Variant report

Variant	nsv533941
Chromosome Location	chr9:22416549-23232146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2289)
CpG islands
(count:306)
Chromatin interactive
region (count:40)
LncRNA
region (count:59)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2289 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:22470036-22470237	HepG2	liver:	n/a	n/a
2	BACH1	chr9:23229853-23230053	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr9:22856119-22856335	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr9:22992923-22993113	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr9:22446601-22447549	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr9:23088956-23089054	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr9:22913650-22913872	GM12878	blood:	n/a	n/a
8	BATF	chr9:22922274-22922624	GM12878	blood:	n/a	n/a
9	BATF	chr9:22922324-22922554	GM12878	blood:	n/a	n/a
10	BCL3	chr9:22913627-22913874	GM12878	blood:	n/a	n/a
11	BCL3	chr9:22595889-22596111	GM12878	blood:	n/a	n/a
12	BCLAF1	chr9:22913614-22913896	GM12878	blood:	n/a	n/a
13	BHLHE40	chr9:22642399-22642402	GM12878	blood:	n/a	n/a
14	BHLHE40	chr9:22470028-22470208	GM12878	blood:	n/a	n/a
15	BHLHE40	chr9:22922390-22922656	GM12878	blood:	n/a	n/a
16	BHLHE40	chr9:22452449-22452715	GM12878	blood:	n/a	n/a
17	BHLHE40	chr9:22912811-22913992	GM12878	blood:	n/a	n/a
18	BHLHE40	chr9:22917384-22917393	GM12878	blood:	n/a	n/a
19	BHLHE40	chr9:22813725-22813875	GM12878	blood:	n/a	n/a
20	BRCA1	chr9:22528539-22528778	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr9:22447786-22447815	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr9:22669815-22669872	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr9:22447348-22447473	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr9:23123612-23123935	HepG2	liver:	n/a	chr9:23123779-23123790
25	CEBPB	chr9:23223330-23223443	HepG2	liver:	n/a	chr9:23223381-23223392
26	CEBPB	chr9:22625550-22625897	A549	lung:	n/a	chr9:22625725-22625736
27	CEBPB	chr9:23155546-23155640	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr9:22766124-22766157	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr9:22642450-22642606	A549	lung:	n/a	chr9:22642528-22642539
30	CEBPB	chr9:22776328-22776436	H1-hESC	embryonic stem cell:	n/a	chr9:22776409-22776418 chr9:22776407-22776418
31	CEBPB	chr9:23184829-23185146	IMR90	lung:	n/a	chr9:23184966-23184977
32	CEBPB	chr9:22776272-22776557	HepG2	liver:	n/a	chr9:22776409-22776418 chr9:22776407-22776418
33	CEBPB	chr9:22683693-22684086	IMR90	lung:	n/a	n/a
34	CEBPB	chr9:23050556-23050912	IMR90	lung:	n/a	n/a
35	CEBPB	chr9:22709513-22709726	A549	lung:	n/a	n/a
36	CEBPB	chr9:22693164-22693367	IMR90	lung:	n/a	n/a
37	CEBPB	chr9:22845556-22845648	IMR90	lung:	n/a	n/a
38	CEBPB	chr9:22549103-22549239	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr9:22447336-22447388	HepG2	liver:	n/a	n/a
40	CEBPB	chr9:22696309-22696578	IMR90	lung:	n/a	chr9:22696461-22696470 chr9:22696459-22696472 chr9:22696461-22696470 chr9:22696461-22696470 chr9:22696459-22696472
41	CEBPB	chr9:22683053-22683457	Hela-S3	cervix:	n/a	chr9:22683166-22683179
42	CEBPB	chr9:23088012-23088022	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr9:23062209-23062528	HepG2	liver:	n/a	chr9:23062351-23062362
44	CEBPB	chr9:23184816-23185134	A549	lung:	n/a	chr9:23184966-23184977
45	CEBPB	chr9:23041875-23042125	HepG2	liver:	n/a	chr9:23041943-23041960 chr9:23041935-23041946 chr9:23041934-23041947
46	CEBPB	chr9:23050573-23050903	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr9:22463228-22463523	A549	lung:	n/a	n/a
48	CEBPB	chr9:23129361-23129567	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr9:22879790-22879953	IMR90	lung:	n/a	n/a
50	CEBPB	chr9:22696362-22696521	Hela-S3	cervix:	n/a	chr9:22696461-22696470 chr9:22696459-22696472 chr9:22696461-22696470 chr9:22696461-22696470 chr9:22696459-22696472

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:22863277-22863327	AG09319	gingival:	n/a
2	chr9:22863277-22863327	AG09319	gingival:	n/a
3	chr9:22447694-22447744	HAEpiC	amniotic membrane:	n/a
4	chr9:22446830-22446880	H1-hESC	embryonic stem cell:	embryo
5	chr9:22446830-22446880	NB4	blood:	n/a
6	chr9:23089447-23089497	ECC-1	luminal epithelium:	n/a
7	chr9:22447694-22447744	HCF	heart:	n/a
8	chr9:22447694-22447744	K562	blood:	n/a
9	chr9:22447679-22447729	HIPEpiC	eye:	n/a
10	chr9:22447694-22447744	AG04449	skin:	fetal
11	chr9:22863277-22863327	NHBE	bronchial:	n/a
12	chr9:22447694-22447744	NHBE	bronchial:	n/a
13	chr9:23089447-23089497	PrEC	prostate:	n/a
14	chr9:22447679-22447729	H1-hESC	embryonic stem cell:	embryo
15	chr9:22447694-22447744	MCF-7	breast:	n/a
16	chr9:22447694-22447744	ovcar-3	ovarian:	n/a
17	chr9:22446830-22446880	CMK	blood:	n/a
18	chr9:23089447-23089497	HL-60	blood:	n/a
19	chr9:22447679-22447729	IMR90	lung:	fetal
20	chr9:22863277-22863327	PFSK-1	brain:	n/a
21	chr9:22446830-22446880	Jurkat	blood:	n/a
22	chr9:22447694-22447744	HEK293	kidney:	embryo
23	chr9:23089447-23089497	AG09319	gingival:	n/a
24	chr9:22446830-22446880	HEEpiC	esophagus:	n/a
25	chr9:22447679-22447729	SK-N-MC	brain:	n/a
26	chr9:22863277-22863327	GM12892	blood:	n/a
27	chr9:22447694-22447744	GM19239	blood:	n/a
28	chr9:22447694-22447744	HCM	heart:	n/a
29	chr9:22446830-22446880	MCF10A-Er-Src	breast:	n/a
30	chr9:22446830-22446880	HUVEC	blood vessel:	n/a
31	chr9:22863277-22863327	GM19239	blood:	n/a
32	chr9:23089447-23089497	LNCaP	prostate:	n/a
33	chr9:22447679-22447729	NH-A	brain:	n/a
34	chr9:22447694-22447744	NH-A	brain:	n/a
35	chr9:22447694-22447744	SK-N-SH_RA	brain:	n/a
36	chr9:23089447-23089497	HPAEpiC	pulmonary alveolar:	n/a
37	chr9:22863277-22863327	HNPCEpiC	eye:	n/a
38	chr9:22447679-22447729	HMEC	breast:	n/a
39	chr9:23089447-23089497	ovcar-3	ovarian:	n/a
40	chr9:22447679-22447729	GM12878	blood:	n/a
41	chr9:22446830-22446880	ovcar-3	ovarian:	n/a
42	chr9:22446830-22446880	SK-N-SH	brain:	n/a
43	chr9:22447694-22447744	HL-60	blood:	n/a
44	chr9:22446830-22446880	SAEC	small airway:	n/a
45	chr9:22863277-22863327	HPAEpiC	pulmonary alveolar:	n/a
46	chr9:22863277-22863327	AG10803	skin:	n/a
47	chr9:22863277-22863327	PANC-1	pancreas:	n/a
48	chr9:22447679-22447729	U87	brain:	n/a
49	chr9:23089447-23089497	HCT-116	colon:	n/a
50	chr9:22446830-22446880	BJ	skin:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22307010..22307656-chr9:22452126..22452959,2	MCF-7	breast:
2	chr4:146024840..146025360-chr9:23112962..23113488,4	MCF-7	breast:
3	chr9:22306745..22307713-chr9:22451254..22452991,10	MCF-7	breast:
4	chr11:21332888..21333408-chr9:23112962..23113482,2	MCF-7	breast:
5	chr7:2109017..2109524-chr9:22685897..22686685,2	MCF-7	breast:
6	chr9:22302782..22305026-chr9:22452967..22455959,2	MCF-7	breast:
7	chr8:64119199..64121386-chr9:22867154..22869791,2	MCF-7	breast:
8	chr6:106577878..106578397-chr9:23112963..23113482,2	MCF-7	breast:
9	chr11:73470070..73470855-chr9:22831107..22832031,2	MCF-7	breast:
10	chr17:50247132..50248132-chr9:23112463..23113462,2	MCF-7	breast:
11	chr9:23231305..23232959-chr9:23233124..23236027,2	MCF-7	breast:
12	chr15:65596519..65598485-chr9:22707844..22709364,2	MCF-7	breast:
13	chr11:42828883..42829388-chr9:23172788..23173289,2	MCF-7	breast:
14	chr2:192866140..192866660-chr9:23112962..23113482,2	MCF-7	breast:
15	chr9:22307897..22308732-chr9:22452148..22452666,2	MCF-7	breast:
16	chr4:116457976..116458496-chr9:23112963..23113482,2	MCF-7	breast:
17	chr9:22310557..22311090-chr9:22452173..22453079,2	MCF-7	breast:
18	chr9:22307465..22309728-chr9:22452088..22453632,2	MCF-7	breast:
19	chr9:22813272..22814142-chr9:23088887..23089663,2	MCF-7	breast:
20	chr10:14795069..14796069-chr9:23112483..23113483,2	MCF-7	breast:
21	chr9:22445038..22447734-chr9:22449457..22451257,2	MCF-7	breast:
22	chr9:23122908..23123759-chr9:23702615..23703167,2	MCF-7	breast:
23	chr15:65596803..65598452-chr9:22707864..22709364,2	K562	blood:
24	chr9:22446916..22448600-chr9:22452229..22454221,2	MCF-7	breast:
25	chr9:22446916..22448600-chr9:22452229..22454221,2	MCF-7	breast:
26	chr9:22458728..22461056-chr9:22461148..22464605,3	MCF-7	breast:
27	chr9:22813272..22814142-chr9:23088887..23089663,2	MCF-7	breast:
28	chr9:22307986..22308923-chr9:22452329..22453109,4	MCF-7	breast:
29	chr9:22402119..22404171-chr9:22444827..22446805,2	MCF-7	breast:
30	chr9:22308840..22311118-chr9:22450216..22453208,2	MCF-7	breast:
31	chr9:23122886..23123705-chr9:23491931..23492782,5	MCF-7	breast:
32	chr6:133352133..133352653-chr9:23112962..23113483,3	MCF-7	breast:
33	chr16:8047523..8048523-chr9:23112468..23113483,3	MCF-7	breast:
34	chr9:22427036..22429710-chr9:22446028..22448519,3	MCF-7	breast:
35	chr7:36807619..36808639-chr9:23112488..23113483,3	MCF-7	breast:
36	chr5:154575726..154576227-chr9:23112482..23112988,2	MCF-7	breast:
37	chr9:22458728..22461056-chr9:22461148..22464605,3	MCF-7	breast:
38	chr2:31059867..31060868-chr9:23112468..23113488,6	MCF-7	breast:
39	chr14:97951358..97952245-chr9:22442748..22443596,2	MCF-7	breast:
40	chr15:65596780..65597412-chr9:22707344..22708364,4	MCF-7	breast:

(count:59 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-2	chr9:22723308-22723429	ENSG00000234840.1
2	lnc-DMRTA1-10	chr9:22672609-22672712	l_3742_chr9:22664441-22713435_adipose
3	lnc-DMRTA1-1	chr9:22674481-22674642	NONHSAT130443
4	lnc-DMRTA1-18	chr9:23070718-23070974	NONHSAT130455
5	lnc-DMRTA1-1	chr9:22767961-22768315	ENSG00000224549
6	lnc-DMRTA1-16	chr9:22956556-22957737	NONHSAT130453
7	lnc-DMRTA1-20	chr9:23150179-23150778	NONHSAT130458
8	lnc-DMRTA1-21	chr9:23174590-23176863	NONHSAT130459
9	lnc-DMRTA1-16	chr9:22956556-22957737	FPKM1_group_32840_transcript_3
10	lnc-DMRTA1-16	chr9:22961585-22961645	FPKM1_group_32840_transcript_3
11	lnc-DMRTA1-14	chr9:22764211-22764434	NONHSAT130447
12	lnc-DMRTA1-15	chr9:22847494-22847573	NONHSAT130451
13	lnc-DMRTA1-1	chr9:22674434-22674694	NONHSAT130441
14	lnc-DMRTA1-1	chr9:22723308-22723429	NONHSAT130443
15	lnc-DMRTA1-11	chr9:22714322-22715083	NONHSAT130445
16	lnc-DMRTA1-18	chr9:23071107-23071255	NONHSAT130455
17	lnc-DMRTA1-1	chr9:22682469-22683267	NONHSAT130441
18	lnc-DMRTA1-11	chr9:22716040-22716456	NONHSAT130445
19	lnc-DMRTA1-13	chr9:22757174-22757265	NONHSAT130448
20	lnc-DMRTA1-14	chr9:22754997-22755223	NONHSAT130447
21	lnc-DMRTA1-2	chr9:22823251-22824212	ENSG00000234840.1
22	lnc-DMRTA1-2	chr9:22820737-22821597	ENSG00000234840.1
23	lnc-DMRTA1-14	chr9:22759737-22759837	NONHSAT130447
24	lnc-CDKN2B-5	chr9:22636866-22636923	NONHSAT130440
25	lnc-DMRTA1-8	chr9:22521541-22521617	NONHSAT130438
26	lnc-DMRTA1-11	chr9:22715216-22715757	NONHSAT130445
27	lnc-DMRTA1-9	chr9:22602500-22603039	NONHSAT130439
28	lnc-CDKN2B-5	chr9:22651795-22652209	NONHSAT130440
29	lnc-DMRTA1-16	chr9:22961585-22962194	NONHSAT130453
30	lnc-DMRTA1-17	chr9:23021791-23024225	NONHSAT130454
31	lnc-DMRTA1-21	chr9:23173069-23174316	NONHSAT130459
32	lnc-ELAVL2-6	chr9:23135106-23135246	NONHSAT130456
33	lnc-DMRTA1-12	chr9:22728286-22728585	NONHSAT130446
34	lnc-DMRTA1-10	chr9:22664442-22664642	l_3742_chr9:22664441-22713435_adipose
35	lnc-DMRTA1-2	chr9:22687546-22687626	ENSG00000234840.1
36	lnc-DMRTA1-15	chr9:22840524-22841967	NONHSAT130451
37	lnc-DMRTA1-15	chr9:22842077-22844127	NONHSAT130451
38	lnc-DMRTA1-2	chr9:22682469-22682712	ENSG00000234840.1
39	lnc-DMRTA1-13	chr9:22757961-22758315	NONHSAT130448
40	lnc-DMRTA1-1	chr9:22767174-22767265	ENSG00000224549
41	lnc-ELAVL2-6	chr9:23134828-23134944	NONHSAT130456
42	lnc-DMRTA1-1	chr9:22683873-22684083	NONHSAT130441
43	lnc-DMRTA1-1	chr9:22646108-22646877	NONHSAT130441
44	lnc-DMRTA1-1	chr9:22767106-22768486	NONHSAT130449
45	lnc-DMRTA1-2	chr9:22674442-22674642	ENSG00000234840.1
46	lnc-DMRTA1-12	chr9:22725718-22725880	NONHSAT130446
47	lnc-DMRTA1-1	chr9:22687546-22688453	NONHSAT130441
48	lnc-DMRTA1-1	chr9:22682609-22682712	NONHSAT130443
49	lnc-DMRTA1-8	chr9:22532908-22532978	NONHSAT130438
50	lnc-DMRTA1-8	chr9:22535270-22535651	NONHSAT130438

No data

Variant related genes	Relation type
DMRTA1	TF binding region
ENSG00000236739	TF binding region
ENSG00000234840	TF binding region
ENSG00000224549	TF binding region
ENSG00000265572	TF binding region
DMRTA1	CpG island
ENSG00000236739	CpG island
ENSG00000234840	CpG island
ENSG00000224549	CpG island
ENSG00000265572	CpG island
ENSG00000200156	chromatin interactions
ENSG00000176399	chromatin interactions

Extended variants
information (count: 23720 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:23720 , 50 per page) page: 1 2 3 4 5 6 7 ... 475

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545033475	chr9:22416561-22416562	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184845555	chr9:22416602-22416603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577831724	chr9:22416603-22416604	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs540555266	chr9:22416643-22416644	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs17238111	chr9:22416649-22416650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs960751	chr9:22416661-22416662	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548770673	chr9:22416700-22416701	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187348166	chr9:22416736-22416737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9695321	chr9:22416737-22416738	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551059285	chr9:22416785-22416786	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549459304	chr9:22416796-22416797	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367561933	chr9:22416814-22416815	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs75544743	chr9:22416820-22416821	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77846087	chr9:22416840-22416841	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200109480	chr9:22416895-22416896	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540532057	chr9:22416908-22416909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs117607936	chr9:22416940-22416941	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548111426	chr9:22416968-22416969	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs184677304	chr9:22416998-22416999	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs531644406	chr9:22417010-22417011	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7875648	chr9:22417016-22417017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs576572013	chr9:22417048-22417049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs539145326	chr9:22417115-22417116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74963024	chr9:22417149-22417150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189703141	chr9:22417159-22417160	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs7875770	chr9:22417161-22417162	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559967915	chr9:22417166-22417167	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs76227151	chr9:22417212-22417213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192718119	chr9:22417236-22417237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184289802	chr9:22417241-22417242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372391131	chr9:22417263-22417264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77537911	chr9:22417275-22417276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545125652	chr9:22417284-22417285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564720263	chr9:22417340-22417341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76514128	chr9:22417342-22417343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547082300	chr9:22417343-22417344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188453319	chr9:22417356-22417357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78486775	chr9:22417385-22417386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76861046	chr9:22417404-22417405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550370760	chr9:22417459-22417460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570289935	chr9:22417468-22417469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115263734	chr9:22417490-22417491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75375788	chr9:22417513-22417514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181915709	chr9:22417541-22417542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7846900	chr9:22417552-22417553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs111627625	chr9:22417570-22417571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186526571	chr9:22417587-22417588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78280888	chr9:22417596-22417597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542538762	chr9:22417620-22417621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115881179	chr9:22417724-22417725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:169)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	21811587	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1242 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22415800-22416600	Enhancers	NH-A	brain
2	chr9:22415800-22416800	Enhancers	A549	lung
3	chr9:22415800-22417000	Enhancers	HMEC	breast
4	chr9:22415800-22417800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:22415800-22418400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:22416000-22417600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:22416200-22416600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:22416200-22417000	Flanking Active TSS	HUVEC	blood vessel
9	chr9:22416400-22416800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:22416400-22416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:22416400-22417000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:22416400-22417000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:22416400-22417000	Enhancers	Hela-S3	cervix
14	chr9:22416400-22417200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:22416400-22417200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:22416400-22417200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr9:22416400-22417200	Enhancers	HSMM	muscle
18	chr9:22416400-22417600	Enhancers	Osteobl	bone
19	chr9:22416600-22416800	Flanking Active TSS	NH-A	brain
20	chr9:22416600-22417000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:22416600-22417000	Enhancers	Adipose Nuclei	Adipose
22	chr9:22416600-22417000	Enhancers	Liver	Liver
23	chr9:22416600-22417400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:22416600-22417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:22416600-22417600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:22416800-22417000	Enhancers	NH-A	brain
27	chr9:22416800-22417200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:22416800-22417400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr9:22416800-22418400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:22417000-22417200	Flanking Active TSS	NH-A	brain
31	chr9:22417000-22417400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:22417000-22418200	Enhancers	HUVEC	blood vessel
33	chr9:22417000-22422400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:22417000-22425600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr9:22417200-22417800	Enhancers	NH-A	brain
36	chr9:22417200-22418400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:22417200-22422200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:22417400-22422200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:22417400-22422400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:22422000-22422400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:22422200-22422600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:22422200-22422800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr9:22422400-22422800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:22422400-22422800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:22422400-22422800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:22422400-22423200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:22422800-22429400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:22423200-22423400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:22423400-22425600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:22424800-22426000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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