Variant report

Variant	esv3439899
Chromosome Location	chr11:47376276-47381174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:558)
CpG islands
(count:305)
Chromatin interactive
region (count:59)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:47376783-47377047	HepG2	liver:	n/a	n/a
2	ATF2	chr11:47376831-47377112	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr11:47376676-47377063	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr11:47376749-47377010	HepG2	liver:	n/a	n/a
5	ATF3	chr11:47376737-47377071	A549	lung:	n/a	n/a
6	BACH1	chr11:47377434-47377493	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr11:47377142-47379210	GM12878	blood:	n/a	chr11:47377212-47377225
8	BCL3	chr11:47379522-47380304	GM12878	blood:	n/a	n/a
9	BCL3	chr11:47379439-47380264	GM12878	blood:	n/a	n/a
10	BCL3	chr11:47376717-47377187	A549	lung:	n/a	n/a
11	BCL3	chr11:47377019-47379137	GM12878	blood:	n/a	chr11:47377212-47377225
12	BHLHE40	chr11:47376804-47377136	K562	blood:	n/a	n/a
13	BHLHE40	chr11:47377442-47377654	K562	blood:	n/a	n/a
14	BRCA1	chr11:47376798-47377122	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr11:47378370-47378390	GM12878	blood:	n/a	n/a
16	BRCA1	chr11:47377376-47377391	GM12878	blood:	n/a	n/a
17	CBX3	chr11:47377619-47377911	K562	blood:	n/a	n/a
18	CBX3	chr11:47376769-47377105	K562	blood:	n/a	n/a
19	CBX3	chr11:47377333-47377808	K562	blood:	n/a	n/a
20	CBX3	chr11:47376697-47377240	K562	blood:	n/a	n/a
21	CCNT2	chr11:47376692-47377193	K562	blood:	n/a	n/a
22	CEBPB	chr11:47377625-47377636	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:47376756-47377094	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:47376777-47377093	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr11:47376786-47377117	K562	blood:	n/a	n/a
26	CEBPB	chr11:47376824-47376992	HepG2	liver:	n/a	n/a
27	CEBPB	chr11:47376789-47377049	IMR90	lung:	n/a	n/a
28	CEBPB	chr11:47376840-47377055	K562	blood:	n/a	n/a
29	CHD1	chr11:47376697-47377199	IMR90	lung:	n/a	n/a
30	CHD2	chr11:47376789-47377057	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr11:47376832-47377019	K562	blood:	n/a	n/a
32	CHD2	chr11:47376748-47377131	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr11:47378331-47378707	GM12878	blood:	n/a	n/a
34	CHD2	chr11:47377503-47377715	GM12878	blood:	n/a	n/a
35	CREB1	chr11:47376688-47377168	A549	lung:	n/a	n/a
36	CREB1	chr11:47376638-47377104	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:47376702-47377173	K562	blood:	n/a	n/a
38	CTCF	chr11:47377382-47377384	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:47376860-47377010	AG04450	lung:	n/a	n/a
40	CTCF	chr11:47376880-47377030	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr11:47376777-47377101	A549	lung:	n/a	n/a
42	CTCF	chr11:47376796-47377093	HepG2	liver:	n/a	n/a
43	CTCF	chr11:47376900-47377050	HL-60	blood:	n/a	n/a
44	CTCF	chr11:47376820-47376970	HCM	heart:	n/a	n/a
45	CTCF	chr11:47376140-47376290	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:47376920-47377070	GM12865	blood:	n/a	n/a
47	CTCF	chr11:47376787-47377110	ProgFib	skin:	n/a	n/a
48	CTCF	chr11:47376840-47376990	GM12871	blood:	n/a	n/a
49	CTCF	chr11:47376860-47377010	HCT-116	colon:	n/a	n/a
50	CTCF	chr11:47376877-47377034	GM13977	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47376519-47376569	SAEC	small airway:	n/a
2	chr11:47376519-47376569	LNCaP	prostate:	n/a
3	chr11:47376754-47376804	ProgFib	skin:	n/a
4	chr11:47380751-47380801	NH-A	brain:	n/a
5	chr11:47377212-47377262	AoSMC	blood vessel:	n/a
6	chr11:47376519-47376569	AG04450	lung:	fetal
7	chr11:47380751-47380801	A549	lung:	n/a
8	chr11:47380751-47380801	RPTEC	kidney:	n/a
9	chr11:47376754-47376804	HNPCEpiC	eye:	n/a
10	chr11:47376985-47377035	HEK293	kidney:	embryo
11	chr11:47376754-47376804	Caco-2	colon:	n/a
12	chr11:47376519-47376569	NH-A	brain:	n/a
13	chr11:47376985-47377035	AG09319	gingival:	n/a
14	chr11:47376754-47376804	AG04450	lung:	fetal
15	chr11:47376519-47376569	HNPCEpiC	eye:	n/a
16	chr11:47380751-47380801	CMK	blood:	n/a
17	chr11:47380751-47380801	GM12892	blood:	n/a
18	chr11:47380751-47380801	IMR90	lung:	fetal
19	chr11:47376519-47376569	U87	brain:	n/a
20	chr11:47377212-47377262	Jurkat	blood:	n/a
21	chr11:47376519-47376569	SK-N-SH	brain:	n/a
22	chr11:47376985-47377035	GM19239	blood:	n/a
23	chr11:47377212-47377262	H1-hESC	embryonic stem cell:	embryo
24	chr11:47376985-47377035	HRPEpiC	eye:	n/a
25	chr11:47376519-47376569	MCF-7	breast:	n/a
26	chr11:47380751-47380801	ProgFib	skin:	n/a
27	chr11:47376754-47376804	GM19239	blood:	n/a
28	chr11:47380751-47380801	AG10803	skin:	n/a
29	chr11:47376754-47376804	GM12892	blood:	n/a
30	chr11:47376754-47376804	HEK293	kidney:	embryo
31	chr11:47376519-47376569	AoSMC	blood vessel:	n/a
32	chr11:47377212-47377262	AG09319	gingival:	n/a
33	chr11:47376754-47376804	SK-N-SH_RA	brain:	n/a
34	chr11:47376754-47376804	ovcar-3	ovarian:	n/a
35	chr11:47377212-47377262	RPTEC	kidney:	n/a
36	chr11:47376754-47376804	NH-A	brain:	n/a
37	chr11:47377212-47377262	GM06990	blood:	n/a
38	chr11:47380751-47380801	PrEC	prostate:	n/a
39	chr11:47376985-47377035	HAEpiC	amniotic membrane:	n/a
40	chr11:47380751-47380801	HCPEpiC	choroid plexus:	n/a
41	chr11:47377212-47377262	HMEC	breast:	n/a
42	chr11:47377212-47377262	HEEpiC	esophagus:	n/a
43	chr11:47377212-47377262	NHDF-neo	bronchial:	n/a
44	chr11:47376754-47376804	ECC-1	luminal epithelium:	n/a
45	chr11:47380751-47380801	PANC-1	pancreas:	n/a
46	chr11:47376754-47376804	HEEpiC	esophagus:	n/a
47	chr11:47376754-47376804	HAEpiC	amniotic membrane:	n/a
48	chr11:47380751-47380801	AG09319	gingival:	n/a
49	chr11:47376519-47376569	T-47D	breast:	n/a
50	chr11:47380751-47380801	AG09309	skin:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:47374451..47376325-chr11:47427104..47429817,2	MCF-7	breast:
2	chr11:47379032..47381068-chr11:47385092..47386815,2	MCF-7	breast:
3	chr11:47281216..47281858-chr11:47376450..47377036,2	MCF-7	breast:
4	chr11:47340547..47341169-chr11:47376503..47377448,2	MCF-7	breast:
5	chr11:47198489..47199561-chr11:47376477..47377464,4	K562	blood:
6	chr11:46910951..46911598-chr11:47376515..47377078,2	MCF-7	breast:
7	chr11:47198044..47199863-chr11:47376430..47377442,22	MCF-7	breast:
8	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
9	chr11:47192862..47193483-chr11:47376524..47377353,2	MCF-7	breast:
10	chr11:47200654..47202025-chr11:47376839..47377503,3	MCF-7	breast:
11	chr11:47332627..47333397-chr11:47376473..47377359,2	MCF-7	breast:
12	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
13	chr11:47201336..47204009-chr11:47374499..47376871,2	MCF-7	breast:
14	chr11:47290509..47292951-chr11:47377343..47380007,3	MCF-7	breast:
15	chr11:47376430..47376950-chr11:47395548..47396053,2	MCF-7	breast:
16	chr11:47376825..47377467-chr11:47475964..47476482,2	MCF-7	breast:
17	chr11:47369216..47372065-chr11:47378496..47380430,2	K562	blood:
18	chr11:47376479..47377526-chr11:47429514..47430732,6	K562	blood:
19	chr11:47366884..47369322-chr11:47374735..47376976,2	K562	blood:
20	chr11:47284615..47286154-chr11:47378309..47380151,2	MCF-7	breast:
21	chr11:47380338..47382124-chr11:47391375..47394972,3	K562	blood:
22	chr11:47200721..47201457-chr11:47376536..47377159,2	MCF-7	breast:
23	chr11:47333775..47334596-chr11:47376542..47377210,2	MCF-7	breast:
24	chr11:47182519..47183758-chr11:47376283..47377406,7	MCF-7	breast:
25	chr11:47374545..47377220-chr11:47429148..47430894,2	K562	blood:
26	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
27	chr11:47368613..47373799-chr11:47374584..47376990,4	MCF-7	breast:
28	chr11:47376464..47377315-chr11:47421306..47422272,2	K562	blood:
29	chr11:47372212..47375004-chr11:47380040..47382047,2	MCF-7	breast:
30	chr11:47376852..47377400-chr11:47384721..47385536,2	K562	blood:
31	chr11:47378071..47380550-chr11:47420446..47422509,2	MCF-7	breast:
32	chr11:47182335..47183369-chr11:47376517..47377453,5	K562	blood:
33	chr11:47376520..47377472-chr11:47429288..47430230,5	MCF-7	breast:
34	chr11:47174410..47175370-chr11:47376484..47377024,2	MCF-7	breast:
35	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
36	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
37	chr11:47351825..47352364-chr11:47376428..47377047,2	MCF-7	breast:
38	chr11:47255623..47256557-chr11:47376503..47377353,4	MCF-7	breast:
39	chr11:47195702..47198669-chr11:47379540..47381275,2	K562	blood:
40	chr11:47278768..47280166-chr11:47376437..47377439,9	K562	blood:
41	chr11:47292004..47292682-chr11:47376539..47377229,2	MCF-7	breast:
42	chr11:47352757..47353542-chr11:47376561..47377283,2	MCF-7	breast:
43	chr11:47280680..47281533-chr11:47376519..47377168,3	MCF-7	breast:
44	chr11:47181895..47183396-chr11:47375701..47377914,2	K562	blood:
45	chr11:47376680..47377459-chr11:47395174..47396139,4	K562	blood:
46	chr11:47279574..47280107-chr11:47376721..47377412,2	MCF-7	breast:
47	chr11:47198719..47199807-chr11:47376539..47377421,5	MCF-7	breast:
48	chr11:47380057..47381801-chr11:47388110..47390294,2	K562	blood:
49	chr11:47375322..47377649-chr11:47398628..47401440,2	K562	blood:
50	chr11:47174382..47175264-chr11:47376452..47377398,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MADD-3	chr11:47376538-47377071	NONHSAT021235

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SPI1	hsa-miR-155-5p	chr11:47376731-47376724
2	SPI1	hsa-miR-155-5p	chr11:47376725-47376746

Variant related genes	Relation type
MYBPC3	TF binding region
MYBPC3	CpG island
ENSG00000025434	chromatin interactions
ENSG00000255197	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000134575	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000134569	chromatin interactions
ENSG00000066336	chromatin interactions
ENSG00000165912	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000134571	chromatin interactions

Extended variants
information (count: 352 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149436187	chr11:47376342-47376343	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs3740686	chr11:47376363-47376364	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs116330587	chr11:47376421-47376422	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs182746140	chr11:47376446-47376447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs1057233	chr11:47376448-47376449	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs531943594	chr11:47376495-47376496	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs10747	chr11:47376544-47376545	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562299021	chr11:47376557-47376558	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs371396849	chr11:47376567-47376568	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
10	rs528011574	chr11:47376631-47376632	Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs1057221	chr11:47376650-47376651	Active TSS Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
12	rs201685606	chr11:47376831-47376832	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs547661266	chr11:47376834-47376835	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
14	rs142654617	chr11:47376862-47376863	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs150932236	chr11:47376874-47376875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs140748162	chr11:47376898-47376899	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs368088159	chr11:47376913-47376914	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs150085664	chr11:47376927-47376928	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
19	rs113063744	chr11:47376967-47376968	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
20	rs3197824	chr11:47376995-47376996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
21	rs3197823	chr11:47376998-47376999	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
22	rs140278101	chr11:47377084-47377085	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs550256264	chr11:47377102-47377103	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs200099249	chr11:47377104-47377105	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs61897385	chr11:47377114-47377115	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs373089127	chr11:47377143-47377144	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs535944465	chr11:47377171-47377172	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs554510695	chr11:47377172-47377173	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs568247487	chr11:47377187-47377188	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs534111964	chr11:47377196-47377197	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs554082654	chr11:47377228-47377229	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs200443145	chr11:47377247-47377248	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs144813051	chr11:47377266-47377267	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs111949726	chr11:47377271-47377272	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs59011238	chr11:47377273-47377274	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201758119	chr11:47377276-47377277	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs199536624	chr11:47377278-47377279	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs71475909	chr11:47377283-47377284	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs71458207	chr11:47377290-47377291	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs56877688	chr11:47377291-47377292	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527849727	chr11:47377298-47377299	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs541339549	chr11:47377299-47377300	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs564396341	chr11:47377312-47377313	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs544908564	chr11:47377325-47377326	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs74561998	chr11:47377326-47377327	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs71308363	chr11:47377333-47377334	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs180799807	chr11:47377334-47377335	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs190017989	chr11:47377337-47377338	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs137913475	chr11:47377353-47377354	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs549950642	chr11:47377360-47377361	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:47370800-47377000	Weak transcription	K562	blood
3	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:47372800-47376400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:47373000-47376800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:47373800-47376400	Weak transcription	Placenta	Placenta
7	chr11:47373800-47377000	Weak transcription	Fetal Lung	lung
8	chr11:47373800-47377200	Weak transcription	Gastric	stomach
9	chr11:47374000-47376600	Weak transcription	Ovary	ovary
10	chr11:47374200-47377200	Enhancers	Fetal Heart	heart
11	chr11:47374400-47376400	Weak transcription	Right Atrium	heart
12	chr11:47374400-47376400	Weak transcription	Right Ventricle	heart
13	chr11:47374600-47376600	Weak transcription	Pancreas	Pancrea
14	chr11:47374600-47376800	Weak transcription	Spleen	Spleen
15	chr11:47374800-47376600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:47375600-47376400	Flanking Bivalent TSS/Enh	HepG2	liver
20	chr11:47375600-47376600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:47375600-47376600	Enhancers	Left Ventricle	heart
22	chr11:47375600-47377800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
26	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr11:47375800-47376400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr11:47375800-47377400	Active TSS	Brain Cingulate Gyrus	brain
29	chr11:47375800-47377600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:47376000-47376400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:47376000-47376400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr11:47376000-47376400	Enhancers	Brain Substantia Nigra	brain
33	chr11:47376000-47376800	Active TSS	Stomach Smooth Muscle	stomach
34	chr11:47376000-47377200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:47376000-47377200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:47376200-47376400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:47376200-47376400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:47376200-47376400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:47376200-47376400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr11:47376200-47376400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:47376200-47376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:47376200-47376400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:47376200-47376400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:47376200-47376400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr11:47376200-47376400	Enhancers	Brain Angular Gyrus	brain
46	chr11:47376200-47376400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr11:47376200-47376400	Enhancers	Fetal Intestine Large	intestine
48	chr11:47376200-47376400	Enhancers	Fetal Muscle Leg	muscle
49	chr11:47376200-47376400	Enhancers	Fetal Stomach	stomach
50	chr11:47376200-47376400	Enhancers	Rectal Mucosa Donor 29	rectum

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