Variant report

Variant	esv33730
Chromosome Location	chr11:63581200-63586085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:376)
CpG islands
(count:305)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:63580311-63581792	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr11:63580589-63581657	GM12878	blood:	n/a	n/a
3	BHLHE40	chr11:63580553-63581300	K562	blood:	n/a	n/a
4	BRCA1	chr11:63581942-63581960	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr11:63581166-63581366	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr11:63581023-63581342	K562	blood:	n/a	n/a
7	CCNT2	chr11:63580400-63581714	K562	blood:	n/a	chr11:63581324-63581333 chr11:63581330-63581339
8	CEBPD	chr11:63581417-63581674	HepG2	liver:	n/a	n/a
9	CHD1	chr11:63581653-63582154	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr11:63581105-63581402	GM12878	blood:	n/a	n/a
11	CHD2	chr11:63581220-63581494	K562	blood:	n/a	n/a
12	CHD2	chr11:63580407-63582035	Hela-S3	cervix:	n/a	chr11:63580938-63580948 chr11:63581081-63581091
13	CHD2	chr11:63581971-63582020	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr11:63581104-63581562	GM12878	blood:	n/a	n/a
15	CREB1	chr11:63580331-63581836	HepG2	liver:	n/a	n/a
16	CTCF	chr11:63581483-63581709	IMR90	lung:	n/a	chr11:63581589-63581602
17	CTCF	chr11:63581122-63581218	K562	blood:	n/a	n/a
18	CTCF	chr11:63581504-63581640	SK-N-SH_RA	brain:	n/a	chr11:63581589-63581602
19	CTCF	chr11:63581547-63581588	GM10248	blood:	n/a	n/a
20	CTCF	chr11:63581120-63581270	NHEK	skin:	n/a	n/a
21	CTCF	chr11:63581181-63581206	GM10266	blood:	n/a	n/a
22	CTCF	chr11:63581460-63581610	HVMF	connective:	n/a	chr11:63581589-63581602
23	CTCF	chr11:63581500-63581650	Caco-2	colon:	n/a	chr11:63581589-63581602
24	CTCF	chr11:63581460-63581610	NHDF-neo	bronchial:	n/a	chr11:63581589-63581602
25	CTCF	chr11:63581564-63581569	Lung_OC	lung:	n/a	n/a
26	CTCF	chr11:63581480-63581630	AG09319	gingival:	n/a	chr11:63581589-63581602
27	CTCF	chr11:63581780-63581930	AG09319	gingival:	n/a	n/a
28	CTCF	chr11:63581571-63581647	Lung_OC	lung:	n/a	chr11:63581589-63581602
29	CTCF	chr11:63581420-63581570	K562	blood:	n/a	n/a
30	CTCF	chr11:63581460-63581610	GM12868	blood:	n/a	chr11:63581589-63581602
31	CTCF	chr11:63581500-63581650	GM12867	blood:	n/a	chr11:63581589-63581602
32	CTCF	chr11:63581500-63581650	HCPEpiC	choroid plexus:	n/a	chr11:63581589-63581602
33	CTCF	chr11:63581440-63581590	BJ	skin:	n/a	n/a
34	CTCF	chr11:63581480-63581630	BJ	skin:	n/a	chr11:63581589-63581602
35	CTCF	chr11:63581440-63581590	GM06990	blood:	n/a	n/a
36	CTCF	chr11:63583940-63584090	GM12872	blood:	n/a	n/a
37	CTCF	chr11:63581520-63581670	HA-sp	spinal cord:	n/a	chr11:63581589-63581602
38	CTCF	chr11:63581168-63581213	LNCaP	prostate:	n/a	n/a
39	CTCF	chr11:63581515-63581638	GM12878	blood:	n/a	chr11:63581589-63581602
40	CTCF	chr11:63581480-63581630	HepG2	liver:	n/a	chr11:63581589-63581602
41	CTCF	chr11:63581180-63581247	Fibrobl	skin:	n/a	n/a
42	CTCF	chr11:63581220-63581370	GM06990	blood:	n/a	n/a
43	CTCF	chr11:63581480-63581630	AG04449	skin:	n/a	chr11:63581589-63581602
44	CTCF	chr11:63581560-63581710	Hela-S3	cervix:	n/a	chr11:63581589-63581602
45	CTCF	chr11:63581420-63581570	GM12871	blood:	n/a	n/a
46	CTCF	chr11:63581460-63581610	AG09319	gingival:	n/a	chr11:63581589-63581602
47	CTCF	chr11:63581480-63581630	GM12869	blood:	n/a	chr11:63581589-63581602
48	CTCF	chr11:63581780-63581930	GM12873	blood:	n/a	n/a
49	CTCF	chr11:63581640-63581790	Caco-2	colon:	n/a	chr11:63581719-63581732
50	CTCF	chr11:63581480-63581630	HPF	lung:	n/a	chr11:63581589-63581602

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63581631-63581681	ProgFib	skin:	n/a
2	chr11:63581433-63581483	HRE	kidney:	n/a
3	chr11:63581814-63581864	SK-N-SH_RA	brain:	n/a
4	chr11:63585213-63585263	HNPCEpiC	eye:	n/a
5	chr11:63581631-63581681	ovcar-3	ovarian:	n/a
6	chr11:63585213-63585263	PANC-1	pancreas:	n/a
7	chr11:63581631-63581681	NH-A	brain:	n/a
8	chr11:63581631-63581681	AG10803	skin:	n/a
9	chr11:63581433-63581483	HEEpiC	esophagus:	n/a
10	chr11:63585213-63585263	SK-N-SH	brain:	n/a
11	chr11:63581631-63581681	SAEC	small airway:	n/a
12	chr11:63581433-63581483	BJ	skin:	n/a
13	chr11:63581739-63581789	AG09309	skin:	n/a
14	chr11:63581814-63581864	Hepatocyte	liver:	n/a
15	chr11:63581739-63581789	PrEC	prostate:	n/a
16	chr11:63585213-63585263	K562	blood:	n/a
17	chr11:63581631-63581681	GM19239	blood:	n/a
18	chr11:63581433-63581483	MCF-7	breast:	n/a
19	chr11:63581814-63581864	AG10803	skin:	n/a
20	chr11:63585213-63585263	GM19239	blood:	n/a
21	chr11:63581433-63581483	ProgFib	skin:	n/a
22	chr11:63581739-63581789	HCPEpiC	choroid plexus:	n/a
23	chr11:63585213-63585263	BE2_C	brain:	n/a
24	chr11:63581739-63581789	AG10803	skin:	n/a
25	chr11:63585213-63585263	PFSK-1	brain:	n/a
26	chr11:63585213-63585263	H1-hESC	embryonic stem cell:	embryo
27	chr11:63581631-63581681	Hepatocyte	liver:	n/a
28	chr11:63585213-63585263	HEEpiC	esophagus:	n/a
29	chr11:63581631-63581681	RPTEC	kidney:	n/a
30	chr11:63581739-63581789	ProgFib	skin:	n/a
31	chr11:63581433-63581483	PANC-1	pancreas:	n/a
32	chr11:63581814-63581864	SK-N-MC	brain:	n/a
33	chr11:63581814-63581864	SKMC	muscle:	n/a
34	chr11:63581814-63581864	GM12892	blood:	n/a
35	chr11:63581631-63581681	PrEC	prostate:	n/a
36	chr11:63581814-63581864	NHDF-neo	bronchial:	n/a
37	chr11:63581433-63581483	HNPCEpiC	eye:	n/a
38	chr11:63581631-63581681	HUVEC	blood vessel:	n/a
39	chr11:63585213-63585263	HIPEpiC	eye:	n/a
40	chr11:63581631-63581681	NT2-D1	testis:	n/a
41	chr11:63581739-63581789	MCF-7	breast:	n/a
42	chr11:63581433-63581483	HepG2	liver:	n/a
43	chr11:63585213-63585263	AG10803	skin:	n/a
44	chr11:63585213-63585263	IMR90	lung:	fetal
45	chr11:63585213-63585263	U87	brain:	n/a
46	chr11:63581433-63581483	AG04450	lung:	fetal
47	chr11:63581433-63581483	IMR90	lung:	fetal
48	chr11:63585213-63585263	HRPEpiC	eye:	n/a
49	chr11:63581814-63581864	T-47D	breast:	n/a
50	chr11:63581433-63581483	PrEC	prostate:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63580495..63581496-chr14:105956780..105958017,3	Hela-S3	cervix:
2	chr11:63580176..63582428-chr11:63682563..63684680,2	K562	blood:
3	chr11:63579621..63581291-chr11:63753774..63755303,2	MCF-7	breast:
4	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
5	chr11:63580678..63581483-chrX:19002609..19003358,2	Hela-S3	cervix:
6	chr11:63535333..63536207-chr11:63581006..63582322,3	MCF-7	breast:
7	chr11:63580673..63581365-chr5:32444535..32445243,2	NB4	blood:
8	chr11:63436319..63439202-chr11:63579775..63581446,2	MCF-7	breast:
9	chr11:63535590..63537125-chr11:63584534..63586620,2	MCF-7	breast:
10	chr11:63579193..63582428-chr11:63682051..63685961,4	K562	blood:
11	chr11:63448233..63451551-chr11:63578408..63582128,5	K562	blood:
12	chr11:63585113..63586704-chr11:63741923..63744002,2	MCF-7	breast:
13	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:
14	chr11:63581485..63582340-chr5:43483433..43484029,2	Hela-S3	cervix:
15	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
16	chr11:63582446..63585592-chr11:63592203..63594925,4	K562	blood:
17	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
18	chr11:63583208..63585692-chr11:63586410..63588060,2	MCF-7	breast:
19	chr11:63580406..63581266-chr2:100105797..100106443,2	MCF-7	breast:
20	chr11:63582446..63584284-chr11:63593106..63594925,2	K562	blood:
21	chr11:62520403..62522717-chr11:63579678..63581641,2	MCF-7	breast:
22	chr11:63581060..63583015-chr11:63654229..63655873,2	MCF-7	breast:
23	chr11:63535403..63536236-chr11:63580885..63581952,3	MCF-7	breast:
24	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
25	chr11:63582237..63585723-chr11:63588277..63590938,5	MCF-7	breast:
26	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
27	chr11:63580858..63581436-chr5:40834265..40835260,2	Hela-S3	cervix:
28	chr11:63583415..63585834-chr11:63596910..63599617,2	K562	blood:
29	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
30	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
31	chr11:63581119..63583081-chr11:63638472..63640533,2	K562	blood:
32	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
33	chr11:63437085..63438927-chr11:63580871..63582709,2	MCF-7	breast:
34	chr11:63580937..63581636-chr4:166033563..166034366,2	Hela-S3	cervix:
35	chr11:63448971..63451551-chr11:63580454..63582597,3	K562	blood:
36	chr11:63582150..63582705-chr11:63604619..63605149,2	MCF-7	breast:
37	chr11:63580161..63582030-chr11:63668287..63670430,2	MCF-7	breast:
38	chr11:63580750..63581424-chr9:128003259..128003826,2	Hela-S3	cervix:
39	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
40	chr11:63580299..63582440-chr11:63655697..63658299,3	K562	blood:

No data

Variant related genes	Relation type
C11orf84	TF binding region
C11orf84	CpG island
ENSG00000145592	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000056097	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000167770	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000149743	chromatin interactions
ENSG00000044446	chromatin interactions
ENSG00000133318	chromatin interactions
ENSG00000135945	chromatin interactions
ENSG00000185670	chromatin interactions
ENSG00000072518	chromatin interactions
ENSG00000149761	chromatin interactions
ENSG00000184743	chromatin interactions
ENSG00000170088	chromatin interactions
ENSG00000188070	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000167771	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000255651	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs150459678	chr11:63581254-63581255	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs138489782	chr11:63581285-63581286	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs200066695	chr11:63581292-63581293	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs377157981	chr11:63581299-63581300	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs367917870	chr11:63581314-63581315	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
6	rs551061863	chr11:63581326-63581327	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs370699770	chr11:63581330-63581331	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs571105327	chr11:63581351-63581352	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs149262563	chr11:63581372-63581373	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs553636882	chr11:63581400-63581401	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs376451375	chr11:63581407-63581408	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs567581171	chr11:63581412-63581413	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs144456378	chr11:63581430-63581431	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs555698350	chr11:63581450-63581451	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs555946289	chr11:63581474-63581475	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs36077346	chr11:63581514-63581515	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs544671420	chr11:63581517-63581518	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs192690990	chr11:63581622-63581623	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs36087553	chr11:63581651-63581652	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs529405073	chr11:63581672-63581673	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs7118198	chr11:63581673-63581674	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs3016219	chr11:63581683-63581684	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs540857027	chr11:63581687-63581688	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs560541893	chr11:63581713-63581714	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs529557324	chr11:63581729-63581730	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs397848558	chr11:63581742-63581743	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs7942889	chr11:63581771-63581772	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs574643468	chr11:63581792-63581793	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs551608183	chr11:63581807-63581808	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs139090600	chr11:63581836-63581837	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs142703558	chr11:63581938-63581939	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs3740635	chr11:63581997-63581998	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs146033484	chr11:63582089-63582090	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs3016220	chr11:63582097-63582098	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs547163550	chr11:63582099-63582100	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs567368217	chr11:63582131-63582132	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs533400670	chr11:63582210-63582211	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs144491491	chr11:63582212-63582213	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs536506158	chr11:63582246-63582247	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs538589410	chr11:63582282-63582283	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs556188582	chr11:63582322-63582323	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs184281882	chr11:63582331-63582332	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs142176698	chr11:63582360-63582361	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs558260350	chr11:63582366-63582367	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs535785388	chr11:63582386-63582387	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs534302804	chr11:63582440-63582441	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs554653218	chr11:63582449-63582450	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs201895400	chr11:63582472-63582473	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs75939486	chr11:63582478-63582479	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs67702642	chr11:63582479-63582480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	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
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Breast cancer	22522925	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63579200-63581800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr11:63579400-63582200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:63579600-63581800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:63579800-63582600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:63580000-63581800	Active TSS	Brain Substantia Nigra	brain
6	chr11:63580000-63582000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:63580000-63582000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:63580000-63582000	Active TSS	Fetal Kidney	kidney
9	chr11:63580000-63582000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:63580000-63582200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:63580200-63581600	Active TSS	Psoas Muscle	Psoas
12	chr11:63580200-63582000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:63580200-63582200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:63580200-63582200	Active TSS	HepG2	liver
15	chr11:63580200-63582600	Active TSS	Right Atrium	heart
16	chr11:63580400-63581800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:63580400-63581800	Active TSS	Aorta	Aorta
18	chr11:63580400-63581800	Active TSS	Brain Angular Gyrus	brain
19	chr11:63580400-63581800	Active TSS	Brain Anterior Caudate	brain
20	chr11:63580400-63581800	Active TSS	Brain Hippocampus Middle	brain
21	chr11:63580400-63581800	Active TSS	Fetal Brain Female	brain
22	chr11:63580400-63581800	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:63580400-63582000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:63580400-63582000	Active TSS	Fetal Heart	heart
25	chr11:63580400-63582000	Active TSS	Gastric	stomach
26	chr11:63580400-63582200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63580400-63582200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63580400-63582200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:63580400-63582200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:63580400-63582200	Active TSS	Lung	lung
31	chr11:63580400-63582200	Active TSS	A549	lung
32	chr11:63580400-63582200	Active TSS	NHDF-Ad	bronchial
33	chr11:63580400-63582400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:63580400-63582800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:63580600-63581200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:63580600-63581200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:63580600-63581200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:63580600-63581200	Weak transcription	Fetal Brain Male	brain
39	chr11:63580600-63581200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:63580600-63581200	Weak transcription	Stomach Mucosa	stomach
41	chr11:63580600-63581400	Active TSS	Primary B cells from peripheral blood	blood
42	chr11:63580600-63581400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:63580600-63581400	Active TSS	Stomach Smooth Muscle	stomach
44	chr11:63580600-63581400	Active TSS	Spleen	Spleen
45	chr11:63580600-63581600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:63580600-63581600	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr11:63580600-63581600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:63580600-63581600	Active TSS	Pancreas	Pancrea
49	chr11:63580600-63581600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr11:63580600-63581600	Active TSS	Right Ventricle	heart

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