Variant report

Variant	esv3328586
Chromosome Location	chr11:47428801-47431349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1000)
CpG islands
(count:490)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1000 , 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	chr11:47429214-47430056	K562	blood:	n/a	n/a
2	ARID3A	chr11:47429520-47430056	HepG2	liver:	n/a	n/a
3	ATF1	chr11:47429418-47430175	K562	blood:	n/a	n/a
4	ATF2	chr11:47429283-47430222	GM12878	blood:	n/a	n/a
5	ATF2	chr11:47429373-47430097	GM12878	blood:	n/a	n/a
6	ATF2	chr11:47429674-47430111	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:47429509-47430163	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr11:47429537-47430134	A549	lung:	n/a	n/a
9	ATF3	chr11:47429549-47430210	A549	lung:	n/a	n/a
10	ATF3	chr11:47429383-47429857	K562	blood:	n/a	n/a
11	ATF3	chr11:47429483-47430092	K562	blood:	n/a	n/a
12	BACH1	chr11:47429224-47429812	K562	blood:	n/a	n/a
13	BACH1	chr11:47429537-47429886	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr11:47429508-47429769	GM12878	blood:	n/a	chr11:47429697-47429707
15	BATF	chr11:47429447-47430112	GM12878	blood:	n/a	chr11:47429697-47429707
16	BCL11A	chr11:47429566-47430094	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
17	BCL3	chr11:47429674-47430140	A549	lung:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
18	BCL3	chr11:47429377-47430130	A549	lung:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
19	BCL3	chr11:47429448-47430172	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
20	BCLAF1	chr11:47428898-47430087	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
21	BCLAF1	chr11:47429370-47430119	K562	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
22	BCLAF1	chr11:47429154-47430274	GM12878	blood:	n/a	chr11:47429958-47429967 chr11:47430195-47430208 chr11:47430201-47430210 chr11:47429913-47429922 chr11:47430196-47430209 chr11:47429941-47429954 chr11:47430198-47430207 chr11:47430195-47430204 chr11:47430193-47430206
23	BCLAF1	chr11:47429476-47430095	K562	blood:	n/a	chr11:47429958-47429967 chr11:47429913-47429922 chr11:47429941-47429954
24	BHLHE40	chr11:47429566-47430179	HepG2	liver:	n/a	chr11:47429762-47429778
25	BHLHE40	chr11:47429201-47430180	K562	blood:	n/a	chr11:47429762-47429778
26	BHLHE40	chr11:47429321-47430213	GM12878	blood:	n/a	chr11:47429762-47429778 chr11:47430193-47430209
27	BHLHE40	chr11:47430532-47430750	K562	blood:	n/a	n/a
28	BRCA1	chr11:47429867-47430097	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr11:47429699-47430095	HepG2	liver:	n/a	n/a
30	BRCA1	chr11:47429426-47429512	GM12878	blood:	n/a	n/a
31	BRCA1	chr11:47429294-47430161	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr11:47429764-47430111	GM12878	blood:	n/a	n/a
33	CBX3	chr11:47429065-47430184	K562	blood:	n/a	n/a
34	CBX3	chr11:47429591-47430088	K562	blood:	n/a	n/a
35	CCNT2	chr11:47429539-47430378	K562	blood:	n/a	chr11:47430027-47430036
36	CEBPB	chr11:47428501-47428801	K562	blood:	n/a	chr11:47428646-47428657
37	CEBPB	chr11:47428458-47428839	H1-hESC	embryonic stem cell:	n/a	chr11:47428646-47428657
38	CEBPB	chr11:47428468-47428832	IMR90	lung:	n/a	chr11:47428646-47428657
39	CEBPB	chr11:47428999-47430120	GM12878	blood:	n/a	chr11:47429411-47429423
40	CEBPB	chr11:47429538-47430008	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr11:47429921-47430112	GM12878	blood:	n/a	n/a
42	CEBPB	chr11:47429591-47430115	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr11:47428484-47428833	A549	lung:	n/a	chr11:47428646-47428657
44	CEBPB	chr11:47429508-47430093	K562	blood:	n/a	n/a
45	CEBPB	chr11:47429620-47430121	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr11:47428464-47428839	HepG2	liver:	n/a	chr11:47428646-47428657
47	CEBPB	chr11:47428450-47428871	K562	blood:	n/a	chr11:47428646-47428657
48	CEBPB	chr11:47428390-47428894	MCF-7	breast:	n/a	chr11:47428646-47428657
49	CEBPB	chr11:47428482-47428811	Hela-S3	cervix:	n/a	chr11:47428646-47428657
50	CEBPB	chr11:47428441-47428861	K562	blood:	n/a	chr11:47428646-47428657

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47429873-47429923	PANC-1	pancreas:	n/a
2	chr11:47429649-47429699	A549	lung:	n/a
3	chr11:47429873-47429923	PANC-1	pancreas:	n/a
4	chr11:47429649-47429699	A549	lung:	n/a
5	chr11:47429873-47429923	Jurkat	blood:	n/a
6	chr11:47430812-47430862	HepG2	liver:	n/a
7	chr11:47430184-47430234	AG04450	lung:	fetal
8	chr11:47430336-47430386	HCF	heart:	n/a
9	chr11:47429649-47429699	ovcar-3	ovarian:	n/a
10	chr11:47430184-47430234	HCM	heart:	n/a
11	chr11:47429873-47429923	LNCaP	prostate:	n/a
12	chr11:47429649-47429699	ProgFib	skin:	n/a
13	chr11:47429944-47429994	PFSK-1	brain:	n/a
14	chr11:47430336-47430386	A549	lung:	n/a
15	chr11:47429944-47429994	ovcar-3	ovarian:	n/a
16	chr11:47429649-47429699	HMEC	breast:	n/a
17	chr11:47429649-47429699	HEK293	kidney:	embryo
18	chr11:47430336-47430386	SK-N-SH_RA	brain:	n/a
19	chr11:47430184-47430234	HNPCEpiC	eye:	n/a
20	chr11:47429939-47429989	HEK293	kidney:	embryo
21	chr11:47430812-47430862	HCT-116	colon:	n/a
22	chr11:47429939-47429989	PrEC	prostate:	n/a
23	chr11:47430812-47430862	AoSMC	blood vessel:	n/a
24	chr11:47429873-47429923	AG04449	skin:	fetal
25	chr11:47430812-47430862	HAEpiC	amniotic membrane:	n/a
26	chr11:47429944-47429994	NH-A	brain:	n/a
27	chr11:47430812-47430862	T-47D	breast:	n/a
28	chr11:47429939-47429989	NHDF-neo	bronchial:	n/a
29	chr11:47429713-47429763	Hela-S3	cervix:	n/a
30	chr11:47430184-47430234	NHBE	bronchial:	n/a
31	chr11:47429713-47429763	SK-N-SH_RA	brain:	n/a
32	chr11:47430812-47430862	LNCaP	prostate:	n/a
33	chr11:47429873-47429923	AoSMC	blood vessel:	n/a
34	chr11:47429873-47429923	HL-60	blood:	n/a
35	chr11:47430184-47430234	HCF	heart:	n/a
36	chr11:47429649-47429699	AG10803	skin:	n/a
37	chr11:47429939-47429989	Hela-S3	cervix:	n/a
38	chr11:47429944-47429994	U87	brain:	n/a
39	chr11:47429649-47429699	HRCEpiC	kidney:	n/a
40	chr11:47429873-47429923	CMK	blood:	n/a
41	chr11:47430812-47430862	IMR90	lung:	fetal
42	chr11:47429873-47429923	IMR90	lung:	fetal
43	chr11:47429873-47429923	HRPEpiC	eye:	n/a
44	chr11:47430812-47430862	SK-N-SH_RA	brain:	n/a
45	chr11:47430184-47430234	IMR90	lung:	fetal
46	chr11:47429944-47429994	HAEpiC	amniotic membrane:	n/a
47	chr11:47430184-47430234	AG09309	skin:	n/a
48	chr11:47429713-47429763	Hepatocyte	liver:	n/a
49	chr11:47429944-47429994	HEK293	kidney:	embryo
50	chr11:47429939-47429989	HAEpiC	amniotic membrane:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47399637..47400552-chr11:47429660..47430192,2	K562	blood:
2	chr11:47197465..47200418-chr11:47428077..47430700,3	K562	blood:
3	chr11:47292200..47292859-chr11:47429308..47429854,2	MCF-7	breast:
4	chr11:47429406..47430356-chr6:108881662..108882226,2	HCT-116	colon:
5	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
6	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
7	chr11:47280550..47281257-chr11:47428956..47429932,2	K562	blood:
8	chr1:28974918..28975540-chr11:47429914..47430569,2	Hela-S3	cervix:
9	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
10	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
11	chr11:47429517..47430375-chr18:3603544..3604176,2	Hela-S3	cervix:
12	chr11:47420444..47424832-chr11:47425633..47430159,5	MCF-7	breast:
13	chr11:47429691..47431699-chr11:47584830..47587245,2	MCF-7	breast:
14	chr11:47429268..47431582-chr20:56284094..56286955,2	MCF-7	breast:
15	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
16	chr11:47427701..47430001-chr11:47598549..47600381,2	K562	blood:
17	chr11:47427968..47429864-chr11:47469091..47470991,2	MCF-7	breast:
18	chr11:47430300..47430981-chr3:160283048..160283883,2	Hela-S3	cervix:
19	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:
20	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
21	chr11:47426650..47429548-chr11:47599829..47602825,2	MCF-7	breast:
22	chr11:47429560..47431457-chr11:47788267..47789854,2	MCF-7	breast:
23	chr11:47198635..47199333-chr11:47429103..47429994,3	K562	blood:
24	chr11:47289845..47291400-chr11:47428671..47431411,2	K562	blood:
25	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
26	chr11:47428130..47431471-chr11:47462803..47464877,5	MCF-7	breast:
27	chr11:47430075..47430624-chrX:153626608..153627108,2	Hela-S3	cervix:
28	chr1:247373611..247374330-chr11:47429734..47430575,2	Hela-S3	cervix:
29	chr11:47429488..47430177-chr12:56367583..56368255,2	HCT-116	colon:
30	chr11:47429863..47430413-chr14:77786891..77787619,2	HCT-116	colon:
31	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPI1-1	chr11:47430503-47430741	ENSG00000255197.1
2	lnc-SPI1-1	chr11:47430503-47430643	ENSG00000255197.1

No data

Variant related genes	Relation type
ENSG00000255197	TF binding region
SLC39A13	TF binding region
ENSG00000255197	CpG island
SLC39A13	CpG island
ENSG00000227671	chromatin interactions
ENSG00000186432	chromatin interactions
ENSG00000110536	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000229320	chromatin interactions
ENSG00000213619	chromatin interactions
ENSG00000100577	chromatin interactions
ENSG00000262001	chromatin interactions
ENSG00000009830	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000165917	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000109920	chromatin interactions
ENSG00000231880	chromatin interactions
ENSG00000256746	chromatin interactions
ENSG00000111540	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000264583	chromatin interactions
ENSG00000149187	chromatin interactions
ENSG00000118689	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000066336	chromatin interactions
ENSG00000123444	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000124225	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532122104	chr11:47428830-47428831	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs560272705	chr11:47428836-47428837	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs146106239	chr11:47428883-47428884	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs552861655	chr11:47428922-47428923	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs569433707	chr11:47428933-47428934	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs531745509	chr11:47429088-47429089	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
7	rs548258668	chr11:47429126-47429127	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs138782826	chr11:47429220-47429221	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs7107726	chr11:47429245-47429246	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs554295470	chr11:47429250-47429251	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs114302626	chr11:47429277-47429278	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs371875884	chr11:47429328-47429329	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs538436067	chr11:47429331-47429332	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs191110963	chr11:47429367-47429368	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs575415730	chr11:47429439-47429440	Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs544218103	chr11:47429680-47429681	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs374885596	chr11:47429684-47429685	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs184747396	chr11:47429734-47429735	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
19	rs571187033	chr11:47429803-47429804	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs574205320	chr11:47429804-47429805	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
21	rs149368018	chr11:47429844-47429845	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
22	rs559794192	chr11:47429869-47429870	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs6485755	chr11:47429870-47429871	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
24	rs546045668	chr11:47429887-47429888	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs200960591	chr11:47429899-47429900	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs7947450	chr11:47429904-47429905	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs548569910	chr11:47429945-47429946	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs538997937	chr11:47429958-47429959	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs527686642	chr11:47429971-47429972	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs547941813	chr11:47430003-47430004	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
31	rs570944802	chr11:47430013-47430014	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
32	rs527650374	chr11:47430111-47430112	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs112370318	chr11:47430130-47430131	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs538845170	chr11:47430189-47430190	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
35	rs552060646	chr11:47430190-47430191	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
36	rs551004316	chr11:47430192-47430193	Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
37	rs569137750	chr11:47430264-47430265	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
38	rs537708632	chr11:47430300-47430301	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
39	rs368337072	chr11:47430346-47430347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
40	rs554433648	chr11:47430363-47430364	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs7937331	chr11:47430458-47430459	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs528026019	chr11:47430509-47430510	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
43	rs533528849	chr11:47430511-47430512	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
44	rs553464748	chr11:47430539-47430540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
45	rs11039225	chr11:47430599-47430600	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs546379531	chr11:47430634-47430635	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
47	rs377706184	chr11:47430641-47430642	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
48	rs576566942	chr11:47430745-47430746	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs542588084	chr11:47430875-47430876	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs189202323	chr11:47430916-47430917	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:546 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47422400-47429000	Weak transcription	Fetal Brain Female	brain
2	chr11:47422600-47429000	Weak transcription	HSMMtube	muscle
3	chr11:47422800-47429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:47422800-47429000	Weak transcription	Brain Angular Gyrus	brain
5	chr11:47428000-47429000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:47428200-47429000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:47428200-47429000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:47428200-47429000	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:47428200-47429200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:47428200-47429600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:47428400-47429000	Enhancers	Adipose Nuclei	Adipose
12	chr11:47428400-47429000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:47428400-47429000	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:47428400-47429000	Enhancers	Left Ventricle	heart
15	chr11:47428400-47429000	Enhancers	Right Atrium	heart
16	chr11:47428400-47429000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:47428400-47429000	Enhancers	HMEC	breast
18	chr11:47428400-47429000	Enhancers	Osteobl	bone
19	chr11:47428400-47429200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:47428400-47429200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:47428400-47429200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:47428400-47429200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:47428400-47429200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:47428400-47429200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:47428400-47429200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:47428400-47429200	Enhancers	Fetal Muscle Leg	muscle
27	chr11:47428400-47429200	Enhancers	Placenta	Placenta
28	chr11:47428400-47429200	Enhancers	Lung	lung
29	chr11:47428400-47429400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:47428400-47429400	Enhancers	Spleen	Spleen
31	chr11:47428400-47429600	Flanking Active TSS	GM12878-XiMat	blood
32	chr11:47428400-47429600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:47428400-47429800	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr11:47428600-47429000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:47428600-47429000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:47428600-47429000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:47428600-47429000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:47428600-47429000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:47428600-47429000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:47428600-47429000	Enhancers	Brain Anterior Caudate	brain
41	chr11:47428600-47429000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:47428600-47429000	Enhancers	Colonic Mucosa	Colon
43	chr11:47428600-47429000	Enhancers	Fetal Heart	heart
44	chr11:47428600-47429000	Enhancers	Fetal Intestine Small	intestine
45	chr11:47428600-47429000	Enhancers	Fetal Stomach	stomach
46	chr11:47428600-47429000	Enhancers	Fetal Thymus	thymus
47	chr11:47428600-47429000	Enhancers	Stomach Mucosa	stomach
48	chr11:47428600-47429000	Enhancers	A549	lung
49	chr11:47428600-47429000	Enhancers	NHDF-Ad	bronchial
50	chr11:47428600-47429000	Enhancers	NHLF	lung

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