Variant report

Variant	nsv1052073
Chromosome Location	chr11:57297499-57362802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1828)
CpG islands
(count:2078)
Chromatin interactive
region (count:56)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1828 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:57335854-57335901	K562	blood:	n/a	n/a
2	ARID3A	chr11:57298071-57299806	K562	blood:	n/a	n/a
3	ARID3A	chr11:57298030-57298828	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:57336838-57337029	K562	blood:	n/a	n/a
5	ARID3A	chr11:57320050-57320231	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:57314781-57314826	HepG2	liver:	n/a	n/a
7	ATF1	chr11:57298084-57299030	K562	blood:	n/a	n/a
8	ATF2	chr11:57297975-57298687	GM12878	blood:	n/a	n/a
9	ATF2	chr11:57297961-57298857	GM12878	blood:	n/a	n/a
10	ATF2	chr11:57335531-57336062	GM12878	blood:	n/a	n/a
11	ATF2	chr11:57335581-57336051	GM12878	blood:	n/a	n/a
12	ATF2	chr11:57335317-57335794	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr11:57297994-57298651	A549	lung:	n/a	n/a
14	ATF3	chr11:57299578-57299831	K562	blood:	n/a	n/a
15	ATF3	chr11:57298142-57298641	A549	lung:	n/a	n/a
16	BACH1	chr11:57298602-57298902	K562	blood:	n/a	n/a
17	BACH1	chr11:57336897-57337145	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr11:57298402-57298857	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr11:57335363-57335910	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr11:57314651-57314930	GM12878	blood:	n/a	chr11:57314767-57314778 chr11:57314768-57314778
21	BATF	chr11:57335646-57335939	GM12878	blood:	n/a	n/a
22	BATF	chr11:57314523-57314976	GM12878	blood:	n/a	chr11:57314767-57314778 chr11:57314768-57314778
23	BCL3	chr11:57297517-57298779	A549	lung:	n/a	n/a
24	BCL3	chr11:57322048-57322351	GM12878	blood:	n/a	n/a
25	BCL3	chr11:57297974-57298657	A549	lung:	n/a	n/a
26	BCLAF1	chr11:57297996-57298695	GM12878	blood:	n/a	n/a
27	BCLAF1	chr11:57335549-57335981	GM12878	blood:	n/a	chr11:57335823-57335831 chr11:57335942-57335951
28	BCLAF1	chr11:57297627-57298871	GM12878	blood:	n/a	n/a
29	BCLAF1	chr11:57298032-57298928	K562	blood:	n/a	n/a
30	BCLAF1	chr11:57297761-57298635	K562	blood:	n/a	n/a
31	BCLAF1	chr11:57335533-57336054	GM12878	blood:	n/a	chr11:57335823-57335831 chr11:57335942-57335951
32	BHLHE40	chr11:57333556-57333963	GM12878	blood:	n/a	n/a
33	BHLHE40	chr11:57298061-57299022	K562	blood:	n/a	n/a
34	BHLHE40	chr11:57337023-57337058	K562	blood:	n/a	n/a
35	BHLHE40	chr11:57333607-57333901	K562	blood:	n/a	n/a
36	BHLHE40	chr11:57298080-57298995	GM12878	blood:	n/a	n/a
37	BHLHE40	chr11:57315295-57315918	GM12878	blood:	n/a	n/a
38	BHLHE40	chr11:57335303-57335961	K562	blood:	n/a	chr11:57335454-57335470
39	BHLHE40	chr11:57314669-57314869	GM12878	blood:	n/a	n/a
40	BRCA1	chr11:57297949-57298526	GM12878	blood:	n/a	n/a
41	BRCA1	chr11:57298051-57298923	Hela-S3	cervix:	n/a	n/a
42	CBX3	chr11:57314560-57314945	K562	blood:	n/a	n/a
43	CBX3	chr11:57297655-57298060	K562	blood:	n/a	n/a
44	CBX3	chr11:57335613-57335984	K562	blood:	n/a	n/a
45	CBX3	chr11:57336812-57337176	K562	blood:	n/a	n/a
46	CBX3	chr11:57297462-57299098	K562	blood:	n/a	chr11:57298991-57299002
47	CCNT2	chr11:57335183-57335896	K562	blood:	n/a	n/a
48	CCNT2	chr11:57298219-57299082	K562	blood:	n/a	n/a
49	CEBPB	chr11:57320799-57320948	IMR90	lung:	n/a	n/a
50	CEBPB	chr11:57312080-57312297	K562	blood:	n/a	chr11:57312244-57312255

(count:2078 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57335675-57335725	AG10803	skin:	n/a
2	chr11:57298432-57298482	HEK293	kidney:	embryo
3	chr11:57332013-57332063	ovcar-3	ovarian:	n/a
4	chr11:57319872-57319922	CMK	blood:	n/a
5	chr11:57335675-57335725	AG10803	skin:	n/a
6	chr11:57298432-57298482	HEK293	kidney:	embryo
7	chr11:57332013-57332063	ovcar-3	ovarian:	n/a
8	chr11:57319872-57319922	CMK	blood:	n/a
9	chr11:57335356-57335406	AG04450	lung:	fetal
10	chr11:57333612-57333662	HRE	kidney:	n/a
11	chr11:57298543-57298593	BJ	skin:	n/a
12	chr11:57304885-57304935	AG04449	skin:	fetal
13	chr11:57298307-57298357	ProgFib	skin:	n/a
14	chr11:57298594-57298644	PANC-1	pancreas:	n/a
15	chr11:57335150-57335200	RPTEC	kidney:	n/a
16	chr11:57335606-57335656	HL-60	blood:	n/a
17	chr11:57335051-57335101	ovcar-3	ovarian:	n/a
18	chr11:57304885-57304935	AG10803	skin:	n/a
19	chr11:57335730-57335780	HCPEpiC	choroid plexus:	n/a
20	chr11:57335730-57335780	IMR90	lung:	fetal
21	chr11:57313734-57313784	CMK	blood:	n/a
22	chr11:57336941-57336991	SK-N-SH	brain:	n/a
23	chr11:57310571-57310621	GM12891	blood:	n/a
24	chr11:57336941-57336991	AG04449	skin:	fetal
25	chr11:57304885-57304935	HCPEpiC	choroid plexus:	n/a
26	chr11:57335585-57335635	ovcar-3	ovarian:	n/a
27	chr11:57319326-57319376	RPTEC	kidney:	n/a
28	chr11:57335051-57335101	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:57335150-57335200	HCT-116	colon:	n/a
30	chr11:57310571-57310621	Hela-S3	cervix:	n/a
31	chr11:57298432-57298482	IMR90	lung:	fetal
32	chr11:57298432-57298482	HCM	heart:	n/a
33	chr11:57319326-57319376	H1-hESC	embryonic stem cell:	embryo
34	chr11:57335140-57335190	GM12891	blood:	n/a
35	chr11:57319326-57319376	K562	blood:	n/a
36	chr11:57298543-57298593	AG09309	skin:	n/a
37	chr11:57298301-57298351	A549	lung:	n/a
38	chr11:57335585-57335635	HCM	heart:	n/a
39	chr11:57308609-57308659	PrEC	prostate:	n/a
40	chr11:57310571-57310621	NT2-D1	testis:	n/a
41	chr11:57319326-57319376	HCT-116	colon:	n/a
42	chr11:57308888-57308938	RPTEC	kidney:	n/a
43	chr11:57335585-57335635	IMR90	lung:	fetal
44	chr11:57333612-57333662	NHDF-neo	bronchial:	n/a
45	chr11:57335675-57335725	IMR90	lung:	fetal
46	chr11:57308952-57309002	NT2-D1	testis:	n/a
47	chr11:57298543-57298593	IMR90	lung:	fetal
48	chr11:57313734-57313784	HMEC	breast:	n/a
49	chr11:57298081-57298131	SAEC	small airway:	n/a
50	chr11:57335051-57335101	H1-hESC	embryonic stem cell:	embryo

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:57334877..57336760-chr11:57434606..57436554,2	MCF-7	breast:
2	chr11:57082825..57084947-chr11:57296049..57298062,2	K562	blood:
3	chr11:57296819..57301795-chr11:57434465..57437903,4	K562	blood:
4	chr11:57225517..57229165-chr11:57295790..57298188,3	K562	blood:
5	chr11:57334543..57336941-chr11:57357836..57360654,2	K562	blood:
6	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
7	chr11:57225401..57228536-chr11:57297717..57300309,4	K562	blood:
8	chr11:57319867..57321900-chr11:57327404..57329278,2	K562	blood:
9	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:
10	chr11:57335649..57336286-chr11:57413903..57414633,2	MCF-7	breast:
11	chr11:57351417..57353651-chr11:57356076..57358171,2	K562	blood:
12	chr11:57322219..57325038-chr11:57326684..57330533,3	MCF-7	breast:
13	chr11:57333149..57335001-chr11:57423752..57425633,2	MCF-7	breast:
14	chr11:57258661..57259261-chr11:57328962..57329548,2	MCF-7	breast:
15	chr11:57298175..57301007-chr11:57311281..57313824,2	K562	blood:
16	chr11:57190585..57194081-chr11:57295965..57298665,6	K562	blood:
17	chr11:57294877..57297638-chr11:57477867..57480575,2	K562	blood:
18	chr11:57328509..57330286-chr11:57332816..57335358,2	K562	blood:
19	chr11:57351417..57353651-chr11:57356076..57358171,2	K562	blood:
20	chr11:57190585..57193869-chr11:57296385..57298665,4	K562	blood:
21	chr11:57224499..57227061-chr11:57335779..57338545,2	K562	blood:
22	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
23	chr11:57358699..57361621-chr11:57412591..57415066,2	K562	blood:
24	chr11:57320019..57321900-chr11:57327582..57330146,3	K562	blood:
25	chr11:57334539..57338384-chr11:57406664..57411574,5	MCF-7	breast:
26	chr11:57296541..57298189-chr11:57320767..57323633,2	K562	blood:
27	chr11:57298163..57300206-chr11:57300287..57302830,3	K562	blood:
28	chr11:57299281..57301007-chr11:57311388..57313824,2	K562	blood:
29	chr11:57296541..57298189-chr11:57320767..57323633,2	K562	blood:
30	chr11:57318967..57320703-chr11:57326356..57328745,2	MCF-7	breast:
31	chr11:57340284..57342621-chr11:57408042..57409998,2	K562	blood:
32	chr11:57325867..57327995-chr11:57414658..57417368,2	K562	blood:
33	chr11:57226847..57229273-chr11:57333715..57336392,3	K562	blood:
34	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
35	chr11:57299281..57301007-chr11:57311388..57313824,2	K562	blood:
36	chr11:57308278..57310197-chr11:57313267..57314907,2	K562	blood:
37	chr11:57296719..57299374-chr11:57308110..57310728,2	K562	blood:
38	chr11:57360255..57362269-chr11:57364143..57365780,2	K562	blood:
39	chr11:57335100..57336885-chr11:57425174..57426738,2	K562	blood:
40	chr11:57335159..57336937-chr11:57405582..57407248,2	MCF-7	breast:
41	chr11:57327644..57330005-chr11:57333922..57337612,3	MCF-7	breast:
42	chr11:57327395..57330441-chr11:57334291..57337676,3	K562	blood:
43	chr11:57297426..57300384-chr11:57328449..57331684,3	K562	blood:
44	chr11:57327395..57330441-chr11:57334291..57337676,3	K562	blood:
45	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
46	chr11:57335355..57336298-chr11:57408531..57409635,7	K562	blood:
47	chr11:57336503..57337044-chr11:57408560..57409853,3	MCF-7	breast:
48	chr11:57335324..57336323-chr11:57408291..57409695,14	MCF-7	breast:
49	chr11:57312168..57315118-chr11:57412878..57415826,2	K562	blood:
50	chr11:57259488..57262312-chr11:57297158..57299801,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMM10-1	chr11:57298645-57299056	NONHSAT021419
2	lnc-TIMM10-1	chr11:57309889-57309993	NONHSAT021419
3	lnc-SERPING1-2	chr11:57316055-57316469	expReg_chr11_4539_+
4	lnc-SERPING1-3	chr11:57312033-57312260	expReg_chr11_4527_+
5	lnc-SMTNL1-1	chr11:57299739-57299980	expReg_chr11_4488_+

No data

Variant related genes	Relation type
SMTNL1	TF binding region
UBE2L6	TF binding region
TIMM10	TF binding region
SERPING1	TF binding region
RPS4XP13	TF binding region
SMTNL1	CpG island
UBE2L6	CpG island
TIMM10	CpG island
SERPING1	CpG island
RPS4XP13	CpG island
ENSG00000208009	chromatin interactions
ENSG00000166793	chromatin interactions
ENSG00000255073	chromatin interactions
ENSG00000172409	chromatin interactions
ENSG00000134809	chromatin interactions
ENSG00000149150	chromatin interactions
ENSG00000134802	chromatin interactions
ENSG00000254462	chromatin interactions
ENSG00000254979	chromatin interactions
ENSG00000156587	chromatin interactions
ENSG00000156603	chromatin interactions
ENSG00000214872	chromatin interactions
ENSG00000149131	chromatin interactions
ENSG00000186660	chromatin interactions
ENSG00000186907	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000254602	chromatin interactions
ENSG00000213593	chromatin interactions

Extended variants
information (count: 2386 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2386 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551438495	chr11:57297509-57297510	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs376480486	chr11:57297562-57297563	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs368127086	chr11:57297569-57297570	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs200877008	chr11:57297574-57297575	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs371734344	chr11:57297579-57297580	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs375982922	chr11:57297581-57297582	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs369664799	chr11:57297587-57297588	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs145279749	chr11:57297612-57297613	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs145077770	chr11:57297647-57297648	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs539893	chr11:57297651-57297652	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534123521	chr11:57297677-57297678	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs371734798	chr11:57297683-57297684	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs373548313	chr11:57297694-57297695	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs549697628	chr11:57297704-57297705	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs113138790	chr11:57297709-57297710	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs113118872	chr11:57297710-57297711	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs537857922	chr11:57297717-57297718	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs556163781	chr11:57297733-57297734	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs577837180	chr11:57297738-57297739	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs192646714	chr11:57297739-57297740	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs114665323	chr11:57297752-57297753	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs572249112	chr11:57297827-57297828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs542409195	chr11:57297834-57297835	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs561243341	chr11:57297852-57297853	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs576220532	chr11:57297936-57297937	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs557181211	chr11:57297942-57297943	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs573382445	chr11:57297971-57297972	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs544220965	chr11:57298004-57298005	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs562570631	chr11:57298011-57298012	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs184201087	chr11:57298021-57298022	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs542321086	chr11:57298035-57298036	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs370599775	chr11:57298047-57298048	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs533139958	chr11:57298055-57298056	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs57769499	chr11:57298144-57298145	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560380966	chr11:57298211-57298212	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs527891409	chr11:57298216-57298217	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs549269944	chr11:57298250-57298251	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs567964787	chr11:57298253-57298254	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs12801093	chr11:57298287-57298288	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs550476350	chr11:57298386-57298387	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs35307619	chr11:57298399-57298400	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs571299605	chr11:57298432-57298433	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs538630828	chr11:57298433-57298434	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs553831652	chr11:57298434-57298435	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs35915913	chr11:57298525-57298526	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs146277692	chr11:57298530-57298531	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs572003136	chr11:57298543-57298544	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs190704110	chr11:57298572-57298573	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs117526191	chr11:57298602-57298603	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs181940816	chr11:57298612-57298613	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Angio-oedema	21790735	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57292600-57297600	Weak transcription	Aorta	Aorta
2	chr11:57296400-57297600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:57296600-57297600	Enhancers	Spleen	Spleen
4	chr11:57296600-57298000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr11:57296800-57297600	Transcr. at gene 5' and 3'	K562	blood
6	chr11:57296800-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:57296800-57298200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:57297000-57297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:57297000-57297600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:57297000-57297600	Enhancers	Small Intestine	intestine
11	chr11:57297000-57297600	Enhancers	Stomach Mucosa	stomach
12	chr11:57297000-57297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:57297000-57297800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:57297000-57297800	Flanking Active TSS	HMEC	breast
15	chr11:57297000-57297800	Flanking Active TSS	NHEK	skin
16	chr11:57297000-57298000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:57297000-57298200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:57297000-57299200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:57297200-57297600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:57297200-57297600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:57297200-57297600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:57297200-57297600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:57297200-57297600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:57297200-57297600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:57297200-57297600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:57297200-57297600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:57297200-57297600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:57297200-57297600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:57297200-57297600	Enhancers	Fetal Heart	heart
30	chr11:57297200-57297600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:57297200-57297600	Flanking Active TSS	HepG2	liver
32	chr11:57297200-57297800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr11:57297200-57297800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:57297200-57297800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:57297200-57297800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:57297200-57297800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:57297200-57297800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:57297200-57297800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:57297200-57297800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:57297200-57297800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:57297200-57297800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr11:57297200-57297800	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr11:57297200-57297800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr11:57297200-57297800	Flanking Active TSS	Fetal Brain Female	brain
45	chr11:57297200-57297800	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr11:57297200-57297800	Flanking Active TSS	Fetal Lung	lung
47	chr11:57297200-57297800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr11:57297200-57297800	Flanking Active TSS	Hela-S3	cervix
49	chr11:57297200-57297800	Flanking Active TSS	HSMM	muscle
50	chr11:57297200-57297800	Flanking Active TSS	NHDF-Ad	bronchial

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