Variant report

Variant	esv3356175
Chromosome Location	chr11:59382001-59384549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:741)
CpG islands
(count:915)
Chromatin interactive
region (count:28)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:59383035-59384303	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:59383156-59384444	K562	blood:	n/a	n/a
3	ATF1	chr11:59383083-59384181	K562	blood:	n/a	n/a
4	ATF2	chr11:59383077-59384207	GM12878	blood:	n/a	n/a
5	ATF2	chr11:59383222-59383838	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:59383226-59384152	GM12878	blood:	n/a	n/a
7	ATF3	chr11:59383151-59383466	H1-hESC	embryonic stem cell:	n/a	chr11:59383244-59383253
8	ATF3	chr11:59383325-59383804	A549	lung:	n/a	chr11:59383589-59383609
9	ATF3	chr11:59383031-59383774	K562	blood:	n/a	chr11:59383244-59383253 chr11:59383589-59383609
10	BACH1	chr11:59383646-59383928	K562	blood:	n/a	n/a
11	BACH1	chr11:59383325-59383851	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr11:59383379-59383785	GM12878	blood:	n/a	n/a
13	BHLHE40	chr11:59382742-59382817	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:59383108-59384395	GM12878	blood:	n/a	chr11:59383252-59383268
15	BHLHE40	chr11:59382040-59382371	K562	blood:	n/a	n/a
16	BHLHE40	chr11:59383143-59384256	K562	blood:	n/a	chr11:59383252-59383268
17	BHLHE40	chr11:59383514-59384214	A549	lung:	n/a	n/a
18	BRCA1	chr11:59383200-59383711	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr11:59383149-59383924	GM12878	blood:	n/a	n/a
20	BRCA1	chr11:59383094-59383608	HepG2	liver:	n/a	n/a
21	BRCA1	chr11:59383112-59384130	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr11:59383082-59384392	K562	blood:	n/a	n/a
23	CCNT2	chr11:59383821-59384283	K562	blood:	n/a	n/a
24	CCNT2	chr11:59382240-59383537	K562	blood:	n/a	chr11:59382575-59382584 chr11:59382536-59382556
25	CEBPB	chr11:59382578-59382831	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:59383209-59384082	Hela-S3	cervix:	n/a	chr11:59383540-59383548
27	CEBPB	chr11:59383213-59384087	IMR90	lung:	n/a	chr11:59383540-59383548
28	CEBPB	chr11:59383491-59383987	K562	blood:	n/a	chr11:59383540-59383548
29	CEBPZ	chr11:59383181-59384028	HepG2	liver:	n/a	n/a
30	CHD1	chr11:59383039-59383364	GM12878	blood:	n/a	n/a
31	CHD1	chr11:59383869-59384257	GM12878	blood:	n/a	n/a
32	CHD1	chr11:59383839-59384227	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr11:59382474-59382715	GM12878	blood:	n/a	n/a
34	CHD2	chr11:59383015-59384265	GM12878	blood:	n/a	n/a
35	CHD2	chr11:59382604-59382819	K562	blood:	n/a	n/a
36	CHD2	chr11:59382402-59382798	GM12878	blood:	n/a	n/a
37	CHD2	chr11:59383074-59384025	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr11:59382682-59382871	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr11:59382523-59382832	HepG2	liver:	n/a	n/a
40	CHD2	chr11:59383088-59383953	HepG2	liver:	n/a	n/a
41	CHD2	chr11:59382454-59384139	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr11:59383093-59384133	K562	blood:	n/a	n/a
43	CREB1	chr11:59382804-59384140	K562	blood:	n/a	chr11:59383587-59383600
44	CREB1	chr11:59383028-59383943	A549	lung:	n/a	chr11:59383587-59383600
45	CREB1	chr11:59382462-59382829	A549	lung:	n/a	n/a
46	CREB1	chr11:59382924-59384031	A549	lung:	n/a	chr11:59383587-59383600
47	CREB1	chr11:59382981-59384124	ECC-1	luminal epithelium:	n/a	chr11:59383587-59383600
48	CREB1	chr11:59382951-59384128	H1-hESC	embryonic stem cell:	n/a	chr11:59383587-59383600
49	CREB1	chr11:59382973-59384301	GM12878	blood:	n/a	chr11:59383587-59383600
50	CREB1	chr11:59382978-59384086	ECC-1	luminal epithelium:	n/a	chr11:59383587-59383600

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59383768-59383818	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:59384268-59384318	Hepatocyte	liver:	n/a
3	chr11:59382818-59382868	AG09309	skin:	n/a
4	chr11:59382758-59382808	ovcar-3	ovarian:	n/a
5	chr11:59383312-59383362	AG09319	gingival:	n/a
6	chr11:59383203-59383253	HCF	heart:	n/a
7	chr11:59384084-59384134	PrEC	prostate:	n/a
8	chr11:59384084-59384134	SK-N-MC	brain:	n/a
9	chr11:59382758-59382808	NHBE	bronchial:	n/a
10	chr11:59382296-59382346	Hepatocyte	liver:	n/a
11	chr11:59383312-59383362	HCF	heart:	n/a
12	chr11:59382296-59382346	Jurkat	blood:	n/a
13	chr11:59382758-59382808	AG09309	skin:	n/a
14	chr11:59382296-59382346	Hela-S3	cervix:	n/a
15	chr11:59383203-59383253	NT2-D1	testis:	n/a
16	chr11:59382758-59382808	Hela-S3	cervix:	n/a
17	chr11:59383203-59383253	Jurkat	blood:	n/a
18	chr11:59383828-59383878	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:59383689-59383739	BJ	skin:	n/a
20	chr11:59383828-59383878	RPTEC	kidney:	n/a
21	chr11:59382758-59382808	H1-hESC	embryonic stem cell:	embryo
22	chr11:59382296-59382346	RPTEC	kidney:	n/a
23	chr11:59383689-59383739	HEEpiC	esophagus:	n/a
24	chr11:59382296-59382346	AoSMC	blood vessel:	n/a
25	chr11:59382296-59382346	BE2_C	brain:	n/a
26	chr11:59383409-59383459	LNCaP	prostate:	n/a
27	chr11:59383888-59383938	AG04450	lung:	fetal
28	chr11:59384268-59384318	HNPCEpiC	eye:	n/a
29	chr11:59383689-59383739	GM19239	blood:	n/a
30	chr11:59383312-59383362	IMR90	lung:	fetal
31	chr11:59382758-59382808	Caco-2	colon:	n/a
32	chr11:59382877-59382927	MCF-7	breast:	n/a
33	chr11:59383689-59383739	Hela-S3	cervix:	n/a
34	chr11:59384084-59384134	AG04450	lung:	fetal
35	chr11:59383409-59383459	GM12878	blood:	n/a
36	chr11:59383068-59383118	HNPCEpiC	eye:	n/a
37	chr11:59382758-59382808	MCF10A-Er-Src	breast:	n/a
38	chr11:59383203-59383253	NB4	blood:	n/a
39	chr11:59383888-59383938	U87	brain:	n/a
40	chr11:59384268-59384318	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:59382818-59382868	HEEpiC	esophagus:	n/a
42	chr11:59384268-59384318	GM06990	blood:	n/a
43	chr11:59383768-59383818	ECC-1	luminal epithelium:	n/a
44	chr11:59382296-59382346	MCF-7	breast:	n/a
45	chr11:59382296-59382346	HepG2	liver:	n/a
46	chr11:59382758-59382808	SAEC	small airway:	n/a
47	chr11:59382877-59382927	SK-N-MC	brain:	n/a
48	chr11:59382296-59382346	GM12878	blood:	n/a
49	chr11:59382758-59382808	AG04450	lung:	fetal
50	chr11:59383828-59383878	HAEpiC	amniotic membrane:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:59379949..59382151-chr11:59418599..59421025,2	MCF-7	breast:
2	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
3	chr11:59379146..59381021-chr11:59381463..59383297,2	MCF-7	breast:
4	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:
5	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
6	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
7	chr11:59322188..59323808-chr11:59380792..59382700,2	K562	blood:
8	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
9	chr11:59382346..59384021-chr11:59576839..59579644,2	K562	blood:
10	chr11:59380994..59383091-chr11:59446545..59448432,2	K562	blood:
11	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
12	chr11:59313058..59315835-chr11:59384202..59386133,2	K562	blood:
13	chr11:59369187..59371019-chr11:59381585..59383481,2	MCF-7	breast:
14	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
15	chr11:59357778..59359857-chr11:59379899..59383236,3	K562	blood:
16	chr11:59327475..59330060-chr11:59381628..59383602,2	K562	blood:
17	chr11:59332034..59337600-chr11:59380778..59383923,5	K562	blood:
18	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
19	chr11:59382737..59383278-chr13:111365369..111365914,2	Hela-S3	cervix:
20	chr11:59383955..59385521-chr11:59435044..59437957,2	MCF-7	breast:
21	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
22	chr1:23670573..23671130-chr11:59382477..59382982,2	Hela-S3	cervix:
23	chr11:59379168..59382086-chr11:59390043..59391768,2	MCF-7	breast:
24	chr11:59364283..59366462-chr11:59380493..59382759,2	MCF-7	breast:
25	chr11:59324538..59326283-chr11:59383295..59385264,2	K562	blood:
26	chr11:59382728..59383524-chr6:31783159..31783746,2	Hela-S3	cervix:
27	chr11:59352549..59354078-chr11:59384301..59386875,2	K562	blood:
28	chr11:59382734..59385576-chr11:59440781..59442919,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX3-2	chr11:59383902-59383947	ENSG00000255139.1
2	lnc-STX3-2	chr11:59383619-59385512	NONHSAT021532

No data

Variant related genes	Relation type
ENSG00000255139	TF binding region
OSBP	TF binding region
ENSG00000255139	CpG island
OSBP	CpG island
ENSG00000125944	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000254477	chromatin interactions
ENSG00000255355	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000166902	chromatin interactions
ENSG00000166889	chromatin interactions
ENSG00000252893	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000255139	chromatin interactions
ENSG00000166900	chromatin interactions
ENSG00000110048	chromatin interactions
ENSG00000255008	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567682478	chr11:59382003-59382004	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs182761118	chr11:59382005-59382006	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs150986637	chr11:59382008-59382009	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs576645750	chr11:59382037-59382038	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs34060323	chr11:59382062-59382063	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs371029281	chr11:59382107-59382108	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs140052410	chr11:59382157-59382158	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs558880618	chr11:59382210-59382211	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs187730097	chr11:59382215-59382216	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs114714187	chr11:59382243-59382244	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs574857242	chr11:59382253-59382254	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs541836499	chr11:59382296-59382297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs12289921	chr11:59382306-59382307	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530708714	chr11:59382343-59382344	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs192902881	chr11:59382370-59382371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs554703651	chr11:59382404-59382405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs143720973	chr11:59382406-59382407	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs528283639	chr11:59382415-59382416	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs546259395	chr11:59382441-59382442	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs117769568	chr11:59382450-59382451	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs538858098	chr11:59382456-59382457	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs555611305	chr11:59382470-59382471	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs12276505	chr11:59382514-59382515	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114692561	chr11:59382518-59382519	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs537298082	chr11:59382520-59382521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs559211311	chr11:59382606-59382607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs571024431	chr11:59382636-59382637	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs535255474	chr11:59382680-59382681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs553631615	chr11:59382687-59382688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs183991334	chr11:59382695-59382696	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs376802022	chr11:59382735-59382736	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs542353159	chr11:59382760-59382761	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs373321771	chr11:59382763-59382764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs557077830	chr11:59382789-59382790	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs374783673	chr11:59382820-59382821	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs201025061	chr11:59382826-59382827	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs200764299	chr11:59382870-59382871	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs201962555	chr11:59382873-59382874	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs528395741	chr11:59382891-59382892	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs200837578	chr11:59382897-59382898	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs561586976	chr11:59382901-59382902	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs528977360	chr11:59382903-59382904	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs550652114	chr11:59382954-59382955	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs568719199	chr11:59383035-59383036	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs532959688	chr11:59383054-59383055	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs534529690	chr11:59383095-59383096	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs552877087	chr11:59383188-59383189	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs188776408	chr11:59383208-59383209	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs1139126	chr11:59383215-59383216	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148228207	chr11:59383222-59383223	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59376400-59382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:59378800-59382200	Enhancers	Fetal Brain Male	brain
3	chr11:59379200-59382200	Enhancers	Small Intestine	intestine
4	chr11:59379400-59382200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:59380000-59382200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:59380000-59384400	Active TSS	Psoas Muscle	Psoas
7	chr11:59380600-59384400	Active TSS	Fetal Muscle Trunk	muscle
8	chr11:59380800-59382400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:59380800-59382600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:59381000-59382200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:59381200-59382200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:59381200-59382400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:59381200-59382400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:59381200-59382400	Flanking Active TSS	Fetal Brain Female	brain
15	chr11:59381200-59382400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:59381200-59382400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
17	chr11:59381200-59382600	Flanking Active TSS	Liver	Liver
18	chr11:59381200-59382600	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr11:59381200-59382600	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr11:59381200-59382600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:59381200-59382800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:59381200-59382800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:59381400-59382200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr11:59381400-59382200	Flanking Active TSS	A549	lung
25	chr11:59381400-59382400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:59381400-59382400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:59381400-59382400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:59381400-59382400	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr11:59381400-59382400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr11:59381400-59382400	Flanking Active TSS	Fetal Lung	lung
31	chr11:59381400-59382400	Flanking Active TSS	Hela-S3	cervix
32	chr11:59381400-59382400	Flanking Active TSS	NHEK	skin
33	chr11:59381400-59382600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:59381400-59382600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:59381400-59382600	Flanking Active TSS	Dnd41	blood
36	chr11:59381400-59382600	Flanking Active TSS	HUVEC	blood vessel
37	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:59381400-59384400	Active TSS	Aorta	Aorta
39	chr11:59381400-59384400	Active TSS	Ovary	ovary
40	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:59381600-59382200	Enhancers	Spleen	Spleen
42	chr11:59381600-59382200	Flanking Active TSS	HepG2	liver
43	chr11:59381600-59382400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:59381600-59382400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:59381600-59382400	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr11:59381600-59382400	Flanking Active TSS	Thymus	Thymus
47	chr11:59381600-59382400	Flanking Active TSS	NH-A	brain
48	chr11:59381600-59382400	Flanking Active TSS	Osteobl	bone
49	chr11:59381600-59382600	Flanking Active TSS	Fetal Heart	heart
50	chr11:59381600-59382600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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