Variant report

Variant	esv2757322
Chromosome Location	chr9:19126476-19161145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:994)
CpG islands
(count:184)
Chromatin interactive
region (count:32)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:994 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:19129565-19129966	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:19155329-19156336	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:19142539-19142878	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:19154016-19155012	K562	blood:	n/a	n/a
5	ARID3A	chr9:19151628-19152402	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:19138012-19138391	K562	blood:	n/a	n/a
7	ARID3A	chr9:19154019-19154580	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:19127264-19127726	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:19137484-19137590	K562	blood:	n/a	n/a
10	ATF1	chr9:19154065-19154691	K562	blood:	n/a	n/a
11	ATF2	chr9:19128464-19128720	GM12878	blood:	n/a	n/a
12	ATF2	chr9:19126871-19127725	GM12878	blood:	n/a	n/a
13	ATF2	chr9:19126887-19127266	GM12878	blood:	n/a	n/a
14	ATF2	chr9:19129790-19130332	GM12878	blood:	n/a	n/a
15	ATF3	chr9:19127382-19127679	K562	blood:	n/a	n/a
16	ATF3	chr9:19127439-19127606	GM12878	blood:	n/a	n/a
17	ATF3	chr9:19154140-19154499	K562	blood:	n/a	n/a
18	ATF3	chr9:19154000-19154582	K562	blood:	n/a	n/a
19	ATF3	chr9:19127327-19127661	HepG2	liver:	n/a	n/a
20	ATF3	chr9:19127310-19127776	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr9:19127394-19127634	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr9:19127427-19127709	HepG2	liver:	n/a	n/a
23	BACH1	chr9:19127170-19127647	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr9:19128611-19128947	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr9:19154121-19154594	K562	blood:	n/a	n/a
26	BATF	chr9:19155659-19155992	GM12878	blood:	n/a	n/a
27	BATF	chr9:19129737-19130077	GM12878	blood:	n/a	chr9:19129886-19129897
28	BATF	chr9:19137356-19137513	GM12878	blood:	n/a	n/a
29	BATF	chr9:19153594-19154064	GM12878	blood:	n/a	n/a
30	BATF	chr9:19129722-19130073	GM12878	blood:	n/a	chr9:19129886-19129897
31	BATF	chr9:19153774-19154129	GM12878	blood:	n/a	n/a
32	BCL3	chr9:19129751-19130332	GM12878	blood:	n/a	n/a
33	BCLAF1	chr9:19129937-19130396	GM12878	blood:	n/a	n/a
34	BCLAF1	chr9:19129959-19130301	GM12878	blood:	n/a	n/a
35	BCLAF1	chr9:19126919-19127957	GM12878	blood:	n/a	n/a
36	BHLHE40	chr9:19127397-19127709	HepG2	liver:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
37	BHLHE40	chr9:19128618-19129000	GM12878	blood:	n/a	chr9:19128969-19128985
38	BHLHE40	chr9:19151466-19152206	HepG2	liver:	n/a	n/a
39	BHLHE40	chr9:19129713-19130322	GM12878	blood:	n/a	n/a
40	BHLHE40	chr9:19126637-19126650	GM12878	blood:	n/a	n/a
41	BHLHE40	chr9:19127069-19127972	HepG2	liver:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
42	BHLHE40	chr9:19127045-19128054	GM12878	blood:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
43	BHLHE40	chr9:19127320-19127727	A549	lung:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
44	BHLHE40	chr9:19154069-19154535	HepG2	liver:	n/a	n/a
45	BHLHE40	chr9:19154025-19154770	K562	blood:	n/a	n/a
46	BHLHE40	chr9:19127057-19127851	K562	blood:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
47	BHLHE40	chr9:19127346-19127734	HepG2	liver:	n/a	chr9:19127550-19127563 chr9:19127552-19127561 chr9:19127552-19127561 chr9:19127553-19127562
48	BRCA1	chr9:19127095-19127242	H1-hESC	embryonic stem cell:	n/a	n/a
49	BRCA1	chr9:19128785-19128857	GM12878	blood:	n/a	n/a
50	BRCA1	chr9:19127219-19127831	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:19127549-19127599	SK-N-SH_RA	brain:	n/a
2	chr9:19127549-19127599	SK-N-SH_RA	brain:	n/a
3	chr9:19127549-19127599	NHDF-neo	bronchial:	n/a
4	chr9:19127804-19127854	A549	lung:	n/a
5	chr9:19128801-19128851	U87	brain:	n/a
6	chr9:19127549-19127599	NB4	blood:	n/a
7	chr9:19127549-19127599	HRPEpiC	eye:	n/a
8	chr9:19127804-19127854	K562	blood:	n/a
9	chr9:19128801-19128851	Jurkat	blood:	n/a
10	chr9:19127549-19127599	HEEpiC	esophagus:	n/a
11	chr9:19128801-19128851	HL-60	blood:	n/a
12	chr9:19127804-19127854	T-47D	breast:	n/a
13	chr9:19127804-19127854	HPAEpiC	pulmonary alveolar:	n/a
14	chr9:19127804-19127854	HIPEpiC	eye:	n/a
15	chr9:19128801-19128851	AoSMC	blood vessel:	n/a
16	chr9:19127804-19127854	HEK293	kidney:	embryo
17	chr9:19127549-19127599	BE2_C	brain:	n/a
18	chr9:19127549-19127599	SK-N-SH	brain:	n/a
19	chr9:19127804-19127854	SKMC	muscle:	n/a
20	chr9:19127804-19127854	PFSK-1	brain:	n/a
21	chr9:19128801-19128851	PANC-1	pancreas:	n/a
22	chr9:19127549-19127599	AG09309	skin:	n/a
23	chr9:19128801-19128851	K562	blood:	n/a
24	chr9:19127804-19127854	RPTEC	kidney:	n/a
25	chr9:19127549-19127599	GM12891	blood:	n/a
26	chr9:19127804-19127854	GM12878	blood:	n/a
27	chr9:19128801-19128851	HPAEpiC	pulmonary alveolar:	n/a
28	chr9:19127804-19127854	Jurkat	blood:	n/a
29	chr9:19127549-19127599	AG04450	lung:	fetal
30	chr9:19127549-19127599	Hela-S3	cervix:	n/a
31	chr9:19127804-19127854	HMEC	breast:	n/a
32	chr9:19128801-19128851	HCM	heart:	n/a
33	chr9:19127804-19127854	HL-60	blood:	n/a
34	chr9:19127549-19127599	AoSMC	blood vessel:	n/a
35	chr9:19127804-19127854	CMK	blood:	n/a
36	chr9:19127549-19127599	MCF10A-Er-Src	breast:	n/a
37	chr9:19127804-19127854	HRCEpiC	kidney:	n/a
38	chr9:19127804-19127854	Caco-2	colon:	n/a
39	chr9:19127549-19127599	HL-60	blood:	n/a
40	chr9:19127804-19127854	BE2_C	brain:	n/a
41	chr9:19127804-19127854	SK-N-SH_RA	brain:	n/a
42	chr9:19127804-19127854	U87	brain:	n/a
43	chr9:19127804-19127854	ECC-1	luminal epithelium:	n/a
44	chr9:19127549-19127599	HCPEpiC	choroid plexus:	n/a
45	chr9:19127804-19127854	HCF	heart:	n/a
46	chr9:19127804-19127854	SK-N-SH	brain:	n/a
47	chr9:19127549-19127599	HCT-116	colon:	n/a
48	chr9:19127804-19127854	MCF-7	breast:	n/a
49	chr9:19127549-19127599	BJ	skin:	n/a
50	chr9:19127549-19127599	HNPCEpiC	eye:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:19099736..19104010-chr9:19160277..19165261,5	K562	blood:
2	chr9:19127243..19130101-chr9:19141111..19143785,3	MCF-7	breast:
3	chr9:19128414..19130954-chr9:19155486..19158249,2	MCF-7	breast:
4	chr9:19127602..19130118-chr9:19378923..19381565,2	MCF-7	breast:
5	chr9:19124750..19127643-chr9:19135880..19138915,3	K562	blood:
6	chr9:19144442..19146660-chr9:19150460..19153454,2	MCF-7	breast:
7	chr9:19124716..19129711-chr9:19378738..19382022,6	K562	blood:
8	chr9:19128630..19131218-chr9:19137487..19139302,2	K562	blood:
9	chr9:19126218..19128183-chr9:19129523..19131340,2	MCF-7	breast:
10	chr9:19125987..19127822-chr9:19460752..19462438,2	MCF-7	breast:
11	chr9:19101057..19103224-chr9:19126510..19128425,2	MCF-7	breast:
12	chr9:19152838..19155797-chr9:19158658..19160750,2	K562	blood:
13	chr9:19127558..19129349-chr9:19153384..19155776,2	K562	blood:
14	chr11:62608618..62609197-chr9:19140489..19140989,2	NB4	blood:
15	chr9:19128414..19130954-chr9:19155486..19158249,2	MCF-7	breast:
16	chr9:19152838..19156087-chr9:19159250..19164279,6	K562	blood:
17	chr9:19047688..19050062-chr9:19125989..19129041,3	K562	blood:
18	chr9:19144442..19146660-chr9:19150460..19153454,2	MCF-7	breast:
19	chr9:19128630..19131218-chr9:19137487..19139302,2	K562	blood:
20	chr9:19127609..19129220-chr9:19207374..19210036,2	MCF-7	breast:
21	chr9:19154265..19155997-chr9:19230665..19233527,2	K562	blood:
22	chr9:19126615..19131871-chr9:19228040..19232542,7	MCF-7	breast:
23	chr9:19125942..19127565-chr9:19132248..19135204,2	K562	blood:
24	chr9:19102335..19104420-chr9:19127605..19129443,2	MCF-7	breast:
25	chr9:19126391..19130012-chr9:19228888..19231863,3	MCF-7	breast:
26	chr9:19152838..19155797-chr9:19158658..19160750,2	K562	blood:
27	chr9:19101429..19104985-chr9:19125580..19131342,7	K562	blood:
28	chr9:19152838..19156087-chr9:19159250..19164279,6	K562	blood:
29	chr9:19047624..19049710-chr9:19124952..19127835,2	MCF-7	breast:
30	chr9:19128741..19130939-chr9:19361701..19364444,2	K562	blood:
31	chr9:19126176..19129750-chr9:19144544..19147280,3	K562	blood:
32	chr9:19125652..19127211-chr9:19148540..19150962,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLIN2-1	chr9:19129735-19131269	NONHSAT130327
2	lnc-PLIN2-1	chr9:19149108-19149288	NONHSAT130327

No data

Variant related genes	Relation type
PLIN2	TF binding region
PLIN2	CpG island
ENSG00000147872	chromatin interactions
ENSG00000137145	chromatin interactions
ENSG00000147874	chromatin interactions
ENSG00000231909	chromatin interactions
ENSG00000155876	chromatin interactions
ENSG00000137154	chromatin interactions

Extended variants
information (count: 1754 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1754 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3802335	chr9:19126476-19126477	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564899921	chr9:19126479-19126480	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs558943812	chr9:19126494-19126495	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs182894266	chr9:19126502-19126503	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs565779277	chr9:19126526-19126527	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs375319845	chr9:19126529-19126530	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs187446738	chr9:19126562-19126563	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs3824369	chr9:19126565-19126566	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs113861614	chr9:19126584-19126585	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs191029143	chr9:19126599-19126600	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs113038645	chr9:19126604-19126605	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs556844782	chr9:19126605-19126606	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs556559570	chr9:19126643-19126644	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs577651170	chr9:19126671-19126672	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs538643942	chr9:19126675-19126676	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs553851261	chr9:19126678-19126679	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs372302800	chr9:19126700-19126701	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs182824767	chr9:19126714-19126715	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs187074954	chr9:19126723-19126724	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs574956373	chr9:19126738-19126739	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs574856365	chr9:19126765-19126766	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs576132702	chr9:19126813-19126814	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs192235961	chr9:19126866-19126867	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs184392781	chr9:19126893-19126894	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs532193949	chr9:19126897-19126898	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs547372627	chr9:19126911-19126912	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs369438356	chr9:19126966-19126967	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs529761867	chr9:19126980-19126981	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs189086340	chr9:19126983-19126984	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs567877486	chr9:19127033-19127034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs34415845	chr9:19127037-19127038	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs538040593	chr9:19127046-19127047	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs550106775	chr9:19127089-19127090	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs571560140	chr9:19127138-19127139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs538656432	chr9:19127179-19127180	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs553714689	chr9:19127232-19127233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs375834564	chr9:19127266-19127267	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs536776951	chr9:19127278-19127279	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs554749071	chr9:19127308-19127309	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs72561767	chr9:19127350-19127351	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs543251646	chr9:19127410-19127411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs558896035	chr9:19127446-19127447	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs577171781	chr9:19127456-19127457	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs72561765	chr9:19127481-19127482	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs3808660	chr9:19127489-19127490	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs62560260	chr9:19127506-19127507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs376072592	chr9:19127520-19127521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs541943754	chr9:19127531-19127532	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs563228388	chr9:19127532-19127533	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs531935507	chr9:19127574-19127575	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	21811587	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:941 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19116400-19127000	Weak transcription	Stomach Mucosa	stomach
2	chr9:19117000-19127000	Weak transcription	HSMMtube	muscle
3	chr9:19118000-19126600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:19118400-19126600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:19120600-19126600	Weak transcription	Fetal Brain Female	brain
6	chr9:19121200-19127000	Weak transcription	Brain Angular Gyrus	brain
7	chr9:19121400-19127000	Weak transcription	Brain Anterior Caudate	brain
8	chr9:19121600-19126600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:19121800-19127000	Weak transcription	Aorta	Aorta
10	chr9:19123000-19127000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr9:19123600-19126600	Weak transcription	Fetal Lung	lung
12	chr9:19123600-19126600	Weak transcription	A549	lung
13	chr9:19123600-19126600	Weak transcription	HSMM	muscle
14	chr9:19123600-19126800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:19123800-19126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:19124000-19126600	Transcr. at gene 5' and 3'	Liver	Liver
17	chr9:19124400-19127200	Weak transcription	HMEC	breast
18	chr9:19124800-19126600	Weak transcription	Small Intestine	intestine
19	chr9:19125000-19126600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:19125000-19126600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:19125200-19126800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
22	chr9:19125200-19126800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
23	chr9:19125600-19129000	Active TSS	Right Atrium	heart
24	chr9:19125800-19126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:19126000-19126600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
26	chr9:19126000-19126600	Enhancers	Fetal Heart	heart
27	chr9:19126000-19126800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:19126000-19126800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
29	chr9:19126000-19126800	Flanking Active TSS	GM12878-XiMat	blood
30	chr9:19126000-19127000	Enhancers	Primary hematopoietic stem cells	blood
31	chr9:19126000-19127000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:19126000-19129200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:19126000-19129200	Active TSS	Colonic Mucosa	Colon
34	chr9:19126200-19126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:19126200-19126600	Enhancers	Primary B cells from cord blood	blood
36	chr9:19126200-19126600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr9:19126200-19126600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr9:19126200-19126600	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
39	chr9:19126200-19126600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr9:19126200-19126800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr9:19126200-19126800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr9:19126200-19126800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr9:19126200-19126800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:19126200-19126800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
45	chr9:19126200-19126800	Enhancers	Spleen	Spleen
46	chr9:19126200-19126800	Flanking Active TSS	HUVEC	blood vessel
47	chr9:19126200-19126800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr9:19126200-19127200	Bivalent/Poised TSS	HepG2	liver
49	chr9:19126200-19127800	Active TSS	Pancreas	Pancrea
50	chr9:19126200-19128200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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