804,2	Hela-S3	cervix:
30	chr9:100747508..100749189-chr9:100765582..100767848,2	MCF-7	breast:
31	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
32	chr9:100744956..100747210-chr9:100835059..100837055,2	K562	blood:
33	chr9:100458946..100460891-chr9:100746178..100747740,2	MCF-7	breast:
34	chr11:1770145..1772134-chr9:100745405..100747751,2	MCF-7	breast:
35	chr6:86303002..86303617-chr9:100745459..100746459,2	Hela-S3	cervix:
36	chr9:100674231..100678302-chr9:100744904..100747134,4	MCF-7	breast:
37	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
38	chr1:24286212..24286783-chr9:100746462..100747243,2	HCT-116	colon:
39	chr22:31741916..31742662-chr9:100745388..100746260,2	Hela-S3	cervix:
40	chr9:100437101..100439123-chr9:100743935..100746928,2	K562	blood:
41	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
42	chr9:100747352..100749216-chr9:100789908..100792300,2	K562	blood:
43	chr11:64072524..64073316-chr9:100745879..100746665,2	Hela-S3	cervix:
44	chr14:34417944..34420786-chr9:100744880..100747851,2	MCF-7	breast:
45	chr6:34204437..34204948-chr9:100745047..100745884,2	HCT-116	colon:
46	chr9:100745095..100746036-chr9:125667296..125667841,2	Hela-S3	cervix:
47	chr9:100745732..100748566-chr9:100835046..100837989,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANP32B	TF binding region
ANP32B	CpG island
ENSG00000106785	chromatin interactions
ENSG00000056586	chromatin interactions
ENSG00000095383	chromatin interactions
ENSG00000141337	chromatin interactions
ENSG00000136929	chromatin interactions
ENSG00000224001	chromatin interactions
ENSG00000108932	chromatin interactions
ENSG00000129521	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000231521	chromatin interactions
ENSG00000133739	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000136925	chromatin interactions
ENSG00000189266	chromatin interactions
ENSG00000100105	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000136936	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000106789	chromatin interactions
ENSG00000201830	chromatin interactions
ENSG00000212521	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000119403	chromatin interactions
ENSG00000214417	chromatin interactions
ENSG00000236756	chromatin interactions
ENSG00000136937	chromatin interactions
ENSG00000095380	chromatin interactions
ENSG00000165244	chromatin interactions
ENSG00000244242	chromatin interactions
ENSG00000266608	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000135317	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530614753	chr9:100744520-100744521	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs542793904	chr9:100744584-100744585	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs10984626	chr9:100744594-100744595	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77696151	chr9:100744626-100744627	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs114699417	chr9:100744667-100744668	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs138628563	chr9:100744690-100744691	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs544498141	chr9:100744739-100744740	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs563887265	chr9:100744813-100744814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs374353306	chr9:100744823-100744824	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs553570987	chr9:100744824-100744825	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs529948293	chr9:100744846-100744847	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs571886328	chr9:100744972-100744973	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs561418157	chr9:100744999-100745000	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs546922813	chr9:100745007-100745008	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs542392874	chr9:100745014-100745015	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs561030791	chr9:100745035-100745036	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs531255187	chr9:100745050-100745051	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs543408850	chr9:100745067-100745068	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs564831207	chr9:100745134-100745135	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
20	rs533687097	chr9:100745147-100745148	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs148880608	chr9:100745168-100745169	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs199711266	chr9:100745287-100745288	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs527875919	chr9:100745321-100745322	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs559387563	chr9:100745327-100745328	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs567749946	chr9:100745342-100745343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs182172825	chr9:100745409-100745410	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
27	rs375784134	chr9:100745424-100745425	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
28	rs571279948	chr9:100745435-100745436	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs535918331	chr9:100745443-100745444	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
30	rs538573813	chr9:100745602-100745603	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
31	rs553634567	chr9:100745609-100745610	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
32	rs116897480	chr9:100745613-100745614	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs536445212	chr9:100745627-100745628	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
34	rs532415063	chr9:100745640-100745641	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
35	rs554420834	chr9:100745671-100745672	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
36	rs576096938	chr9:100745721-100745722	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
37	rs543119443	chr9:100745723-100745724	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
38	rs564899483	chr9:100745763-100745764	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs3739673	chr9:100745765-100745766	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
40	rs545752620	chr9:100745773-100745774	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
41	rs560762108	chr9:100745786-100745787	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs370788415	chr9:100745794-100745795	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs527931779	chr9:100745833-100745834	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
44	rs374378445	chr9:100745881-100745882	Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
45	rs3739672	chr9:100745902-100745903	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	mRNA abundance
46	rs561290011	chr9:100745905-100745906	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
47	rs77249114	chr9:100745911-100745912	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
48	rs373994803	chr9:100745915-100745916	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
49	rs549839618	chr9:100745917-100745918	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
50	rs571341218	chr9:100745923-100745924	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

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:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100735800-100744800	Weak transcription	Right Atrium	heart
2	chr9:100740600-100745600	Enhancers	Fetal Brain Male	brain
3	chr9:100740800-100744600	Enhancers	Primary T cells from cord blood	blood
4	chr9:100740800-100744600	Weak transcription	Spleen	Spleen
5	chr9:100741200-100744600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:100741400-100744600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr9:100741400-100744600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:100741400-100744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:100741400-100744800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr9:100741800-100744600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr9:100742200-100744600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:100742200-100744600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:100742200-100744600	Enhancers	Fetal Muscle Leg	muscle
14	chr9:100742400-100744600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:100742400-100744600	Enhancers	HSMMtube	muscle
16	chr9:100742600-100744600	Enhancers	Adipose Nuclei	Adipose
17	chr9:100742600-100744800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:100742600-100744800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:100742600-100744800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:100742800-100744600	Weak transcription	Brain Angular Gyrus	brain
21	chr9:100742800-100744600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:100742800-100744600	Enhancers	HMEC	breast
23	chr9:100742800-100744800	Flanking Active TSS	NHEK	skin
24	chr9:100743000-100744600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr9:100743200-100744600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr9:100743200-100744600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:100743200-100745000	Enhancers	Lung	lung
28	chr9:100743400-100744600	Enhancers	Hela-S3	cervix
29	chr9:100743600-100744600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr9:100743600-100744600	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:100743600-100744600	Enhancers	Brain Substantia Nigra	brain
32	chr9:100743600-100744600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:100743600-100744600	Weak transcription	Pancreas	Pancrea
34	chr9:100743600-100744600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:100743600-100744800	Enhancers	Primary hematopoietic stem cells	blood
36	chr9:100743600-100744800	Enhancers	Left Ventricle	heart
37	chr9:100743600-100744800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:100743800-100744600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr9:100743800-100744600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:100743800-100744600	Enhancers	Brain Anterior Caudate	brain
41	chr9:100743800-100744600	Enhancers	Brain Germinal Matrix	brain
42	chr9:100743800-100744600	Enhancers	Colonic Mucosa	Colon
43	chr9:100743800-100744600	Bivalent Enhancer	HepG2	liver
44	chr9:100743800-100744800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:100743800-100744800	Enhancers	Colon Smooth Muscle	Colon
46	chr9:100743800-100745000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:100743800-100745200	Flanking Active TSS	Fetal Thymus	thymus
48	chr9:100744000-100744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:100744000-100744600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:100744000-100744600	Enhancers	Brain Hippocampus Middle	brain

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