Variant report

Variant	esv3446927
Chromosome Location	chr12:57823485-57825733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:672)
CpG islands
(count:366)
Chromatin interactive
region (count:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:57824722-57824978	HepG2	liver:	n/a	n/a
2	ATF1	chr12:57824659-57825081	K562	blood:	n/a	chr12:57824814-57824828 chr12:57824835-57824849
3	ATF2	chr12:57824626-57825154	H1-hESC	embryonic stem cell:	n/a	chr12:57824814-57824828 chr12:57824835-57824849
4	ATF2	chr12:57824600-57825045	H1-hESC	embryonic stem cell:	n/a	chr12:57824814-57824828 chr12:57824835-57824849
5	ATF2	chr12:57824608-57825267	GM12878	blood:	n/a	chr12:57824814-57824828 chr12:57825227-57825234 chr12:57824835-57824849
6	ATF3	chr12:57824650-57825171	A549	lung:	n/a	chr12:57824941-57824950
7	BACH1	chr12:57824391-57824434	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:57824751-57825259	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr12:57824957-57825465	K562	blood:	n/a	n/a
10	BCL3	chr12:57824510-57825296	A549	lung:	n/a	chr12:57824631-57824640 chr12:57824802-57824815 chr12:57824900-57824913
11	BCLAF1	chr12:57824640-57825202	K562	blood:	n/a	chr12:57824802-57824815 chr12:57824900-57824913
12	BCLAF1	chr12:57824557-57825228	GM12878	blood:	n/a	chr12:57824631-57824640 chr12:57824802-57824815 chr12:57824900-57824913
13	BCLAF1	chr12:57824667-57825312	GM12878	blood:	n/a	chr12:57824802-57824815 chr12:57824900-57824913
14	BHLHE40	chr12:57824318-57825115	K562	blood:	n/a	chr12:57824797-57824813 chr12:57824381-57824397
15	BHLHE40	chr12:57824457-57824497	A549	lung:	n/a	n/a
16	BHLHE40	chr12:57824284-57825074	HepG2	liver:	n/a	chr12:57824797-57824813 chr12:57824381-57824397
17	BHLHE40	chr12:57824313-57825197	GM12878	blood:	n/a	chr12:57824797-57824813 chr12:57824381-57824397
18	BRCA1	chr12:57824682-57825216	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr12:57824735-57824972	HepG2	liver:	n/a	n/a
20	CBX3	chr12:57824627-57825329	K562	blood:	n/a	n/a
21	CBX3	chr12:57824728-57825116	K562	blood:	n/a	n/a
22	CBX3	chr12:57823495-57824263	K562	blood:	n/a	n/a
23	CCNT2	chr12:57824307-57825275	K562	blood:	n/a	n/a
24	CCNT2	chr12:57823675-57824093	K562	blood:	n/a	n/a
25	CEBPB	chr12:57824759-57824934	HepG2	liver:	n/a	n/a
26	CEBPB	chr12:57824715-57825075	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr12:57824818-57824912	HepG2	liver:	n/a	n/a
28	CEBPB	chr12:57824751-57825003	K562	blood:	n/a	n/a
29	CEBPB	chr12:57824715-57825220	K562	blood:	n/a	n/a
30	CEBPB	chr12:57824788-57824928	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPD	chr12:57824268-57824983	HepG2	liver:	n/a	n/a
32	CHD1	chr12:57823918-57824628	GM12878	blood:	n/a	chr12:57824292-57824302
33	CHD2	chr12:57825404-57825569	K562	blood:	n/a	n/a
34	CHD2	chr12:57824704-57825184	K562	blood:	n/a	n/a
35	CHD2	chr12:57824189-57825100	Hela-S3	cervix:	n/a	chr12:57824292-57824302
36	CHD2	chr12:57824552-57825101	HepG2	liver:	n/a	n/a
37	CHD2	chr12:57824690-57825182	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr12:57824639-57825313	GM12878	blood:	n/a	n/a
39	CREB1	chr12:57824543-57825261	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr12:57824435-57825209	GM12878	blood:	n/a	n/a
41	CREB1	chr12:57824589-57825191	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr12:57824215-57825060	A549	lung:	n/a	n/a
43	CREB1	chr12:57824679-57825036	A549	lung:	n/a	n/a
44	CREB1	chr12:57824414-57825250	GM12878	blood:	n/a	n/a
45	CREB1	chr12:57824507-57825438	K562	blood:	n/a	n/a
46	CREB1	chr12:57824545-57825337	HepG2	liver:	n/a	n/a
47	CREB1	chr12:57824518-57825255	ECC-1	luminal epithelium:	n/a	n/a
48	CREB1	chr12:57824099-57825263	HepG2	liver:	n/a	n/a
49	CREB1	chr12:57824575-57825178	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr12:57824519-57825198	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57824134-57824184	GM12878	blood:	n/a
2	chr12:57824242-57824292	MCF-7	breast:	n/a
3	chr12:57824171-57824221	HCF	heart:	n/a
4	chr12:57824242-57824292	RPTEC	kidney:	n/a
5	chr12:57824889-57824939	K562	blood:	n/a
6	chr12:57824829-57824879	HRE	kidney:	n/a
7	chr12:57824242-57824292	ProgFib	skin:	n/a
8	chr12:57824829-57824879	CMK	blood:	n/a
9	chr12:57824171-57824221	Hepatocyte	liver:	n/a
10	chr12:57824171-57824221	AG10803	skin:	n/a
11	chr12:57824242-57824292	AG04450	lung:	fetal
12	chr12:57824242-57824292	PFSK-1	brain:	n/a
13	chr12:57824171-57824221	SK-N-SH	brain:	n/a
14	chr12:57824242-57824292	Jurkat	blood:	n/a
15	chr12:57824171-57824221	GM12892	blood:	n/a
16	chr12:57824829-57824879	BJ	skin:	n/a
17	chr12:57824322-57824372	A549	lung:	n/a
18	chr12:57824889-57824939	SK-N-SH_RA	brain:	n/a
19	chr12:57824134-57824184	NHDF-neo	bronchial:	n/a
20	chr12:57824134-57824184	HAEpiC	amniotic membrane:	n/a
21	chr12:57824889-57824939	HRE	kidney:	n/a
22	chr12:57824134-57824184	HCPEpiC	choroid plexus:	n/a
23	chr12:57824134-57824184	AG04450	lung:	fetal
24	chr12:57824322-57824372	HCF	heart:	n/a
25	chr12:57824134-57824184	HCM	heart:	n/a
26	chr12:57824322-57824372	CMK	blood:	n/a
27	chr12:57824171-57824221	NB4	blood:	n/a
28	chr12:57824242-57824292	NT2-D1	testis:	n/a
29	chr12:57824322-57824372	HEK293	kidney:	embryo
30	chr12:57824134-57824184	U87	brain:	n/a
31	chr12:57824829-57824879	ProgFib	skin:	n/a
32	chr12:57824889-57824939	GM12892	blood:	n/a
33	chr12:57824134-57824184	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:57824171-57824221	HepG2	liver:	n/a
35	chr12:57824171-57824221	GM19239	blood:	n/a
36	chr12:57824322-57824372	U87	brain:	n/a
37	chr12:57824829-57824879	HL-60	blood:	n/a
38	chr12:57824242-57824292	CMK	blood:	n/a
39	chr12:57824171-57824221	HMEC	breast:	n/a
40	chr12:57824322-57824372	HL-60	blood:	n/a
41	chr12:57824322-57824372	GM12891	blood:	n/a
42	chr12:57824889-57824939	SK-N-SH	brain:	n/a
43	chr12:57824889-57824939	AG09309	skin:	n/a
44	chr12:57824171-57824221	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:57824134-57824184	A549	lung:	n/a
46	chr12:57824242-57824292	U87	brain:	n/a
47	chr12:57824889-57824939	BE2_C	brain:	n/a
48	chr12:57824889-57824939	NHDF-neo	bronchial:	n/a
49	chr12:57824322-57824372	SK-N-SH_RA	brain:	n/a
50	chr12:57824242-57824292	HPAEpiC	pulmonary alveolar:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57823258..57825830-chr12:58164419..58166506,2	MCF-7	breast:
2	chr12:57824494..57826362-chr12:57997412..57999477,2	K562	blood:
3	chr12:26985318..26986140-chr12:57825004..57825517,2	Hela-S3	cervix:
4	chr12:57822102..57825804-chr12:57846903..57851131,6	MCF-7	breast:
5	chr12:57734038..57735691-chr12:57822012..57824605,2	MCF-7	breast:
6	chr12:57808026..57810781-chr12:57822669..57824932,3	MCF-7	breast:
7	chr12:57824670..57825470-chr3:186524136..186524729,2	Hela-S3	cervix:
8	chr12:57824029..57824578-chr12:124086334..124087217,2	Hela-S3	cervix:
9	chr12:57825005..57827571-chr12:57912550..57914471,2	K562	blood:
10	chr12:57824473..57826346-chr12:57880233..57882392,2	MCF-7	breast:
11	chr12:57824492..57825084-chr16:2033914..2034785,2	Hela-S3	cervix:
12	chr12:57822673..57825673-chr12:57914537..57916745,4	K562	blood:
13	chr12:57824538..57825303-chr12:120933529..120934294,2	HCT-116	colon:
14	chr12:57822828..57827240-chr12:57828141..57836129,12	MCF-7	breast:
15	chr12:57824368..57825015-chr5:43484040..43484558,2	Hela-S3	cervix:
16	chr12:57672368..57674775-chr12:57822497..57825097,2	K562	blood:
17	chr12:57734197..57736239-chr12:57824447..57826782,2	K562	blood:
18	chr12:57664699..57666780-chr12:57821580..57823850,2	K562	blood:
19	chr12:57821945..57826454-chr12:57843844..57847049,4	K562	blood:
20	chr12:57675498..57678307-chr12:57822743..57825602,2	MCF-7	breast:
21	chr12:57685797..57688003-chr12:57821497..57823959,2	K562	blood:
22	chr12:57673763..57676749-chr12:57823251..57825200,4	MCF-7	breast:
23	chr12:57822750..57826133-chr12:57852904..57855936,4	K562	blood:
24	chr12:57522726..57524274-chr12:57824100..57825642,2	MCF-7	breast:
25	chr12:57820715..57827591-chr12:57847165..57857509,18	K562	blood:
26	chr12:57824486..57825356-chr9:99417149..99417911,2	Hela-S3	cervix:
27	chr12:57824237..57824971-chrX:11129225..11130112,2	Hela-S3	cervix:
28	chr12:57821945..57831494-chr12:57839441..57852842,32	K562	blood:
29	chr12:57823516..57824494-chr13:103497987..103498911,2	NB4	blood:
30	chr12:57654294..57656088-chr12:57822678..57824554,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INHBC-1	chr12:57824899-57825213	ENSG00000258001
2	lnc-ARHGAP9-2	chr12:57824504-57824577	NONHSAT028907

No data

Variant related genes	Relation type
ENSG00000258001	TF binding region
INHBC	TF binding region
R3HDM2	TF binding region
ENSG00000258001	CpG island
INHBC	CpG island
R3HDM2	CpG island
ENSG00000163918	chromatin interactions
ENSG00000166986	chromatin interactions
ENSG00000201198	chromatin interactions
ENSG00000234129	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000158122	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000123427	chromatin interactions
ENSG00000123104	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000268367	chromatin interactions
ENSG00000175189	chromatin interactions
ENSG00000166888	chromatin interactions
ENSG00000127554	chromatin interactions
ENSG00000134899	chromatin interactions
ENSG00000004961	chromatin interactions
ENSG00000139269	chromatin interactions
ENSG00000111087	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000196408	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000178498	chromatin interactions
ENSG00000037897	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567902304	chr12:57823495-57823496	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs187577873	chr12:57823546-57823547	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs531742229	chr12:57823548-57823549	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs201158679	chr12:57823554-57823555	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs572994925	chr12:57823555-57823556	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs185439017	chr12:57823582-57823583	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs538979053	chr12:57823583-57823584	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs7964492	chr12:57823585-57823586	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556049476	chr12:57823661-57823662	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs79842456	chr12:57823703-57823704	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs555456098	chr12:57823706-57823707	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs574298495	chr12:57823724-57823725	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs192432762	chr12:57823731-57823732	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs563106322	chr12:57823744-57823745	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs533518050	chr12:57823762-57823763	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs545613776	chr12:57823787-57823788	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs560329116	chr12:57823804-57823805	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs527365093	chr12:57823813-57823814	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs548989567	chr12:57823819-57823820	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs114066917	chr12:57823905-57823906	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs531647298	chr12:57823915-57823916	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs372960487	chr12:57823920-57823921	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs375974643	chr12:57823930-57823931	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs571517338	chr12:57823932-57823933	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs538487799	chr12:57823951-57823952	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs183384649	chr12:57823971-57823972	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
27	rs566655060	chr12:57823979-57823980	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs534002164	chr12:57824043-57824044	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs555747408	chr12:57824079-57824080	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs77287500	chr12:57824097-57824098	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs575424475	chr12:57824100-57824101	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs544893133	chr12:57824149-57824150	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs556630547	chr12:57824161-57824162	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs487722	chr12:57824165-57824166	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545652211	chr12:57824205-57824206	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs186634435	chr12:57824229-57824230	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs527401227	chr12:57824257-57824258	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs542321116	chr12:57824276-57824277	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs560947065	chr12:57824510-57824511	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
40	rs531159048	chr12:57824655-57824656	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs549742580	chr12:57824741-57824742	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs571243010	chr12:57824758-57824759	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs532255428	chr12:57824820-57824821	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
44	rs547214367	chr12:57824827-57824828	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs564413725	chr12:57824855-57824856	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs577971162	chr12:57824899-57824900	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
47	rs555693744	chr12:57824911-57824912	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
48	rs77429567	chr12:57824934-57824935	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
49	rs61065660	chr12:57824971-57824972	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
50	rs555533461	chr12:57824974-57824975	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
2	chr12:57770800-57824000	Weak transcription	Gastric	stomach
3	chr12:57795400-57823600	Weak transcription	Aorta	Aorta
4	chr12:57822000-57823600	Enhancers	Fetal Heart	heart
5	chr12:57822000-57823600	Enhancers	Placenta	Placenta
6	chr12:57822400-57823600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:57822600-57823600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:57822600-57823600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr12:57822600-57823600	Enhancers	Liver	Liver
10	chr12:57822800-57823600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:57822800-57823600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:57822800-57823600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:57822800-57823600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:57822800-57823600	Active TSS	Fetal Brain Female	brain
15	chr12:57822800-57823800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:57822800-57823800	Enhancers	Small Intestine	intestine
17	chr12:57823000-57823600	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:57823000-57823600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:57823000-57823600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:57823000-57823600	Enhancers	Brain Angular Gyrus	brain
21	chr12:57823000-57823600	Enhancers	Brain Substantia Nigra	brain
22	chr12:57823000-57824000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:57823000-57824000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr12:57823000-57824000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:57823000-57824200	Flanking Active TSS	K562	blood
26	chr12:57823000-57825200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:57823200-57823600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:57823200-57823600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:57823200-57823600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:57823200-57823600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:57823200-57823600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:57823200-57823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:57823200-57823600	Enhancers	Primary B cells from cord blood	blood
34	chr12:57823200-57823600	Enhancers	Primary hematopoietic stem cells	blood
35	chr12:57823200-57823600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:57823200-57823600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr12:57823200-57823600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr12:57823200-57823600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr12:57823200-57823600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:57823200-57823600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:57823200-57823600	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:57823200-57823600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr12:57823200-57823600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:57823200-57823600	Flanking Active TSS	Colonic Mucosa	Colon
45	chr12:57823200-57823600	Enhancers	Fetal Brain Male	brain
46	chr12:57823200-57823600	Flanking Active TSS	Left Ventricle	heart
47	chr12:57823200-57823600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:57823200-57823600	Flanking Active TSS	NHEK	skin
49	chr12:57823200-57823800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:57823200-57823800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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