Variant report

Variant	esv3436959
Chromosome Location	chr11:67397126-67398424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:808)
CpG islands
(count:306)
Chromatin interactive
region (count:55)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:808 , 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	chr11:67398130-67398331	K562	blood:	n/a	n/a
2	ARID3A	chr11:67398001-67398287	HepG2	liver:	n/a	n/a
3	ATF2	chr11:67396610-67397230	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr11:67396642-67397138	GM12878	blood:	n/a	n/a
5	ATF2	chr11:67397984-67398868	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:67397854-67398940	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:67394920-67397339	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:67397855-67398261	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr11:67397967-67398380	K562	blood:	n/a	n/a
10	BACH1	chr11:67396746-67397159	K562	blood:	n/a	n/a
11	BACH1	chr11:67396762-67397571	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr11:67397817-67398486	A549	lung:	n/a	chr11:67398256-67398265 chr11:67398089-67398102
13	BCLAF1	chr11:67396698-67397206	GM12878	blood:	n/a	n/a
14	BCLAF1	chr11:67397838-67398318	GM12878	blood:	n/a	chr11:67398256-67398265 chr11:67398089-67398102
15	BCLAF1	chr11:67396581-67397187	GM12878	blood:	n/a	chr11:67396585-67396598
16	BHLHE40	chr11:67396711-67397444	GM12878	blood:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
17	BHLHE40	chr11:67397944-67398448	K562	blood:	n/a	n/a
18	BHLHE40	chr11:67396792-67397431	K562	blood:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
19	BHLHE40	chr11:67397941-67398309	GM12878	blood:	n/a	n/a
20	BHLHE40	chr11:67396751-67397277	HepG2	liver:	n/a	chr11:67396987-67397003 chr11:67396878-67396894
21	BRCA1	chr11:67397884-67398061	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr11:67396773-67397240	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr11:67397956-67398351	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr11:67396947-67397168	GM12878	blood:	n/a	n/a
25	CBX3	chr11:67396660-67397551	K562	blood:	n/a	n/a
26	CBX3	chr11:67397773-67398702	K562	blood:	n/a	n/a
27	CCNT2	chr11:67396642-67398557	K562	blood:	n/a	chr11:67397851-67397860
28	CEBPB	chr11:67396702-67397178	GM12878	blood:	n/a	n/a
29	CEBPD	chr11:67397791-67398102	HepG2	liver:	n/a	n/a
30	CEBPD	chr11:67397272-67397534	HepG2	liver:	n/a	n/a
31	CHD1	chr11:67396733-67397410	GM12878	blood:	n/a	n/a
32	CHD2	chr11:67396772-67398412	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr11:67396757-67397460	GM12878	blood:	n/a	n/a
34	CHD2	chr11:67395974-67398733	K562	blood:	n/a	n/a
35	CHD2	chr11:67397908-67398397	HepG2	liver:	n/a	n/a
36	CHD2	chr11:67397287-67397532	HepG2	liver:	n/a	n/a
37	CHD2	chr11:67397929-67398341	GM12878	blood:	n/a	n/a
38	CHD2	chr11:67397870-67398567	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr11:67394547-67397648	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr11:67397751-67398482	A549	lung:	n/a	n/a
41	CREB1	chr11:67396528-67398753	HepG2	liver:	n/a	n/a
42	CREB1	chr11:67396714-67398507	K562	blood:	n/a	n/a
43	CREB1	chr11:67396696-67397318	GM12878	blood:	n/a	n/a
44	CREB1	chr11:67397080-67397723	A549	lung:	n/a	n/a
45	CREB1	chr11:67396410-67398524	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr11:67396707-67397747	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTBP2	chr11:67396364-67397188	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:67398200-67398350	K562	blood:	n/a	chr11:67398240-67398256 chr11:67398242-67398255
49	CTCF	chr11:67397977-67398496	MCF-7	breast:	n/a	chr11:67398240-67398256 chr11:67398242-67398255
50	CTCF	chr11:67398200-67398350	HL-60	blood:	n/a	chr11:67398240-67398256 chr11:67398242-67398255

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67397920-67397970	MCF-7	breast:	n/a
2	chr11:67397920-67397970	MCF-7	breast:	n/a
3	chr11:67398026-67398076	AG09309	skin:	n/a
4	chr11:67397584-67397634	Jurkat	blood:	n/a
5	chr11:67398026-67398076	AG09319	gingival:	n/a
6	chr11:67397595-67397645	AG09309	skin:	n/a
7	chr11:67397920-67397970	SK-N-MC	brain:	n/a
8	chr11:67397595-67397645	Jurkat	blood:	n/a
9	chr11:67397595-67397645	HPAEpiC	pulmonary alveolar:	n/a
10	chr11:67398026-67398076	U87	brain:	n/a
11	chr11:67397584-67397634	T-47D	breast:	n/a
12	chr11:67397414-67397464	HRPEpiC	eye:	n/a
13	chr11:67397414-67397464	HUVEC	blood vessel:	n/a
14	chr11:67397584-67397634	GM12892	blood:	n/a
15	chr11:67397584-67397634	HepG2	liver:	n/a
16	chr11:67397595-67397645	AG04449	skin:	fetal
17	chr11:67397414-67397464	AG04449	skin:	fetal
18	chr11:67398026-67398076	HAEpiC	amniotic membrane:	n/a
19	chr11:67398026-67398076	SK-N-SH	brain:	n/a
20	chr11:67397595-67397645	HAEpiC	amniotic membrane:	n/a
21	chr11:67397920-67397970	NHDF-neo	bronchial:	n/a
22	chr11:67397584-67397634	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:67397414-67397464	HepG2	liver:	n/a
24	chr11:67397920-67397970	GM06990	blood:	n/a
25	chr11:67397920-67397970	HIPEpiC	eye:	n/a
26	chr11:67397584-67397634	AG04449	skin:	fetal
27	chr11:67398026-67398076	HRE	kidney:	n/a
28	chr11:67397920-67397970	HMEC	breast:	n/a
29	chr11:67397920-67397970	Jurkat	blood:	n/a
30	chr11:67397920-67397970	HRE	kidney:	n/a
31	chr11:67397595-67397645	NHDF-neo	bronchial:	n/a
32	chr11:67398026-67398076	HCT-116	colon:	n/a
33	chr11:67397414-67397464	NT2-D1	testis:	n/a
34	chr11:67397595-67397645	HCF	heart:	n/a
35	chr11:67397584-67397634	GM06990	blood:	n/a
36	chr11:67398026-67398076	PANC-1	pancreas:	n/a
37	chr11:67397414-67397464	H1-hESC	embryonic stem cell:	embryo
38	chr11:67397595-67397645	NHBE	bronchial:	n/a
39	chr11:67397595-67397645	HRE	kidney:	n/a
40	chr11:67398026-67398076	AG10803	skin:	n/a
41	chr11:67397584-67397634	NHDF-neo	bronchial:	n/a
42	chr11:67398026-67398076	H1-hESC	embryonic stem cell:	embryo
43	chr11:67397595-67397645	Caco-2	colon:	n/a
44	chr11:67397595-67397645	GM06990	blood:	n/a
45	chr11:67397584-67397634	GM12891	blood:	n/a
46	chr11:67397584-67397634	AoSMC	blood vessel:	n/a
47	chr11:67397920-67397970	SAEC	small airway:	n/a
48	chr11:67397584-67397634	BJ	skin:	n/a
49	chr11:67398026-67398076	HMEC	breast:	n/a
50	chr11:67397584-67397634	K562	blood:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67371375..67376389-chr11:67395488..67399117,10	K562	blood:
2	chr11:67248902..67250580-chr11:67397278..67399388,2	K562	blood:
3	chr11:67397400..67397954-chr3:57582306..57583072,2	Hela-S3	cervix:
4	chr11:67397836..67398344-chr2:38978006..38978555,2	NB4	blood:
5	chr11:67395494..67399201-chr11:67413492..67416311,3	K562	blood:
6	chr11:67398077..67399002-chr17:19665643..19666146,2	MCF-7	breast:
7	chr11:67378665..67384491-chr11:67395408..67398335,5	MCF-7	breast:
8	chr11:67370584..67375680-chr11:67395595..67400853,11	MCF-7	breast:
9	chr11:67308127..67309699-chr11:67395126..67397854,2	K562	blood:
10	chr11:67396956..67399904-chr11:67782060..67783739,2	K562	blood:
11	chr11:67397443..67398199-chr17:45400750..45401429,2	Hela-S3	cervix:
12	chr11:67046781..67048782-chr11:67395418..67397975,2	K562	blood:
13	chr11:67397311..67398283-chr9:98079612..98080233,2	NB4	blood:
14	chr11:66885940..66887950-chr11:67395860..67397869,2	K562	blood:
15	chr11:67397857..67399603-chr17:19654494..19656370,2	MCF-7	breast:
16	chr11:67397312..67398034-chr14:23388440..23388999,2	NB4	blood:
17	chr11:67396464..67397218-chr11:67465404..67466018,2	MCF-7	breast:
18	chr11:67397077..67399431-chr11:67436542..67439337,2	K562	blood:
19	chr11:67397976..67400551-chr11:67412070..67415515,3	MCF-7	breast:
20	chr11:67225796..67227949-chr11:67395542..67397304,2	K562	blood:
21	chr11:67373358..67378331-chr11:67393882..67398214,7	MCF-7	breast:
22	chr11:67396324..67397202-chr11:67407117..67407748,3	MCF-7	breast:
23	chr11:67396543..67400484-chr11:67414425..67419634,5	MCF-7	breast:
24	chr11:67396168..67397948-chr11:67571471..67573438,2	K562	blood:
25	chr11:67397793..67398676-chr17:19669612..19670394,2	MCF-7	breast:
26	chr11:67396434..67397233-chr11:67415377..67416192,2	MCF-7	breast:
27	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
28	chr11:67348847..67353254-chr11:67396059..67399206,10	K562	blood:
29	chr11:67397681..67398229-chr16:4166464..4166983,2	Hela-S3	cervix:
30	chr11:67397170..67397676-chr2:64068288..64068862,2	Hela-S3	cervix:
31	chr11:67380957..67389846-chr11:67394173..67403228,21	K562	blood:
32	chr11:67396772..67397765-chr5:180236385..180237144,2	Hela-S3	cervix:
33	chr11:67395178..67397377-chr6:27100620..27102983,2	K562	blood:
34	chr11:67323486..67326096-chr11:67397731..67399515,2	K562	blood:
35	chr11:67377022..67387637-chr11:67394926..67400114,17	MCF-7	breast:
36	chr11:67140815..67142437-chr11:67396749..67399508,2	MCF-7	breast:
37	chr11:67396418..67397288-chr17:19669617..19670437,3	MCF-7	breast:
38	chr11:67397362..67397956-chr5:132201529..132202269,2	Hela-S3	cervix:
39	chr10:14920177..14922925-chr11:67396775..67398999,2	MCF-7	breast:
40	chr11:67397074..67400069-chr11:67440700..67443508,3	K562	blood:
41	chr11:67395020..67397974-chr11:67571574..67573157,2	MCF-7	breast:
42	chr11:67397789..67400149-chr11:67805854..67808193,2	MCF-7	breast:
43	chr11:67397789..67398746-chr11:67415579..67416141,2	MCF-7	breast:
44	chr11:67140319..67142184-chr11:67395845..67397635,2	MCF-7	breast:
45	chr11:67157781..67159663-chr11:67396161..67398201,2	K562	blood:
46	chr11:67372725..67386378-chr11:67392399..67400639,29	K562	blood:
47	chr11:67395852..67400432-chr11:67404620..67408941,6	K562	blood:
48	chr11:67397884..67398710-chr17:19656962..19657673,2	MCF-7	breast:
49	chr11:67397975..67398776-chr20:4666833..4667540,2	Hela-S3	cervix:
50	chr11:67381470..67382086-chr11:67396612..67397307,2	MCF-7	breast:

No data

Variant related genes	Relation type
NUDT8	TF binding region
ENSG00000255318	TF binding region
NUDT8	CpG island
ENSG00000255318	CpG island
ENSG00000168374	chromatin interactions
ENSG00000255119	chromatin interactions
ENSG00000178852	chromatin interactions
ENSG00000132744	chromatin interactions
ENSG00000167800	chromatin interactions
ENSG00000173020	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000158169	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000132746	chromatin interactions
ENSG00000164404	chromatin interactions
ENSG00000171867	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000173120	chromatin interactions
ENSG00000184224	chromatin interactions
ENSG00000164405	chromatin interactions
ENSG00000084207	chromatin interactions
ENSG00000244152	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000152455	chromatin interactions
ENSG00000269913	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000231793	chromatin interactions
ENSG00000160172	chromatin interactions
ENSG00000237054	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000167792	chromatin interactions
ENSG00000169764	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000263293	chromatin interactions
ENSG00000272853	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574993931	chr11:67397135-67397136	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
2	rs542499120	chr11:67397166-67397167	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
3	rs374696299	chr11:67397186-67397187	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
4	rs561099507	chr11:67397193-67397194	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
5	rs528381170	chr11:67397196-67397197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
6	rs200525526	chr11:67397206-67397207	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
7	rs367738376	chr11:67397212-67397213	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs17851655	chr11:67397251-67397252	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs148457808	chr11:67397290-67397291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
10	rs368421441	chr11:67397292-67397293	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
11	rs34195815	chr11:67397294-67397295	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
12	rs563010514	chr11:67397397-67397398	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
13	rs530174939	chr11:67397551-67397552	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
14	rs548500678	chr11:67397571-67397572	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
15	rs78371233	chr11:67397668-67397669	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	mRNA abundance
16	rs7102670	chr11:67397675-67397676	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs7102800	chr11:67397732-67397733	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs12282749	chr11:67397733-67397734	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184674950	chr11:67397743-67397744	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
20	rs538295818	chr11:67397745-67397746	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
21	rs529826197	chr11:67397875-67397876	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
22	rs373464745	chr11:67397879-67397880	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
23	rs575006748	chr11:67397882-67397883	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
24	rs377336263	chr11:67397892-67397893	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
25	rs536300244	chr11:67397929-67397930	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
26	rs554492201	chr11:67397956-67397957	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
27	rs573024347	chr11:67397972-67397973	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs35362840	chr11:67398009-67398010	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
29	rs189561906	chr11:67398033-67398034	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
30	rs565223334	chr11:67398082-67398083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
31	rs548769901	chr11:67398114-67398115	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
32	rs577199290	chr11:67398178-67398179	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
33	rs570169035	chr11:67398238-67398239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs544624510	chr11:67398255-67398256	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
35	rs562823448	chr11:67398274-67398275	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs548410437	chr11:67398283-67398284	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
37	rs566418897	chr11:67398284-67398285	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs370314953	chr11:67398295-67398296	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs537706666	chr11:67398318-67398319	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs560368685	chr11:67398336-67398337	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs527915900	chr11:67398384-67398385	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67395600-67397200	Enhancers	Fetal Heart	heart
2	chr11:67396000-67397200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:67396000-67398200	Active TSS	Hela-S3	cervix
4	chr11:67396000-67398800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:67396200-67397200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr11:67396200-67397400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:67396400-67397200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:67396400-67397400	Flanking Active TSS	Colonic Mucosa	Colon
9	chr11:67396400-67397400	Flanking Active TSS	HMEC	breast
10	chr11:67396400-67398400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:67396600-67397200	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr11:67396600-67397200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:67396600-67397200	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr11:67396600-67397200	Flanking Active TSS	Stomach Mucosa	stomach
15	chr11:67396600-67397400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr11:67396600-67397400	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:67396600-67397400	Flanking Active TSS	Dnd41	blood
18	chr11:67396600-67398200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:67396600-67398200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:67396600-67398200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:67396600-67398200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:67396600-67398200	Active TSS	Brain Anterior Caudate	brain
23	chr11:67396600-67398400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:67396600-67398400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:67396600-67398400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:67396600-67398400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:67396600-67398400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:67396600-67398400	Active TSS	Rectal Smooth Muscle	rectum
29	chr11:67396600-67398400	Active TSS	NHDF-Ad	bronchial
30	chr11:67396600-67398800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:67396600-67398800	Active TSS	HSMM	muscle
32	chr11:67396800-67397200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:67396800-67397200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr11:67396800-67397200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:67396800-67397200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:67396800-67397200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr11:67396800-67397200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr11:67396800-67397200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:67396800-67397200	Flanking Active TSS	Liver	Liver
40	chr11:67396800-67397200	Enhancers	Fetal Brain Male	brain
41	chr11:67396800-67397200	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr11:67396800-67397200	Active TSS	Fetal Kidney	kidney
43	chr11:67396800-67397200	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr11:67396800-67397200	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr11:67396800-67397200	Flanking Active TSS	Fetal Stomach	stomach
46	chr11:67396800-67397200	Flanking Active TSS	Lung	lung
47	chr11:67396800-67397200	Flanking Active TSS	NHLF	lung
48	chr11:67396800-67397400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:67396800-67397400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:67396800-67397400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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