Variant report

Variant	esv3391449
Chromosome Location	chr11:47377226-47379724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:192)
CpG islands
(count:61)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:192 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:47377434-47377493	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr11:47377142-47379210	GM12878	blood:	n/a	chr11:47377212-47377225
3	BCL3	chr11:47377019-47379137	GM12878	blood:	n/a	chr11:47377212-47377225
4	BCL3	chr11:47379439-47380264	GM12878	blood:	n/a	n/a
5	BCL3	chr11:47379522-47380304	GM12878	blood:	n/a	n/a
6	BHLHE40	chr11:47377442-47377654	K562	blood:	n/a	n/a
7	BRCA1	chr11:47378370-47378390	GM12878	blood:	n/a	n/a
8	BRCA1	chr11:47377376-47377391	GM12878	blood:	n/a	n/a
9	CBX3	chr11:47376697-47377240	K562	blood:	n/a	n/a
10	CBX3	chr11:47377619-47377911	K562	blood:	n/a	n/a
11	CBX3	chr11:47377333-47377808	K562	blood:	n/a	n/a
12	CEBPB	chr11:47377625-47377636	HepG2	liver:	n/a	n/a
13	CHD2	chr11:47377503-47377715	GM12878	blood:	n/a	n/a
14	CHD2	chr11:47378331-47378707	GM12878	blood:	n/a	n/a
15	CTCF	chr11:47377936-47378048	GM12892	blood:	n/a	n/a
16	CTCF	chr11:47377497-47377627	GM12892	blood:	n/a	n/a
17	CTCF	chr11:47377560-47377664	GM12891	blood:	n/a	n/a
18	CTCF	chr11:47377382-47377384	MCF-7	breast:	n/a	n/a
19	CTCF	chr11:47378721-47378868	GM19239	blood:	n/a	n/a
20	CTCF	chr11:47378347-47378500	GM19239	blood:	n/a	n/a
21	CTCF	chr11:47378321-47378325	GM19239	blood:	n/a	n/a
22	CTCF	chr11:47378413-47378465	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:47377600-47377750	AG04449	skin:	n/a	n/a
24	CTCF	chr11:47376058-47377990	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr11:47377847-47377891	GM19239	blood:	n/a	n/a
26	CTCF	chr11:47376631-47377384	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:47378730-47378816	NHEK	skin:	n/a	n/a
28	CTCF	chr11:47377680-47377728	GM19239	blood:	n/a	n/a
29	CTCF	chr11:47377958-47378092	GM19239	blood:	n/a	n/a
30	CTCF	chr11:47376695-47377241	A549	lung:	n/a	n/a
31	CTCF	chr11:47377220-47377669	GM19239	blood:	n/a	n/a
32	CTCF	chr11:47377580-47377730	HEK293	kidney:	n/a	n/a
33	CTCF	chr11:47376617-47377462	HCT-116	colon:	n/a	n/a
34	CTCF	chr11:47377395-47377451	GM20000	blood:	n/a	n/a
35	CTCF	chr11:47378303-47378307	GM19239	blood:	n/a	n/a
36	CTCF	chr11:47376520-47377291	K562	blood:	n/a	n/a
37	CTCF	chr11:47376309-47377682	A549	lung:	n/a	n/a
38	CTCF	chr11:47377195-47377689	NHEK	skin:	n/a	n/a
39	CTCF	chr11:47378195-47378302	GM19239	blood:	n/a	n/a
40	CTCF	chr11:47377227-47377308	Fibrobl	skin:	n/a	n/a
41	CTCF	chr11:47377862-47377885	NHEK	skin:	n/a	n/a
42	CTCF	chr11:47376644-47377348	HCT-116	colon:	n/a	n/a
43	CTCF	chr11:47377180-47377330	AG10803	skin:	n/a	n/a
44	CTCF	chr11:47379675-47379750	GM19239	blood:	n/a	n/a
45	EGR1	chr11:47376740-47377600	MCF-7	breast:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
46	EGR1	chr11:47376806-47377522	K562	blood:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
47	EGR1	chr11:47377606-47378103	K562	blood:	n/a	n/a
48	EGR1	chr11:47376752-47378139	K562	blood:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
49	EGR1	chr11:47376818-47377606	ECC-1	luminal epithelium:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
50	ELF1	chr11:47376800-47377234	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47377212-47377262	Hela-S3	cervix:	n/a
2	chr11:47377212-47377262	GM12892	blood:	n/a
3	chr11:47377212-47377262	ProgFib	skin:	n/a
4	chr11:47377212-47377262	HEEpiC	esophagus:	n/a
5	chr11:47377212-47377262	LNCaP	prostate:	n/a
6	chr11:47377212-47377262	GM19239	blood:	n/a
7	chr11:47377212-47377262	HMEC	breast:	n/a
8	chr11:47377212-47377262	A549	lung:	n/a
9	chr11:47377212-47377262	HCF	heart:	n/a
10	chr11:47377212-47377262	HCPEpiC	choroid plexus:	n/a
11	chr11:47377212-47377262	PFSK-1	brain:	n/a
12	chr11:47377212-47377262	BE2_C	brain:	n/a
13	chr11:47377212-47377262	BJ	skin:	n/a
14	chr11:47377212-47377262	Caco-2	colon:	n/a
15	chr11:47377212-47377262	Hepatocyte	liver:	n/a
16	chr11:47377212-47377262	AoSMC	blood vessel:	n/a
17	chr11:47377212-47377262	HIPEpiC	eye:	n/a
18	chr11:47377212-47377262	HepG2	liver:	n/a
19	chr11:47377212-47377262	IMR90	lung:	fetal
20	chr11:47377212-47377262	SK-N-SH_RA	brain:	n/a
21	chr11:47377212-47377262	ECC-1	luminal epithelium:	n/a
22	chr11:47377212-47377262	CMK	blood:	n/a
23	chr11:47377212-47377262	GM12891	blood:	n/a
24	chr11:47377212-47377262	HCM	heart:	n/a
25	chr11:47377212-47377262	HRCEpiC	kidney:	n/a
26	chr11:47377212-47377262	MCF-7	breast:	n/a
27	chr11:47377212-47377262	GM06990	blood:	n/a
28	chr11:47377212-47377262	SAEC	small airway:	n/a
29	chr11:47377212-47377262	T-47D	breast:	n/a
30	chr11:47377212-47377262	PrEC	prostate:	n/a
31	chr11:47377212-47377262	MCF10A-Er-Src	breast:	n/a
32	chr11:47377212-47377262	SKMC	muscle:	n/a
33	chr11:47377212-47377262	K562	blood:	n/a
34	chr11:47377212-47377262	AG09309	skin:	n/a
35	chr11:47377212-47377262	U87	brain:	n/a
36	chr11:47377212-47377262	SK-N-SH	brain:	n/a
37	chr11:47377212-47377262	NHBE	bronchial:	n/a
38	chr11:47377212-47377262	HCT-116	colon:	n/a
39	chr11:47377212-47377262	SK-N-MC	brain:	n/a
40	chr11:47377212-47377262	PANC-1	pancreas:	n/a
41	chr11:47377212-47377262	RPTEC	kidney:	n/a
42	chr11:47377212-47377262	NT2-D1	testis:	n/a
43	chr11:47377212-47377262	NH-A	brain:	n/a
44	chr11:47377212-47377262	H1-hESC	embryonic stem cell:	embryo
45	chr11:47377212-47377262	HRPEpiC	eye:	n/a
46	chr11:47377212-47377262	HPAEpiC	pulmonary alveolar:	n/a
47	chr11:47377212-47377262	HUVEC	blood vessel:	n/a
48	chr11:47377212-47377262	AG04450	lung:	fetal
49	chr11:47377212-47377262	NB4	blood:	n/a
50	chr11:47377212-47377262	AG09319	gingival:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47292004..47292682-chr11:47376539..47377229,2	MCF-7	breast:
2	chr11:47352757..47353542-chr11:47376561..47377283,2	MCF-7	breast:
3	chr11:47369216..47372065-chr11:47378496..47380430,2	K562	blood:
4	chr11:47195702..47198669-chr11:47379540..47381275,2	K562	blood:
5	chr11:47255280..47255866-chr11:47376834..47377535,2	K562	blood:
6	chr11:47255623..47256557-chr11:47376503..47377353,4	MCF-7	breast:
7	chr11:47376680..47377459-chr11:47395174..47396139,4	K562	blood:
8	chr11:47284615..47286154-chr11:47378309..47380151,2	MCF-7	breast:
9	chr11:47376479..47377526-chr11:47429514..47430732,6	K562	blood:
10	chr11:47379032..47381068-chr11:47385092..47386815,2	MCF-7	breast:
11	chr11:47196513..47199902-chr11:47376301..47378521,3	K562	blood:
12	chr11:47378071..47380550-chr11:47420446..47422509,2	MCF-7	breast:
13	chr11:47279574..47280107-chr11:47376721..47377412,2	MCF-7	breast:
14	chr11:47375322..47377649-chr11:47398628..47401440,2	K562	blood:
15	chr11:47376464..47377315-chr11:47421306..47422272,2	K562	blood:
16	chr11:47198719..47199807-chr11:47376539..47377421,5	MCF-7	breast:
17	chr11:47292062..47293120-chr11:47376381..47377320,5	MCF-7	breast:
18	chr11:47376520..47377472-chr11:47429288..47430230,5	MCF-7	breast:
19	chr11:47182168..47183177-chr11:47376486..47377401,4	MCF-7	breast:
20	chr11:47376825..47377467-chr11:47475964..47476482,2	MCF-7	breast:
21	chr11:47182335..47183369-chr11:47376517..47377453,5	K562	blood:
22	chr11:47174382..47175264-chr11:47376452..47377398,3	K562	blood:
23	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
24	chr11:47207118..47209265-chr11:47376367..47377900,2	K562	blood:
25	chr11:47376852..47377400-chr11:47384721..47385536,2	K562	blood:
26	chr11:47200654..47202025-chr11:47376839..47377503,3	MCF-7	breast:
27	chr11:47340547..47341169-chr11:47376503..47377448,2	MCF-7	breast:
28	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
29	chr11:47192862..47193483-chr11:47376524..47377353,2	MCF-7	breast:
30	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
31	chr11:47181895..47183396-chr11:47375701..47377914,2	K562	blood:
32	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
33	chr11:47182519..47183758-chr11:47376283..47377406,7	MCF-7	breast:
34	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
35	chr11:47332627..47333397-chr11:47376473..47377359,2	MCF-7	breast:
36	chr11:47290509..47292951-chr11:47377343..47380007,3	MCF-7	breast:
37	chr11:47376407..47377483-chr11:47475495..47476359,4	K562	blood:
38	chr11:47198044..47199863-chr11:47376430..47377442,22	MCF-7	breast:
39	chr11:47198489..47199561-chr11:47376477..47377464,4	K562	blood:
40	chr11:47377126..47379230-chr11:47428179..47431168,2	MCF-7	breast:
41	chr11:47200081..47201308-chr11:47376446..47377426,4	K562	blood:
42	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:
43	chr11:47278768..47280166-chr11:47376437..47377439,9	K562	blood:

No data

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

Extended variants
information (count: 229 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	rs563693909	chr11:47377379-47377380	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
22	rs529404383	chr11:47377410-47377411	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs150870784	chr11:47377415-47377416	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs71457215	chr11:47377416-47377417	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs549437724	chr11:47377435-47377436	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs568285967	chr11:47377440-47377441	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs540844135	chr11:47377441-47377442	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs533942636	chr11:47377442-47377443	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs560669422	chr11:47377445-47377446	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs142754483	chr11:47377459-47377460	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs146106334	chr11:47377465-47377466	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs139939401	chr11:47377488-47377489	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs182981271	chr11:47377489-47377490	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs544775638	chr11:47377507-47377508	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs146503233	chr11:47377511-47377512	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs191113775	chr11:47377513-47377514	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs202076451	chr11:47377516-47377517	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs368422308	chr11:47377517-47377518	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs199722268	chr11:47377524-47377525	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs182785884	chr11:47377527-47377528	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs186596424	chr11:47377528-47377529	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs575097674	chr11:47377543-47377544	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs575969165	chr11:47377589-47377590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs535218599	chr11:47377610-47377611	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs368596923	chr11:47377627-47377628	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs555009171	chr11:47377628-47377629	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs572313270	chr11:47377653-47377654	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs11602132	chr11:47377654-47377655	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140064370	chr11:47377688-47377689	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs540535119	chr11:47377717-47377718	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 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:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47375600-47377800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
9	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr11:47375800-47377400	Active TSS	Brain Cingulate Gyrus	brain
11	chr11:47375800-47377600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr11:47376200-47377400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:47376200-47377400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:47376200-47377400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:47376200-47377400	Enhancers	Stomach Mucosa	stomach
16	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr11:47376400-47377400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:47376400-47377400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:47376400-47377400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:47376400-47377400	Active TSS	Brain Anterior Caudate	brain
21	chr11:47376400-47377400	Active TSS	Brain Substantia Nigra	brain
22	chr11:47376400-47377400	Active TSS	Colon Smooth Muscle	Colon
23	chr11:47376400-47377400	Active TSS	Fetal Intestine Large	intestine
24	chr11:47376400-47377400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:47376400-47377400	Active TSS	Rectal Smooth Muscle	rectum
26	chr11:47376400-47377400	Active TSS	HSMM	muscle
27	chr11:47376400-47377600	Enhancers	Placenta	Placenta
28	chr11:47376600-47377400	Active TSS	Brain Hippocampus Middle	brain
29	chr11:47376600-47377400	Active TSS	Osteobl	bone
30	chr11:47376600-47377600	Enhancers	Lung	lung
31	chr11:47376600-47377800	Active TSS	A549	lung
32	chr11:47376800-47377400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:47376800-47377400	Bivalent Enhancer	Fetal Brain Male	brain
34	chr11:47376800-47377400	Active TSS	Fetal Kidney	kidney
35	chr11:47376800-47377600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:47376800-47377800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:47377000-47377400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:47377000-47377400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:47377000-47377400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:47377000-47377400	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr11:47377000-47377400	Flanking Active TSS	Fetal Stomach	stomach
43	chr11:47377000-47377400	Flanking Active TSS	NHEK	skin
44	chr11:47377000-47377600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr11:47377000-47377600	Flanking Active TSS	Fetal Lung	lung
46	chr11:47377000-47377600	Enhancers	K562	blood
47	chr11:47377000-47377800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:47377000-47377800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:47377000-47377800	Flanking Active TSS	Esophagus	oesophagus
50	chr11:47377200-47377400	Enhancers	H1 Cell Line	embryonic stem cell

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