Variant report

Variant	esv3440775
Chromosome Location	chr11:73017529-73020077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:849)
CpG islands
(count:733)
Chromatin interactive
region (count:37)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:73018343-73018570	K562	blood:	n/a	n/a
2	ARID3A	chr11:73018344-73018686	HepG2	liver:	n/a	n/a
3	ATF2	chr11:73018154-73018656	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:73018243-73018635	GM12878	blood:	n/a	n/a
5	ATF2	chr11:73018822-73019250	GM12878	blood:	n/a	n/a
6	ATF3	chr11:73018200-73018748	A549	lung:	n/a	chr11:73018659-73018667
7	ATF3	chr11:73018183-73018711	A549	lung:	n/a	chr11:73018659-73018667
8	BACH1	chr11:73019629-73019638	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr11:73018118-73018717	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr11:73018268-73018584	K562	blood:	n/a	n/a
11	BCL3	chr11:73016791-73017544	A549	lung:	n/a	n/a
12	BCL3	chr11:73018064-73018724	A549	lung:	n/a	n/a
13	BCL3	chr11:73018775-73019880	A549	lung:	n/a	chr11:73019436-73019445 chr11:73019281-73019290 chr11:73019282-73019295 chr11:73019275-73019288 chr11:73019428-73019441 chr11:73019433-73019442 chr11:73019435-73019448
14	BCL3	chr11:73018196-73018897	A549	lung:	n/a	n/a
15	BCL3	chr11:73016984-73017690	A549	lung:	n/a	n/a
16	BCLAF1	chr11:73018774-73019124	GM12878	blood:	n/a	n/a
17	BCLAF1	chr11:73018274-73018745	GM12878	blood:	n/a	n/a
18	BHLHE40	chr11:73018368-73018510	K562	blood:	n/a	n/a
19	BHLHE40	chr11:73018313-73018617	GM12878	blood:	n/a	n/a
20	BHLHE40	chr11:73018819-73020137	GM12878	blood:	n/a	chr11:73019639-73019655 chr11:73019434-73019450 chr11:73019543-73019559
21	BHLHE40	chr11:73018953-73019078	K562	blood:	n/a	n/a
22	BRCA1	chr11:73019337-73019440	HepG2	liver:	n/a	n/a
23	BRCA1	chr11:73018095-73018543	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr11:73018418-73018584	HepG2	liver:	n/a	n/a
25	BRCA1	chr11:73018907-73019057	HepG2	liver:	n/a	n/a
26	BRCA1	chr11:73018412-73018568	GM12878	blood:	n/a	n/a
27	BRCA1	chr11:73018205-73019167	Hela-S3	cervix:	n/a	n/a
28	CBX3	chr11:73018179-73018623	K562	blood:	n/a	n/a
29	CCNT2	chr11:73019579-73019636	K562	blood:	n/a	n/a
30	CCNT2	chr11:73018488-73019206	K562	blood:	n/a	chr11:73018612-73018621
31	CEBPB	chr11:73018185-73018661	IMR90	lung:	n/a	n/a
32	CEBPB	chr11:73018235-73018636	A549	lung:	n/a	n/a
33	CEBPB	chr11:73018088-73018676	A549	lung:	n/a	n/a
34	CEBPB	chr11:73018192-73018634	A549	lung:	n/a	n/a
35	CEBPB	chr11:73018192-73018599	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr11:73019541-73019837	A549	lung:	n/a	n/a
37	CEBPB	chr11:73018097-73018734	ECC-1	luminal epithelium:	n/a	n/a
38	CEBPB	chr11:73018030-73018739	MCF-7	breast:	n/a	n/a
39	CEBPB	chr11:73018271-73018614	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr11:73018261-73018605	HepG2	liver:	n/a	n/a
41	CEBPB	chr11:73018263-73018592	K562	blood:	n/a	n/a
42	CEBPB	chr11:73018251-73018572	K562	blood:	n/a	n/a
43	CEBPB	chr11:73018197-73020491	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr11:73019229-73019746	HepG2	liver:	n/a	n/a
45	CEBPD	chr11:73018778-73019219	HepG2	liver:	n/a	n/a
46	CEBPD	chr11:73018405-73018770	HepG2	liver:	n/a	n/a
47	CHD1	chr11:73019976-73020481	GM12878	blood:	n/a	n/a
48	CHD1	chr11:73018318-73018613	GM12878	blood:	n/a	n/a
49	CHD1	chr11:73018931-73019587	GM12878	blood:	n/a	n/a
50	CHD1	chr11:73017930-73018758	IMR90	lung:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73019527-73019577	GM06990	blood:	n/a
2	chr11:73019527-73019577	GM06990	blood:	n/a
3	chr11:73019496-73019546	NB4	blood:	n/a
4	chr11:73019002-73019052	PrEC	prostate:	n/a
5	chr11:73018312-73018362	PFSK-1	brain:	n/a
6	chr11:73018507-73018557	AG10803	skin:	n/a
7	chr11:73018662-73018712	AG09319	gingival:	n/a
8	chr11:73019481-73019531	ECC-1	luminal epithelium:	n/a
9	chr11:73018507-73018557	ProgFib	skin:	n/a
10	chr11:73018507-73018557	BJ	skin:	n/a
11	chr11:73019558-73019608	NHBE	bronchial:	n/a
12	chr11:73019496-73019546	AG10803	skin:	n/a
13	chr11:73019501-73019551	GM12891	blood:	n/a
14	chr11:73019677-73019727	SK-N-SH_RA	brain:	n/a
15	chr11:73019527-73019577	GM12892	blood:	n/a
16	chr11:73019501-73019551	AG09309	skin:	n/a
17	chr11:73018507-73018557	HCPEpiC	choroid plexus:	n/a
18	chr11:73019677-73019727	HepG2	liver:	n/a
19	chr11:73019002-73019052	MCF10A-Er-Src	breast:	n/a
20	chr11:73019501-73019551	HepG2	liver:	n/a
21	chr11:73019002-73019052	Hela-S3	cervix:	n/a
22	chr11:73019558-73019608	HCM	heart:	n/a
23	chr11:73019496-73019546	HepG2	liver:	n/a
24	chr11:73019527-73019577	HMEC	breast:	n/a
25	chr11:73019337-73019387	GM12878	blood:	n/a
26	chr11:73019677-73019727	HCT-116	colon:	n/a
27	chr11:73019481-73019531	HCPEpiC	choroid plexus:	n/a
28	chr11:73019481-73019531	AG04450	lung:	fetal
29	chr11:73018507-73018557	Caco-2	colon:	n/a
30	chr11:73018507-73018557	A549	lung:	n/a
31	chr11:73018662-73018712	T-47D	breast:	n/a
32	chr11:73019558-73019608	AG04449	skin:	fetal
33	chr11:73019505-73019555	T-47D	breast:	n/a
34	chr11:73019527-73019577	T-47D	breast:	n/a
35	chr11:73019337-73019387	T-47D	breast:	n/a
36	chr11:73018312-73018362	HRPEpiC	eye:	n/a
37	chr11:73018662-73018712	GM19239	blood:	n/a
38	chr11:73019481-73019531	GM12891	blood:	n/a
39	chr11:73019496-73019546	PrEC	prostate:	n/a
40	chr11:73019505-73019555	MCF-7	breast:	n/a
41	chr11:73018507-73018557	PrEC	prostate:	n/a
42	chr11:73019505-73019555	SK-N-SH_RA	brain:	n/a
43	chr11:73018312-73018362	HCT-116	colon:	n/a
44	chr11:73019677-73019727	IMR90	lung:	fetal
45	chr11:73019527-73019577	HepG2	liver:	n/a
46	chr11:73019002-73019052	SK-N-MC	brain:	n/a
47	chr11:73018662-73018712	HIPEpiC	eye:	n/a
48	chr11:73019677-73019727	BJ	skin:	n/a
49	chr11:73019558-73019608	U87	brain:	n/a
50	chr11:73018507-73018557	AoSMC	blood vessel:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73018744..73019319-chr12:12509971..12510495,2	HCT-116	colon:
2	chr11:73019220..73019808-chr7:11012749..11013563,2	HCT-116	colon:
3	chr11:73015113..73017609-chr11:73020294..73023247,4	K562	blood:
4	chr11:72979299..72983458-chr11:73018365..73020880,3	MCF-7	breast:
5	chr11:72925831..72928740-chr11:73018599..73020225,2	MCF-7	breast:
6	chr11:73017965..73019018-chr11:73046229..73047203,8	MCF-7	breast:
7	chr11:73000300..73001112-chr11:73018427..73018969,2	K562	blood:
8	chr11:73018021..73018985-chr11:73071144..73072120,7	MCF-7	breast:
9	chr11:72980434..72984433-chr11:73015744..73020345,4	MCF-7	breast:
10	chr1:71546436..71547329-chr11:73018653..73019398,2	Hela-S3	cervix:
11	chr11:73018081..73018732-chr11:73241033..73241875,2	K562	blood:
12	chr11:73017499..73019012-chr11:73106974..73109687,2	MCF-7	breast:
13	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
14	chr11:73018495..73019103-chr6:43149516..43150071,2	Hela-S3	cervix:
15	chr11:73000325..73002595-chr11:73016904..73019297,2	MCF-7	breast:
16	chr11:73018112..73018964-chr11:73045938..73047172,9	K562	blood:
17	chr11:73017966..73018926-chr11:73046011..73047270,11	MCF-7	breast:
18	chr11:47198019..47198588-chr11:73018989..73019857,2	Hela-S3	cervix:
19	chr11:73006542..73007167-chr11:73016992..73017707,2	MCF-7	breast:
20	chr11:73019886..73020723-chr11:73087359..73088071,2	Hela-S3	cervix:
21	chr1:89149849..89150759-chr11:73018638..73019215,2	NB4	blood:
22	chr11:73018829..73019727-chr17:7137301..7137989,2	Hela-S3	cervix:
23	chr11:73018219..73018909-chr11:73071294..73072092,3	MCF-7	breast:
24	chr11:73018564..73020076-chr11:73087520..73089366,2	K562	blood:
25	chr11:73018036..73019056-chr11:73104373..73105309,6	MCF-7	breast:
26	chr11:73012187..73014199-chr11:73016875..73018746,2	K562	blood:
27	chr11:73008316..73010568-chr11:73017508..73019112,2	MCF-7	breast:
28	chr11:73018458..73018974-chr11:73071154..73071755,2	K562	blood:
29	chr11:73006222..73006797-chr11:73018007..73018967,3	K562	blood:
30	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
31	chr11:73018047..73019003-chr11:73104100..73105328,9	K562	blood:
32	chr11:73017077..73020076-chr11:73086849..73089366,3	K562	blood:
33	chr11:73015582..73020883-chr11:73085250..73090220,9	MCF-7	breast:
34	chr11:73003630..73006401-chr11:73018287..73021432,3	MCF-7	breast:
35	chr11:73006231..73006757-chr11:73018027..73018977,2	MCF-7	breast:
36	chr11:73016708..73020857-chr11:73085853..73088628,6	MCF-7	breast:
37	chr11:72851821..72853715-chr11:73018697..73020407,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM168A-2	chr11:73019717-73020406	ENSG00000257038.1
2	lnc-FAM168A-2	chr11:73018927-73019609	ENSG00000257038.1
3	lnc-FAM168A-2	chr11:73018280-73018601	ENSG00000257038.1

No data

Variant related genes	Relation type
ARHGEF17	TF binding region
ARHGEF17	CpG island
ENSG00000256928	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000257038	chromatin interactions
ENSG00000004975	chromatin interactions
ENSG00000215841	chromatin interactions
ENSG00000106443	chromatin interactions
ENSG00000229956	chromatin interactions
ENSG00000065243	chromatin interactions
ENSG00000137478	chromatin interactions
ENSG00000110237	chromatin interactions
ENSG00000205791	chromatin interactions
ENSG00000054967	chromatin interactions
ENSG00000165714	chromatin interactions
ENSG00000112659	chromatin interactions
ENSG00000132485	chromatin interactions
ENSG00000171631	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188361924	chr11:73017598-73017599	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs374449640	chr11:73017603-73017604	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs191715176	chr11:73017605-73017606	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs372394219	chr11:73017711-73017712	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs541684575	chr11:73017777-73017778	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs184020927	chr11:73017780-73017781	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs578198383	chr11:73017818-73017819	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs200082353	chr11:73017821-73017822	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs371935374	chr11:73017825-73017826	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs564016442	chr11:73017833-73017834	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs189152272	chr11:73017914-73017915	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs562516801	chr11:73017934-73017935	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs386754919	chr11:73017971-73017972	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs1892855	chr11:73017972-73017973	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375611727	chr11:73017979-73017980	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs375817526	chr11:73018044-73018045	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs561482345	chr11:73018068-73018069	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs144944918	chr11:73018091-73018092	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs111813502	chr11:73018125-73018126	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs145879746	chr11:73018129-73018130	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs533267267	chr11:73018141-73018142	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs549872823	chr11:73018145-73018146	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs114452204	chr11:73018161-73018162	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs564537526	chr11:73018174-73018175	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs535514305	chr11:73018207-73018208	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs549488389	chr11:73018226-73018227	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs370921448	chr11:73018232-73018233	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs149002295	chr11:73018256-73018257	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs535181251	chr11:73018287-73018288	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs576425237	chr11:73018322-73018323	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs574348621	chr11:73018323-73018324	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs184947348	chr11:73018348-73018349	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs528581849	chr11:73018356-73018357	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs537769976	chr11:73018361-73018362	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs557394910	chr11:73018377-73018378	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs77127734	chr11:73018413-73018414	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	mRNA abundance
37	rs34709696	chr11:73018430-73018431	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs559588404	chr11:73018456-73018457	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs541467655	chr11:73018487-73018488	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs561448210	chr11:73018492-73018493	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs57132806	chr11:73018508-73018509	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs535322794	chr11:73018546-73018547	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs529942608	chr11:73018547-73018548	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs143010769	chr11:73018583-73018584	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs373448655	chr11:73018595-73018596	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs112115903	chr11:73018628-73018629	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs368354984	chr11:73018808-73018809	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs529300518	chr11:73018841-73018842	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs143785123	chr11:73018846-73018847	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs77535989	chr11:73018914-73018915	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	19153074	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
2	chr11:73006600-73018000	Weak transcription	Right Atrium	heart
3	chr11:73006800-73017600	Weak transcription	Fetal Heart	heart
4	chr11:73007000-73017800	Weak transcription	Osteobl	bone
5	chr11:73008200-73017800	Weak transcription	Right Ventricle	heart
6	chr11:73011800-73017600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:73012400-73017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:73012400-73017800	Weak transcription	HSMMtube	muscle
9	chr11:73016600-73018000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:73016600-73018000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:73016800-73018200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:73017000-73017800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr11:73017000-73018000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:73017000-73018000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr11:73017000-73018000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:73017000-73018200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:73017000-73018800	Enhancers	Spleen	Spleen
18	chr11:73017200-73017800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr11:73017200-73017800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:73017200-73017800	Enhancers	HepG2	liver
21	chr11:73017200-73018000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:73017200-73018000	Enhancers	Primary B cells from cord blood	blood
23	chr11:73017200-73018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:73017200-73018000	Enhancers	Colon Smooth Muscle	Colon
25	chr11:73017200-73018200	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:73017200-73018800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:73017400-73017600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:73017400-73017600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr11:73017400-73017800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
30	chr11:73017400-73018000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:73017400-73018000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:73017400-73018000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:73017400-73018000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr11:73017400-73018000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:73017400-73018000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:73017400-73018000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr11:73017400-73018000	Enhancers	Fetal Intestine Large	intestine
38	chr11:73017400-73018000	Enhancers	Fetal Intestine Small	intestine
39	chr11:73017400-73018000	Enhancers	Fetal Muscle Leg	muscle
40	chr11:73017400-73018000	Enhancers	A549	lung
41	chr11:73017400-73018000	Enhancers	HMEC	breast
42	chr11:73017400-73018000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr11:73017400-73018200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:73017400-73018200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:73017400-73018200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:73017400-73018200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr11:73017400-73018200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:73017400-73018200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:73017400-73018200	Enhancers	Fetal Muscle Trunk	muscle
50	chr11:73017400-73018200	Enhancers	Placenta	Placenta

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