Variant report

Variant	esv3440091
Chromosome Location	chr11:73018929-73021477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:543)
CpG islands
(count:976)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:73020160-73020409	HepG2	liver:	n/a	n/a
2	ATF2	chr11:73018822-73019250	GM12878	blood:	n/a	n/a
3	BACH1	chr11:73019629-73019638	H1-hESC	embryonic stem cell:	n/a	n/a
4	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
5	BCLAF1	chr11:73018774-73019124	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:73018953-73019078	K562	blood:	n/a	n/a
7	BHLHE40	chr11:73018819-73020137	GM12878	blood:	n/a	chr11:73019639-73019655 chr11:73019434-73019450 chr11:73019543-73019559
8	BHLHE40	chr11:73020319-73020447	K562	blood:	n/a	n/a
9	BRCA1	chr11:73020197-73020493	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr11:73019337-73019440	HepG2	liver:	n/a	n/a
11	BRCA1	chr11:73018205-73019167	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr11:73020196-73020378	HepG2	liver:	n/a	n/a
13	BRCA1	chr11:73018907-73019057	HepG2	liver:	n/a	n/a
14	CCNT2	chr11:73019579-73019636	K562	blood:	n/a	n/a
15	CCNT2	chr11:73020136-73020487	K562	blood:	n/a	n/a
16	CCNT2	chr11:73018488-73019206	K562	blood:	n/a	chr11:73018612-73018621
17	CEBPB	chr11:73019541-73019837	A549	lung:	n/a	n/a
18	CEBPB	chr11:73018197-73020491	Hela-S3	cervix:	n/a	n/a
19	CEBPD	chr11:73020100-73020540	HepG2	liver:	n/a	n/a
20	CEBPD	chr11:73018778-73019219	HepG2	liver:	n/a	n/a
21	CEBPD	chr11:73019229-73019746	HepG2	liver:	n/a	n/a
22	CHD1	chr11:73018931-73019587	GM12878	blood:	n/a	n/a
23	CHD1	chr11:73020320-73020507	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr11:73019976-73020481	GM12878	blood:	n/a	n/a
25	CHD1	chr11:73018784-73021132	IMR90	lung:	n/a	n/a
26	CHD2	chr11:73018238-73019865	GM12878	blood:	n/a	chr11:73018776-73018786
27	CHD2	chr11:73020100-73020221	GM12878	blood:	n/a	n/a
28	CHD2	chr11:73018142-73020634	Hela-S3	cervix:	n/a	chr11:73018776-73018786
29	CHD2	chr11:73018959-73019212	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr11:73018882-73019126	HepG2	liver:	n/a	n/a
31	CHD2	chr11:73019470-73020422	HepG2	liver:	n/a	n/a
32	CREB1	chr11:73020100-73020634	A549	lung:	n/a	n/a
33	CREB1	chr11:73018756-73020091	A549	lung:	n/a	n/a
34	CTBP2	chr11:73018099-73019005	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr11:73019692-73021072	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:73017990-73018940	HCT-116	colon:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
37	CTCF	chr11:73018969-73019000	GM10266	blood:	n/a	n/a
38	CTCF	chr11:73019140-73019290	HMEC	breast:	n/a	n/a
39	CTCF	chr11:73018902-73019059	GM12892	blood:	n/a	n/a
40	CTCF	chr11:73019060-73019210	Caco-2	colon:	n/a	n/a
41	CTCF	chr11:73017619-73020165	SK-N-SH	brain:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505 chr11:73019470-73019483
42	CTCF	chr11:73017544-73019354	A549	lung:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
43	CTCF	chr11:73019070-73019098	GM12891	blood:	n/a	n/a
44	CTCF	chr11:73018963-73018981	GM19239	blood:	n/a	n/a
45	CTCF	chr11:73018840-73018990	GM12868	blood:	n/a	n/a
46	CTCF	chr11:73018256-73019050	GM12878	blood:	n/a	chr11:73018482-73018500 chr11:73018485-73018498 chr11:73018483-73018499 chr11:73018765-73018778 chr11:73018484-73018505
47	CTCF	chr11:73018840-73018990	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr11:73020240-73020390	AG04449	skin:	n/a	n/a
49	CTCF	chr11:73018840-73018990	K562	blood:	n/a	n/a
50	CTCF	chr11:73018939-73018958	GM19239	blood:	n/a	n/a

(count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73019558-73019608	ECC-1	luminal epithelium:	n/a
2	chr11:73019337-73019387	ProgFib	skin:	n/a
3	chr11:73019505-73019555	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:73019337-73019387	BJ	skin:	n/a
5	chr11:73019481-73019531	SK-N-SH_RA	brain:	n/a
6	chr11:73021145-73021195	HEK293	kidney:	embryo
7	chr11:73019527-73019577	ECC-1	luminal epithelium:	n/a
8	chr11:73021145-73021195	NT2-D1	testis:	n/a
9	chr11:73021274-73021324	ovcar-3	ovarian:	n/a
10	chr11:73019481-73019531	PFSK-1	brain:	n/a
11	chr11:73021145-73021195	MCF10A-Er-Src	breast:	n/a
12	chr11:73019481-73019531	RPTEC	kidney:	n/a
13	chr11:73019501-73019551	RPTEC	kidney:	n/a
14	chr11:73019002-73019052	HRCEpiC	kidney:	n/a
15	chr11:73019558-73019608	NT2-D1	testis:	n/a
16	chr11:73019501-73019551	HCM	heart:	n/a
17	chr11:73020459-73020509	SKMC	muscle:	n/a
18	chr11:73021145-73021195	PANC-1	pancreas:	n/a
19	chr11:73019002-73019052	NB4	blood:	n/a
20	chr11:73019505-73019555	HCT-116	colon:	n/a
21	chr11:73019558-73019608	BE2_C	brain:	n/a
22	chr11:73019558-73019608	HEEpiC	esophagus:	n/a
23	chr11:73019558-73019608	BJ	skin:	n/a
24	chr11:73020358-73020408	BE2_C	brain:	n/a
25	chr11:73020459-73020509	Caco-2	colon:	n/a
26	chr11:73019527-73019577	GM06990	blood:	n/a
27	chr11:73019501-73019551	NB4	blood:	n/a
28	chr11:73021274-73021324	NHBE	bronchial:	n/a
29	chr11:73020729-73020779	HepG2	liver:	n/a
30	chr11:73019558-73019608	NHBE	bronchial:	n/a
31	chr11:73019002-73019052	HMEC	breast:	n/a
32	chr11:73019002-73019052	NHBE	bronchial:	n/a
33	chr11:73019501-73019551	BE2_C	brain:	n/a
34	chr11:73019496-73019546	LNCaP	prostate:	n/a
35	chr11:73019501-73019551	HUVEC	blood vessel:	n/a
36	chr11:73021274-73021324	Hela-S3	cervix:	n/a
37	chr11:73019496-73019546	PFSK-1	brain:	n/a
38	chr11:73019527-73019577	PrEC	prostate:	n/a
39	chr11:73019505-73019555	ovcar-3	ovarian:	n/a
40	chr11:73020729-73020779	HL-60	blood:	n/a
41	chr11:73019481-73019531	HEEpiC	esophagus:	n/a
42	chr11:73021145-73021195	HRPEpiC	eye:	n/a
43	chr11:73019337-73019387	Hepatocyte	liver:	n/a
44	chr11:73019558-73019608	GM12892	blood:	n/a
45	chr11:73019337-73019387	GM19239	blood:	n/a
46	chr11:73021145-73021195	A549	lung:	n/a
47	chr11:73020358-73020408	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:73019002-73019052	BJ	skin:	n/a
49	chr11:73020351-73020401	NB4	blood:	n/a
50	chr11:73019677-73019727	HepG2	liver:	n/a

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

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

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

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

No data

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

Extended variants
information (count: 136 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537671763	chr11:73018977-73018978	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
2	rs535135641	chr11:73018990-73018991	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
3	rs372575118	chr11:73019059-73019060	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
4	rs571788983	chr11:73019089-73019090	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
5	rs555949134	chr11:73019112-73019113	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
6	rs148139154	chr11:73019119-73019120	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
7	rs574301870	chr11:73019122-73019123	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
8	rs535040538	chr11:73019129-73019130	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
9	rs11820037	chr11:73019132-73019133	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571774276	chr11:73019165-73019166	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
11	rs540748529	chr11:73019190-73019191	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
12	rs564056414	chr11:73019198-73019199	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
13	rs368098035	chr11:73019212-73019213	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
14	rs577753487	chr11:73019230-73019231	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
15	rs543298488	chr11:73019257-73019258	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
16	rs563551310	chr11:73019274-73019275	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
17	rs529212570	chr11:73019367-73019368	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs543006863	chr11:73019396-73019397	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs58715441	chr11:73019411-73019412	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
20	rs528521359	chr11:73019423-73019424	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs551835757	chr11:73019438-73019439	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
22	rs571692896	chr11:73019472-73019473	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
23	rs141300094	chr11:73019483-73019484	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
24	rs541560548	chr11:73019541-73019542	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
25	rs145032281	chr11:73019577-73019578	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
26	rs111866003	chr11:73019613-73019614	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs567582251	chr11:73019622-73019623	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs369641752	chr11:73019659-73019660	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs376619433	chr11:73019707-73019708	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs554915618	chr11:73019710-73019711	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs112721856	chr11:73019721-73019722	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
32	rs565316992	chr11:73019776-73019777	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
33	rs536607221	chr11:73019869-73019870	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
34	rs116288709	chr11:73019878-73019879	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
35	rs557829737	chr11:73019891-73019892	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
36	rs577666910	chr11:73019959-73019960	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
37	rs190347430	chr11:73019982-73019983	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
38	rs138821110	chr11:73020027-73020028	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
39	rs573952704	chr11:73020034-73020035	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
40	rs542918990	chr11:73020038-73020039	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
41	rs12272360	chr11:73020058-73020059	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528483270	chr11:73020075-73020076	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs200051892	chr11:73020097-73020098	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs199593211	chr11:73020113-73020114	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs545121078	chr11:73020124-73020125	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs565335985	chr11:73020168-73020169	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs530920914	chr11:73020271-73020272	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs551122232	chr11:73020315-73020316	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs369662854	chr11:73020339-73020340	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
50	rs201578972	chr11:73020351-73020352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73017800-73021200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:73018000-73019000	Active TSS	Thymus	Thymus
3	chr11:73018000-73019400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr11:73018000-73019400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:73018000-73019600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:73018000-73021000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:73018200-73019600	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:73018200-73019600	Active TSS	Psoas Muscle	Psoas
9	chr11:73018200-73019800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:73018200-73020200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:73018200-73020600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:73018200-73020800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:73018200-73020800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:73018200-73020800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:73018200-73020800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:73018200-73020800	Active TSS	Ovary	ovary
17	chr11:73018200-73021000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:73018200-73021000	Active TSS	Left Ventricle	heart
19	chr11:73018200-73022200	Active TSS	Aorta	Aorta
20	chr11:73018400-73019000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:73018400-73019000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:73018400-73019000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:73018400-73019000	Active TSS	Brain Germinal Matrix	brain
24	chr11:73018400-73019000	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:73018400-73019000	Active TSS	Right Atrium	heart
26	chr11:73018400-73019000	Active TSS	HMEC	breast
27	chr11:73018400-73019000	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:73018400-73019000	Active TSS	NH-A	brain
29	chr11:73018400-73019200	Active TSS	Fetal Brain Female	brain
30	chr11:73018400-73019200	Active TSS	Fetal Heart	heart
31	chr11:73018400-73019200	Bivalent/Poised TSS	Stomach Mucosa	stomach
32	chr11:73018400-73019400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:73018400-73019400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:73018400-73019400	Active TSS	Brain Hippocampus Middle	brain
35	chr11:73018400-73019400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:73018400-73019400	Active TSS	Colonic Mucosa	Colon
37	chr11:73018400-73019600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:73018400-73019600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:73018400-73019600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:73018400-73019600	Active TSS	Primary T cells from cord blood	blood
41	chr11:73018400-73019600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:73018400-73019600	Active TSS	K562	blood
43	chr11:73018400-73019800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:73018400-73020000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:73018400-73020000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:73018400-73020000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr11:73018400-73020200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:73018400-73020200	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:73018400-73020400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:73018400-73020400	Active TSS	Fetal Intestine Small	intestine

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