Variant report

Variant	nsv1037357
Chromosome Location	chr11:71162241-71209628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:914)
CpG islands
(count:3053)
Chromatin interactive
region (count:72)
LncRNA
region (count:3)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:71200262-71200721	GM12878	blood:	n/a	n/a
2	BACH1	chr11:71163899-71163977	K562	blood:	n/a	n/a
3	BATF	chr11:71200324-71200707	GM12878	blood:	n/a	chr11:71200539-71200550
4	BCL3	chr11:71195121-71195384	GM12878	blood:	n/a	n/a
5	BCL3	chr11:71195577-71196144	GM12878	blood:	n/a	n/a
6	BCL3	chr11:71164062-71164876	A549	lung:	n/a	chr11:71164307-71164320 chr11:71164436-71164445 chr11:71164439-71164448
7	BCL3	chr11:71195483-71196158	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:71163833-71164054	K562	blood:	n/a	n/a
9	BHLHE40	chr11:71162977-71163210	K562	blood:	n/a	n/a
10	BHLHE40	chr11:71163260-71165062	GM12878	blood:	n/a	n/a
11	BHLHE40	chr11:71200401-71200653	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:71164289-71165095	K562	blood:	n/a	n/a
13	BHLHE40	chr11:71199259-71199455	K562	blood:	n/a	n/a
14	CBX3	chr11:71164123-71164508	K562	blood:	n/a	n/a
15	CBX3	chr11:71180502-71180788	K562	blood:	n/a	n/a
16	CCNT2	chr11:71163988-71164661	K562	blood:	n/a	chr11:71164233-71164242
17	CEBPB	chr11:71192233-71193213	MCF-7	breast:	n/a	chr11:71192672-71192680
18	CEBPB	chr11:71191156-71191339	K562	blood:	n/a	chr11:71191275-71191286
19	CEBPB	chr11:71200388-71200792	IMR90	lung:	n/a	n/a
20	CEBPB	chr11:71162860-71163127	K562	blood:	n/a	n/a
21	CEBPB	chr11:71162765-71163144	K562	blood:	n/a	n/a
22	CEBPB	chr11:71164060-71164284	K562	blood:	n/a	n/a
23	CEBPB	chr11:71163985-71164332	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:71164183-71164192	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr11:71191251-71191309	IMR90	lung:	n/a	chr11:71191275-71191286
26	CEBPB	chr11:71192241-71192924	MCF-7	breast:	n/a	chr11:71192672-71192680
27	CEBPB	chr11:71186718-71186887	HepG2	liver:	n/a	n/a
28	CEBPB	chr11:71191217-71191424	HepG2	liver:	n/a	chr11:71191275-71191286
29	CEBPB	chr11:71162887-71163111	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPD	chr11:71163901-71164404	HepG2	liver:	n/a	n/a
31	CHD1	chr11:71164399-71164643	GM12878	blood:	n/a	n/a
32	CHD1	chr11:71162906-71163387	GM12878	blood:	n/a	n/a
33	CHD2	chr11:71174514-71174525	HepG2	liver:	n/a	n/a
34	CHD2	chr11:71164293-71164442	K562	blood:	n/a	n/a
35	CHD2	chr11:71163739-71163912	GM12878	blood:	n/a	n/a
36	CHD2	chr11:71164290-71164406	HepG2	liver:	n/a	n/a
37	CHD2	chr11:71163748-71164696	Hela-S3	cervix:	n/a	chr11:71164159-71164169
38	CHD2	chr11:71164247-71164370	GM12878	blood:	n/a	n/a
39	CREB1	chr11:71164032-71164417	A549	lung:	n/a	n/a
40	CTCF	chr11:71163900-71164050	HMEC	breast:	n/a	n/a
41	CTCF	chr11:71177473-71177718	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:71165900-71166050	GM12801	blood:	n/a	chr11:71165972-71165985
43	CTCF	chr11:71164354-71164357	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:71164410-71164548	MCF-7	breast:	n/a	n/a
45	CTCF	chr11:71177512-71177720	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:71165882-71166087	GM12892	blood:	n/a	chr11:71165972-71165985
47	CTCF	chr11:71165680-71166200	MCF-7	breast:	n/a	chr11:71165972-71165985
48	CTCF	chr11:71200480-71200630	HRE	kidney:	n/a	n/a
49	CTCF	chr11:71192634-71192637	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:71165976-71166015	K562	blood:	n/a	n/a

(count:3053 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:71209416-71209466	HepG2	liver:	n/a
2	chr11:71165839-71165889	HRCEpiC	kidney:	n/a
3	chr11:71174976-71175026	AG04449	skin:	fetal
4	chr11:71209416-71209466	HepG2	liver:	n/a
5	chr11:71165839-71165889	HRCEpiC	kidney:	n/a
6	chr11:71174976-71175026	AG04449	skin:	fetal
7	chr11:71167505-71167555	PrEC	prostate:	n/a
8	chr11:71187445-71187495	K562	blood:	n/a
9	chr11:71163466-71163516	NHBE	bronchial:	n/a
10	chr11:71164106-71164156	AG10803	skin:	n/a
11	chr11:71189490-71189540	ovcar-3	ovarian:	n/a
12	chr11:71202779-71202829	IMR90	lung:	fetal
13	chr11:71164349-71164399	AG10803	skin:	n/a
14	chr11:71163428-71163478	BE2_C	brain:	n/a
15	chr11:71164283-71164333	ECC-1	luminal epithelium:	n/a
16	chr11:71185116-71185166	HepG2	liver:	n/a
17	chr11:71202779-71202829	H1-hESC	embryonic stem cell:	embryo
18	chr11:71163907-71163957	HNPCEpiC	eye:	n/a
19	chr11:71193499-71193549	AG09319	gingival:	n/a
20	chr11:71202794-71202844	HCM	heart:	n/a
21	chr11:71164349-71164399	HEEpiC	esophagus:	n/a
22	chr11:71196642-71196692	GM12891	blood:	n/a
23	chr11:71164349-71164399	HCT-116	colon:	n/a
24	chr11:71196591-71196641	HRCEpiC	kidney:	n/a
25	chr11:71184503-71184553	AG04450	lung:	fetal
26	chr11:71163907-71163957	GM12892	blood:	n/a
27	chr11:71163528-71163578	GM06990	blood:	n/a
28	chr11:71164106-71164156	GM12891	blood:	n/a
29	chr11:71184503-71184553	PFSK-1	brain:	n/a
30	chr11:71196653-71196703	PFSK-1	brain:	n/a
31	chr11:71189514-71189564	T-47D	breast:	n/a
32	chr11:71189490-71189540	Hela-S3	cervix:	n/a
33	chr11:71201682-71201732	HCM	heart:	n/a
34	chr11:71163466-71163516	GM19239	blood:	n/a
35	chr11:71164112-71164162	AoSMC	blood vessel:	n/a
36	chr11:71164112-71164162	SKMC	muscle:	n/a
37	chr11:71184503-71184553	GM19239	blood:	n/a
38	chr11:71175151-71175201	SAEC	small airway:	n/a
39	chr11:71164106-71164156	HAEpiC	amniotic membrane:	n/a
40	chr11:71201682-71201732	NT2-D1	testis:	n/a
41	chr11:71164349-71164399	IMR90	lung:	fetal
42	chr11:71201682-71201732	AoSMC	blood vessel:	n/a
43	chr11:71187890-71187940	ProgFib	skin:	n/a
44	chr11:71188716-71188766	GM12892	blood:	n/a
45	chr11:71164283-71164333	HCT-116	colon:	n/a
46	chr11:71209518-71209568	HNPCEpiC	eye:	n/a
47	chr11:71202368-71202418	AoSMC	blood vessel:	n/a
48	chr11:71202329-71202379	HAEpiC	amniotic membrane:	n/a
49	chr11:71175151-71175201	NHBE	bronchial:	n/a
50	chr11:71196642-71196692	HCT-116	colon:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:7613542..7614042-chr11:71192235..71192736,2	MCF-7	breast:
2	chr11:70651651..70652560-chr11:71192231..71193089,5	MCF-7	breast:
3	chr11:71164184..71164815-chr17:58469519..58470423,2	MCF-7	breast:
4	chr11:71180625..71183192-chr11:71184485..71186418,2	MCF-7	breast:
5	chr11:71166959..71169196-chr11:71181524..71183295,2	MCF-7	breast:
6	chr11:71186512..71188685-chr11:71191239..71193061,2	K562	blood:
7	chr11:71182002..71184181-chr11:71185465..71188579,3	K562	blood:
8	chr11:71162324..71166430-chr11:71186520..71190924,4	K562	blood:
9	chr11:71198500..71200702-chr11:71204795..71207728,3	MCF-7	breast:
10	chr11:71199654..71202041-chr11:71202100..71204531,2	K562	blood:
11	chr11:71192226..71193095-chr16:88994588..88995116,2	MCF-7	breast:
12	chr11:71168777..71171362-chr11:71186051..71188733,3	MCF-7	breast:
13	chr11:70651550..70653868-chr11:71190955..71193136,3	MCF-7	breast:
14	chr11:71164126..71164763-chr11:71198880..71199776,2	MCF-7	breast:
15	chr11:71191263..71193677-chr11:71202441..71204415,2	MCF-7	breast:
16	chr11:71157940..71161417-chr11:71161465..71165970,9	K562	blood:
17	chr11:71186512..71188685-chr11:71191239..71193061,2	K562	blood:
18	chr11:71177769..71179272-chr11:71180854..71183536,2	K562	blood:
19	chr11:71202765..71205169-chr11:71209024..71211157,2	K562	blood:
20	chr11:71163622..71164449-chr15:73075829..73076683,2	NB4	blood:
21	chr11:71148971..71151338-chr11:71168441..71170765,3	MCF-7	breast:
22	chr11:71133834..71136520-chr11:71167902..71170100,2	K562	blood:
23	chr11:71198072..71200599-chr11:71283906..71285709,2	MCF-7	breast:
24	chr11:71192234..71193164-chr11:71211678..71212297,4	MCF-7	breast:
25	chr11:70606175..70607013-chr11:71192490..71193071,2	MCF-7	breast:
26	chr11:71197542..71205760-chr11:71207868..71214040,12	MCF-7	breast:
27	chr11:69329817..69330348-chr11:71192258..71193060,2	MCF-7	breast:
28	chr11:71188326..71191003-chr11:71198229..71200768,2	K562	blood:
29	chr11:71154436..71156970-chr11:71198755..71201662,2	MCF-7	breast:
30	chr11:71162324..71166430-chr11:71186520..71190924,4	K562	blood:
31	chr11:71164397..71166418-chr11:71178596..71181231,2	K562	blood:
32	chr11:71176676..71180057-chr11:71180223..71183173,4	MCF-7	breast:
33	chr11:71173517..71174399-chr11:71192570..71193116,2	MCF-7	breast:
34	chr11:71162728..71165710-chr11:71209612..71212447,2	K562	blood:
35	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:
36	chr11:71194336..71196595-chr11:71275951..71277679,2	MCF-7	breast:
37	chr11:71169153..71171871-chr15:71407229..71409186,2	MCF-7	breast:
38	chr11:71156500..71159446-chr11:71168763..71171365,2	MCF-7	breast:
39	chr11:71159580..71163175-chr11:71169801..71173356,4	MCF-7	breast:
40	chr11:71171741..71174523-chr11:71191219..71193247,2	MCF-7	breast:
41	chr11:70651704..70652591-chr11:71192201..71193158,4	MCF-7	breast:
42	chr11:71205951..71209347-chr11:71211780..71215363,4	MCF-7	breast:
43	chr11:71200646..71203593-chr11:71212815..71214686,2	K562	blood:
44	chr11:70651704..70652591-chr11:71192192..71193153,8	MCF-7	breast:
45	chr11:71163908..71164465-chr11:71192678..71193270,2	MCF-7	breast:
46	chr11:71197776..71200724-chr11:71214372..71216917,2	MCF-7	breast:
47	chr11:71156877..71159140-chr11:71167265..71169194,2	K562	blood:
48	chr11:71156994..71165841-chr11:71185066..71202614,31	MCF-7	breast:
49	chr11:71166959..71169196-chr11:71181524..71183295,2	MCF-7	breast:
50	chr11:71198148..71200436-chr11:71273726..71275977,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NADSYN1-1	chr11:71162736-71163203	ENSG00000254682.1
2	lnc-NADSYN1-1	chr11:71162736-71164062	NONHSAT022678
3	lnc-NADSYN1-1	chr11:71162736-71163182	XLOC_009199

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6754-5p	chr11:71184554-71184575	MIMAT0027408
hsa-miR-6754-3p	chr11:71184592-71184613	MIMAT0027409

No data

Variant related genes	Relation type
NADSYN1	TF binding region
DHCR7	TF binding region
NADSYN1	CpG island
DHCR7	CpG island
ENSG00000249387	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000162105	chromatin interactions
ENSG00000172893	chromatin interactions
ENSG00000141371	chromatin interactions
ENSG00000172890	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000204572	chromatin interactions
ENSG00000172900	chromatin interactions
ENSG00000254682	chromatin interactions

Extended variants
information (count: 2349 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2349 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114875467	chr11:71162267-71162268	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs534972998	chr11:71162269-71162270	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs558020290	chr11:71162299-71162300	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs553703328	chr11:71162333-71162334	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs139491217	chr11:71162340-71162341	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs536738499	chr11:71162431-71162432	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs568781059	chr11:71162448-71162449	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs76096710	chr11:71162518-71162519	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs190483857	chr11:71162582-71162583	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs559245223	chr11:71162583-71162584	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs577815377	chr11:71162631-71162632	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs575017800	chr11:71162633-71162634	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs563332311	chr11:71162674-71162675	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs531883577	chr11:71162727-71162728	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs550273468	chr11:71162755-71162756	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
16	rs78692198	chr11:71162761-71162762	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
17	rs183090651	chr11:71162782-71162783	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
18	rs11546509	chr11:71162785-71162786	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs545248742	chr11:71162788-71162789	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs75466119	chr11:71162789-71162790	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs369239095	chr11:71162819-71162820	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
22	rs187785095	chr11:71162829-71162830	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
23	rs551991621	chr11:71162830-71162831	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
24	rs575733649	chr11:71162835-71162836	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
25	rs565245601	chr11:71162848-71162849	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
26	rs543130071	chr11:71162852-71162853	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
27	rs192604859	chr11:71162856-71162857	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
28	rs72954301	chr11:71162858-71162859	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573374688	chr11:71162863-71162864	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs59601821	chr11:71162877-71162878	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552655665	chr11:71162900-71162901	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
32	rs184431890	chr11:71162908-71162909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
33	rs576433059	chr11:71162938-71162939	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs544974743	chr11:71162946-71162947	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs563528888	chr11:71162948-71162949	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs575326401	chr11:71162970-71162971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs542806746	chr11:71162983-71162984	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs562183406	chr11:71163051-71163052	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs540583213	chr11:71163052-71163053	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs113035635	chr11:71163114-71163115	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs558913642	chr11:71163123-71163124	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs529358536	chr11:71163132-71163133	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs547820266	chr11:71163144-71163145	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs559478432	chr11:71163248-71163249	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs529735299	chr11:71163256-71163257	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs533727420	chr11:71163281-71163282	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs374244636	chr11:71163317-71163318	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs139139046	chr11:71163354-71163355	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs531033046	chr11:71163386-71163387	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs2002064	chr11:71163420-71163421	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:105)

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
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
Hodgkin''s lymphoma	17606441	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2002 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71160400-71162800	Weak transcription	Gastric	stomach
2	chr11:71160400-71163000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:71160600-71162600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:71160600-71162800	Enhancers	Primary B cells from cord blood	blood
5	chr11:71160600-71163000	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:71160600-71163000	Weak transcription	Placenta	Placenta
7	chr11:71160600-71163000	Weak transcription	Left Ventricle	heart
8	chr11:71160600-71163000	Weak transcription	Right Atrium	heart
9	chr11:71160600-71163400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71160600-71163400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:71160600-71163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:71160600-71163400	Weak transcription	HSMMtube	muscle
13	chr11:71160800-71162400	Weak transcription	Fetal Lung	lung
14	chr11:71160800-71162600	Enhancers	Brain Anterior Caudate	brain
15	chr11:71160800-71162600	Weak transcription	Fetal Kidney	kidney
16	chr11:71160800-71162600	Weak transcription	Lung	lung
17	chr11:71160800-71162600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr11:71160800-71162600	Weak transcription	NHDF-Ad	bronchial
19	chr11:71160800-71162800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:71160800-71162800	Weak transcription	Right Ventricle	heart
21	chr11:71160800-71163000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:71160800-71163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:71160800-71163000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:71160800-71163000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr11:71160800-71163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:71160800-71163000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:71160800-71163000	Weak transcription	Esophagus	oesophagus
28	chr11:71160800-71163000	Weak transcription	Fetal Heart	heart
29	chr11:71160800-71163000	Weak transcription	Pancreas	Pancrea
30	chr11:71160800-71163000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:71160800-71163000	Weak transcription	Stomach Mucosa	stomach
32	chr11:71160800-71163000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:71160800-71163200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:71160800-71163200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:71160800-71163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:71160800-71163400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:71160800-71163400	Enhancers	Fetal Intestine Small	intestine
38	chr11:71160800-71163400	Weak transcription	Ovary	ovary
39	chr11:71160800-71163600	Weak transcription	Aorta	Aorta
40	chr11:71161000-71162400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:71161000-71162400	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:71161000-71162400	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:71161000-71162400	Weak transcription	Fetal Thymus	thymus
44	chr11:71161000-71162400	Weak transcription	Spleen	Spleen
45	chr11:71161000-71162600	Weak transcription	Osteobl	bone
46	chr11:71161000-71162800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:71161000-71162800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:71161000-71162800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:71161000-71162800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:71161000-71162800	Weak transcription	Rectal Mucosa Donor 31	rectum

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