Variant report

Variant	esv3424610
Chromosome Location	chr9:98272481-98274629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:555)
CpG islands
(count:184)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:98274275-98275452	K562	blood:	n/a	n/a
2	ARID3A	chr9:98272431-98273341	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:98272823-98273210	K562	blood:	n/a	n/a
4	ATF3	chr9:98272993-98273247	K562	blood:	n/a	chr9:98273103-98273123
5	ATF3	chr9:98272940-98273178	HepG2	liver:	n/a	chr9:98273103-98273123
6	ATF3	chr9:98272905-98273239	H1-hESC	embryonic stem cell:	n/a	chr9:98273103-98273123
7	ATF3	chr9:98272905-98273312	GM12878	blood:	n/a	chr9:98273103-98273123 chr9:98273255-98273264
8	BACH1	chr9:98272441-98273859	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr9:98274199-98274977	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCLAF1	chr9:98273010-98273387	GM12878	blood:	n/a	chr9:98273343-98273356 chr9:98273262-98273275
11	BHLHE40	chr9:98273151-98273428	A549	lung:	n/a	chr9:98273204-98273220
12	BHLHE40	chr9:98273077-98273495	HepG2	liver:	n/a	chr9:98273204-98273220
13	BHLHE40	chr9:98272738-98274452	HepG2	liver:	n/a	chr9:98273204-98273220 chr9:98273841-98273850 chr9:98273841-98273850
14	BHLHE40	chr9:98272876-98275139	K562	blood:	n/a	chr9:98273204-98273220 chr9:98273841-98273850 chr9:98273841-98273850
15	BHLHE40	chr9:98272933-98274287	GM12878	blood:	n/a	chr9:98273204-98273220 chr9:98273841-98273850 chr9:98273841-98273850
16	BRCA1	chr9:98273699-98273775	GM12878	blood:	n/a	n/a
17	BRCA1	chr9:98272835-98272840	H1-hESC	embryonic stem cell:	n/a	n/a
18	CBX3	chr9:98273432-98274046	K562	blood:	n/a	n/a
19	CBX3	chr9:98273739-98274171	K562	blood:	n/a	n/a
20	CCNT2	chr9:98272941-98273861	K562	blood:	n/a	chr9:98273676-98273685
21	CEBPB	chr9:98272989-98273704	Hela-S3	cervix:	n/a	n/a
22	CEBPD	chr9:98273540-98273758	HepG2	liver:	n/a	n/a
23	CEBPD	chr9:98273285-98273537	HepG2	liver:	n/a	n/a
24	CHD1	chr9:98274390-98274450	GM12878	blood:	n/a	n/a
25	CHD1	chr9:98272637-98273362	GM12878	blood:	n/a	n/a
26	CHD1	chr9:98266325-98275163	IMR90	lung:	n/a	chr9:98271086-98271096 chr9:98274530-98274540
27	CHD1	chr9:98272391-98273040	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr9:98272608-98272785	K562	blood:	n/a	n/a
29	CHD2	chr9:98273047-98273234	HepG2	liver:	n/a	n/a
30	CHD2	chr9:98273195-98273813	K562	blood:	n/a	n/a
31	CHD2	chr9:98272617-98272824	HepG2	liver:	n/a	n/a
32	CHD2	chr9:98272931-98274024	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr9:98272554-98273996	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr9:98272860-98273986	GM12878	blood:	n/a	n/a
35	CHD2	chr9:98273524-98273819	HepG2	liver:	n/a	n/a
36	CHD2	chr9:98274546-98274619	K562	blood:	n/a	n/a
37	CREB1	chr9:98272828-98273971	HepG2	liver:	n/a	n/a
38	CREB1	chr9:98272910-98273651	A549	lung:	n/a	n/a
39	CTBP2	chr9:98273002-98273895	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTBP2	chr9:98274353-98274977	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr9:98272780-98272930	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr9:98273120-98273270	GM12871	blood:	n/a	n/a
43	CTCF	chr9:98272757-98273144	K562	blood:	n/a	n/a
44	CTCF	chr9:98273260-98273410	AG04449	skin:	n/a	n/a
45	CTCF	chr9:98274419-98274619	K562	blood:	n/a	n/a
46	CUX1	chr9:98273769-98273953	GM12878	blood:	n/a	n/a
47	CUX1	chr9:98272651-98272851	GM12878	blood:	n/a	n/a
48	E2F1	chr9:98272970-98273989	Hela-S3	cervix:	n/a	chr9:98273817-98273826 chr9:98273343-98273352 chr9:98273266-98273275
49	E2F4	chr9:98273642-98273963	GM12878	blood:	n/a	chr9:98273817-98273826
50	E2F4	chr9:98272987-98273988	K562	blood:	n/a	chr9:98273817-98273826 chr9:98273343-98273352 chr9:98273266-98273275

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:98273907-98273957	PANC-1	pancreas:	n/a
2	chr9:98273907-98273957	PANC-1	pancreas:	n/a
3	chr9:98272731-98272781	HCM	heart:	n/a
4	chr9:98273907-98273957	HMEC	breast:	n/a
5	chr9:98273349-98273399	SK-N-SH	brain:	n/a
6	chr9:98273349-98273399	HMEC	breast:	n/a
7	chr9:98273907-98273957	SK-N-MC	brain:	n/a
8	chr9:98272731-98272781	HAEpiC	amniotic membrane:	n/a
9	chr9:98273349-98273399	HEK293	kidney:	embryo
10	chr9:98273349-98273399	RPTEC	kidney:	n/a
11	chr9:98272731-98272781	NT2-D1	testis:	n/a
12	chr9:98273349-98273399	NB4	blood:	n/a
13	chr9:98273349-98273399	HEEpiC	esophagus:	n/a
14	chr9:98272731-98272781	HNPCEpiC	eye:	n/a
15	chr9:98272731-98272781	PFSK-1	brain:	n/a
16	chr9:98272731-98272781	IMR90	lung:	fetal
17	chr9:98273349-98273399	NH-A	brain:	n/a
18	chr9:98273349-98273399	AG09319	gingival:	n/a
19	chr9:98272731-98272781	HL-60	blood:	n/a
20	chr9:98272731-98272781	MCF-7	breast:	n/a
21	chr9:98273349-98273399	HAEpiC	amniotic membrane:	n/a
22	chr9:98273349-98273399	U87	brain:	n/a
23	chr9:98273349-98273399	AG04450	lung:	fetal
24	chr9:98272731-98272781	ovcar-3	ovarian:	n/a
25	chr9:98273349-98273399	HL-60	blood:	n/a
26	chr9:98273907-98273957	BE2_C	brain:	n/a
27	chr9:98273907-98273957	H1-hESC	embryonic stem cell:	embryo
28	chr9:98273349-98273399	ovcar-3	ovarian:	n/a
29	chr9:98273349-98273399	GM06990	blood:	n/a
30	chr9:98273907-98273957	HCM	heart:	n/a
31	chr9:98272731-98272781	HEEpiC	esophagus:	n/a
32	chr9:98273907-98273957	GM12892	blood:	n/a
33	chr9:98273349-98273399	HCT-116	colon:	n/a
34	chr9:98273907-98273957	HEEpiC	esophagus:	n/a
35	chr9:98273349-98273399	PANC-1	pancreas:	n/a
36	chr9:98272731-98272781	HCPEpiC	choroid plexus:	n/a
37	chr9:98273907-98273957	NH-A	brain:	n/a
38	chr9:98272731-98272781	BE2_C	brain:	n/a
39	chr9:98273907-98273957	AG04450	lung:	fetal
40	chr9:98273349-98273399	MCF-7	breast:	n/a
41	chr9:98272731-98272781	SK-N-MC	brain:	n/a
42	chr9:98272731-98272781	AoSMC	blood vessel:	n/a
43	chr9:98272731-98272781	HIPEpiC	eye:	n/a
44	chr9:98272731-98272781	GM12891	blood:	n/a
45	chr9:98273349-98273399	SK-N-MC	brain:	n/a
46	chr9:98272731-98272781	NB4	blood:	n/a
47	chr9:98273907-98273957	HIPEpiC	eye:	n/a
48	chr9:98273907-98273957	Caco-2	colon:	n/a
49	chr9:98273907-98273957	SKMC	muscle:	n/a
50	chr9:98273907-98273957	NHBE	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr9:98078136..98081236-chr9:98271605..98275803,7	K562	blood:
2	chr9:98272232..98274861-chr9:98331837..98334312,2	MCF-7	breast:
3	chr9:98010532..98014660-chr9:98272495..98275814,3	K562	blood:
4	chr9:98265986..98270733-chr9:98272060..98274665,7	MCF-7	breast:
5	chr12:48147118..48147716-chr9:98273193..98273921,2	Hela-S3	cervix:
6	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:
7	chr9:98273168..98275933-chr9:98636308..98638563,3	K562	blood:
8	chr9:98187721..98190114-chr9:98271481..98273732,2	MCF-7	breast:
9	chr9:98184245..98186249-chr9:98271181..98273183,2	K562	blood:
10	chr9:98192901..98194795-chr9:98272389..98274432,2	K562	blood:
11	chr9:98262143..98268122-chr9:98269863..98275996,9	MCF-7	breast:
12	chr9:98218003..98222058-chr9:98271885..98274474,3	K562	blood:
13	chr9:98073533..98075085-chr9:98273778..98276270,2	K562	blood:
14	chr9:98255343..98257866-chr9:98273112..98275130,2	K562	blood:
15	chr9:98268284..98270797-chr9:98272240..98274371,3	MCF-7	breast:
16	chr9:98227014..98229023-chr9:98271434..98274318,2	MCF-7	breast:
17	chr9:98256366..98258410-chr9:98271924..98274612,2	K562	blood:
18	chr9:98104888..98106927-chr9:98272777..98274676,2	MCF-7	breast:
19	chr3:38206679..38207231-chr9:98273294..98273922,2	Hela-S3	cervix:
20	chr9:98273303..98273822-chrX:153598030..153598632,2	NB4	blood:
21	chr11:72525497..72526111-chr9:98273232..98274211,2	Hela-S3	cervix:
22	chr9:98271289..98274209-chr9:98357697..98360375,2	MCF-7	breast:
23	chr9:98271476..98273669-chr9:98979149..98980872,2	MCF-7	breast:
24	chr9:98143874..98147656-chr9:98271045..98275159,6	MCF-7	breast:
25	chr9:98078212..98082706-chr9:98271985..98275473,10	K562	blood:
26	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:
27	chr9:98079077..98082863-chr9:98272048..98274634,4	MCF-7	breast:
28	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
29	chr9:98272365..98275151-chr9:98293260..98296891,4	K562	blood:
30	chr9:98270649..98275167-chr9:98636318..98639773,5	MCF-7	breast:
31	chr15:63609094..63609614-chr9:98273105..98273661,2	HCT-116	colon:
32	chr9:98103672..98105349-chr9:98272991..98274766,2	K562	blood:
33	chr9:98274022..98276017-chr9:99178559..99180627,2	K562	blood:
34	chr9:98184189..98187188-chr9:98271024..98273730,2	K562	blood:
35	chr9:98172380..98174560-chr9:98273339..98275804,2	K562	blood:
36	chr9:98271686..98274631-chr9:98635342..98639467,4	MCF-7	breast:
37	chr20:43976474..43977178-chr9:98273810..98274710,2	Hela-S3	cervix:
38	chr9:98091823..98093994-chr9:98273200..98274710,2	MCF-7	breast:
39	chr20:33865327..33866128-chr9:98273376..98274360,2	Hela-S3	cervix:
40	chr9:97950616..97952464-chr9:98272435..98274822,2	K562	blood:
41	chr9:98243853..98250190-chr9:98264163..98273969,14	MCF-7	breast:
42	chr9:98253127..98255795-chr9:98271024..98273748,2	K562	blood:
43	chr9:98273384..98275933-chr9:98636308..98638563,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271659	TF binding region
PTCH1	TF binding region
ENSG00000271659	CpG island
PTCH1	CpG island
ENSG00000182150	chromatin interactions
ENSG00000237857	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000172939	chromatin interactions
ENSG00000165244	chromatin interactions
ENSG00000211584	chromatin interactions
ENSG00000271155	chromatin interactions
ENSG00000088298	chromatin interactions
ENSG00000271314	chromatin interactions
ENSG00000126005	chromatin interactions
ENSG00000124145	chromatin interactions
ENSG00000185920	chromatin interactions
ENSG00000175611	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74499984	chr9:98272491-98272492	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs4146985	chr9:98272492-98272493	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs543766575	chr9:98272533-98272534	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs202244606	chr9:98272543-98272544	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs561727873	chr9:98272562-98272563	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs529124984	chr9:98272565-98272566	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs529366422	chr9:98272581-98272582	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs544427070	chr9:98272599-98272600	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs3758302	chr9:98272630-98272631	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533182646	chr9:98272679-98272680	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs550042231	chr9:98272696-98272697	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs552058144	chr9:98272736-98272737	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs559822006	chr9:98272789-98272790	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs200287760	chr9:98272796-98272797	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs567196006	chr9:98272809-98272810	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs374761957	chr9:98272820-98272821	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs116903092	chr9:98272827-98272828	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs549586562	chr9:98272840-98272841	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs185461760	chr9:98272869-98272870	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs189974858	chr9:98272881-98272882	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs537933962	chr9:98272954-98272955	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs555992376	chr9:98272960-98272961	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs571175130	chr9:98273005-98273006	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs538267265	chr9:98273006-98273007	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs143988853	chr9:98273025-98273026	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs533143021	chr9:98273028-98273029	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs553615572	chr9:98273058-98273059	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs571992297	chr9:98273125-98273126	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs181375055	chr9:98273188-98273189	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs554744862	chr9:98273223-98273224	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs569058963	chr9:98273284-98273285	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs142608852	chr9:98273287-98273288	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs145965565	chr9:98273305-98273306	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs562846927	chr9:98273319-98273320	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs533337818	chr9:98273406-98273407	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs545435942	chr9:98273407-98273408	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs148229241	chr9:98273512-98273513	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs527971184	chr9:98273535-98273536	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs28618386	chr9:98273560-98273561	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs28722570	chr9:98273563-98273564	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs541644471	chr9:98273569-98273570	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs377299112	chr9:98273606-98273607	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs567803978	chr9:98273654-98273655	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs185513372	chr9:98273663-98273664	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs549818134	chr9:98273680-98273681	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs571267907	chr9:98273684-98273685	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs538379918	chr9:98273711-98273712	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs546966090	chr9:98273717-98273718	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs565384444	chr9:98273750-98273751	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs28412122	chr9:98273791-98273792	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Basal cell carcinoma	21518781	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98266600-98275000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr9:98267000-98274800	Active TSS	Sigmoid Colon	Sigmoid Colon
3	chr9:98267200-98273600	Active TSS	Right Atrium	heart
4	chr9:98267200-98274000	Active TSS	Fetal Intestine Large	intestine
5	chr9:98267200-98274200	Active TSS	Left Ventricle	heart
6	chr9:98267200-98274400	Active TSS	Ovary	ovary
7	chr9:98267400-98273800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr9:98267400-98273800	Active TSS	Fetal Intestine Small	intestine
9	chr9:98267400-98273800	Active TSS	Fetal Kidney	kidney
10	chr9:98267400-98273800	Active TSS	Small Intestine	intestine
11	chr9:98267400-98274000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr9:98267400-98274400	Active TSS	NHDF-Ad	bronchial
13	chr9:98267400-98274600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:98267400-98274800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:98267600-98274000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr9:98267600-98274000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr9:98267600-98274000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr9:98267600-98274000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:98267600-98274000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:98267600-98274000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:98267600-98274000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr9:98267600-98274000	Active TSS	Psoas Muscle	Psoas
23	chr9:98267600-98274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:98267600-98274400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:98267600-98274400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:98267600-98274600	Active TSS	NHLF	lung
27	chr9:98267600-98274800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:98267800-98273600	Active TSS	Lung	lung
29	chr9:98267800-98273800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:98267800-98273800	Active TSS	Duodenum Mucosa	Duodenum
31	chr9:98267800-98273800	Active TSS	HSMMtube	muscle
32	chr9:98267800-98274000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:98267800-98274000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:98267800-98274000	Active TSS	Placenta Amnion	Placenta Amnion
35	chr9:98267800-98274000	Active TSS	A549	lung
36	chr9:98267800-98274200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr9:98267800-98274200	Active TSS	Aorta	Aorta
38	chr9:98267800-98274200	Active TSS	Brain Cingulate Gyrus	brain
39	chr9:98267800-98274200	Active TSS	Brain Hippocampus Middle	brain
40	chr9:98267800-98274200	Active TSS	Brain Substantia Nigra	brain
41	chr9:98267800-98274200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr9:98267800-98274200	Active TSS	Right Ventricle	heart
43	chr9:98267800-98274400	Active TSS	Pancreas	Pancrea
44	chr9:98267800-98274600	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr9:98267800-98274600	Active TSS	Brain Angular Gyrus	brain
46	chr9:98267800-98274600	Active TSS	Brain Anterior Caudate	brain
47	chr9:98267800-98274600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr9:98267800-98274800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:98267800-98275000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr9:98268000-98273600	Active TSS	Cortex derived primary cultured neurospheres	brain

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