Variant report

Variant	esv3442158
Chromosome Location	chr11:32913401-32916249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1024)
CpG islands
(count:733)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1024 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:32913132-32913996	K562	blood:	n/a	chr11:32913597-32913613
2	ARID3A	chr11:32913427-32913694	HepG2	liver:	n/a	chr11:32913597-32913613
3	ARID3A	chr11:32915738-32916200	HepG2	liver:	n/a	n/a
4	ATF1	chr11:32915664-32916142	K562	blood:	n/a	n/a
5	ATF2	chr11:32913292-32914128	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:32915625-32916189	GM12878	blood:	n/a	n/a
7	ATF2	chr11:32913700-32914254	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:32915613-32916188	GM12878	blood:	n/a	n/a
9	ATF2	chr11:32913742-32914213	GM12878	blood:	n/a	n/a
10	ATF2	chr11:32914760-32915526	GM12878	blood:	n/a	n/a
11	ATF2	chr11:32913808-32914188	GM12878	blood:	n/a	n/a
12	ATF3	chr11:32915769-32916187	K562	blood:	n/a	n/a
13	BACH1	chr11:32913665-32914328	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:32915078-32915472	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr11:32913936-32914116	K562	blood:	n/a	n/a
16	BCL3	chr11:32914015-32914566	GM12878	blood:	n/a	chr11:32914267-32914280 chr11:32914323-32914336 chr11:32914107-32914115 chr11:32914333-32914342
17	BCLAF1	chr11:32913588-32914237	GM12878	blood:	n/a	chr11:32914107-32914115
18	BCLAF1	chr11:32914715-32915492	GM12878	blood:	n/a	chr11:32914772-32914781 chr11:32914805-32914818 chr11:32914799-32914812 chr11:32914811-32914820 chr11:32914808-32914817 chr11:32914806-32914819 chr11:32914889-32914902 chr11:32915061-32915074 chr11:32914805-32914814
19	BCLAF1	chr11:32914768-32915512	GM12878	blood:	n/a	chr11:32914772-32914781 chr11:32914805-32914818 chr11:32914799-32914812 chr11:32914811-32914820 chr11:32914808-32914817 chr11:32914806-32914819 chr11:32914889-32914902 chr11:32915061-32915074 chr11:32914805-32914814
20	BHLHE40	chr11:32913436-32914499	K562	blood:	n/a	n/a
21	BHLHE40	chr11:32913929-32914459	GM12878	blood:	n/a	n/a
22	BHLHE40	chr11:32914929-32915449	GM12878	blood:	n/a	chr11:32915058-32915074
23	BHLHE40	chr11:32915128-32915967	K562	blood:	n/a	n/a
24	BRCA1	chr11:32915646-32916155	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr11:32913363-32914293	Hela-S3	cervix:	n/a	chr11:32913451-32913458
26	CBX3	chr11:32915588-32916050	K562	blood:	n/a	n/a
27	CBX3	chr11:32913686-32914284	K562	blood:	n/a	n/a
28	CCNT2	chr11:32915705-32916024	K562	blood:	n/a	n/a
29	CCNT2	chr11:32913495-32915479	K562	blood:	n/a	chr11:32913707-32913716 chr11:32914042-32914051
30	CEBPB	chr11:32915727-32916364	K562	blood:	n/a	chr11:32916185-32916196
31	CEBPB	chr11:32915733-32916320	K562	blood:	n/a	chr11:32916185-32916196
32	CEBPB	chr11:32915640-32916366	Hela-S3	cervix:	n/a	chr11:32916185-32916196
33	CEBPB	chr11:32915785-32916357	IMR90	lung:	n/a	chr11:32916185-32916196
34	CEBPB	chr11:32915813-32916384	A549	lung:	n/a	chr11:32916185-32916196
35	CEBPB	chr11:32914912-32915346	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:32915809-32916372	HepG2	liver:	n/a	chr11:32916185-32916196
37	CEBPB	chr11:32915763-32916467	A549	lung:	n/a	chr11:32916185-32916196
38	CEBPB	chr11:32913360-32914264	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr11:32915902-32916321	H1-hESC	embryonic stem cell:	n/a	chr11:32916185-32916196
40	CEBPD	chr11:32914049-32914590	HepG2	liver:	n/a	n/a
41	CEBPD	chr11:32913804-32914910	K562	blood:	n/a	n/a
42	CEBPD	chr11:32913808-32914414	K562	blood:	n/a	n/a
43	CHD1	chr11:32913850-32914308	GM12878	blood:	n/a	n/a
44	CHD1	chr11:32914829-32916561	H1-hESC	embryonic stem cell:	n/a	chr11:32914978-32914988 chr11:32915013-32915023
45	CHD1	chr11:32916109-32916168	GM12878	blood:	n/a	n/a
46	CHD1	chr11:32914774-32915868	GM12878	blood:	n/a	chr11:32914978-32914988 chr11:32915013-32915023
47	CHD1	chr11:32912681-32914284	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr11:32913695-32914464	HepG2	liver:	n/a	chr11:32914345-32914355
49	CHD2	chr11:32915793-32916073	HepG2	liver:	n/a	n/a
50	CHD2	chr11:32914874-32915321	GM12878	blood:	n/a	chr11:32914978-32914988 chr11:32915013-32915023

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32916120-32916170	PFSK-1	brain:	n/a
2	chr11:32916120-32916170	PFSK-1	brain:	n/a
3	chr11:32916120-32916170	HNPCEpiC	eye:	n/a
4	chr11:32914638-32914688	HEK293	kidney:	embryo
5	chr11:32914648-32914698	BJ	skin:	n/a
6	chr11:32914818-32914868	HCT-116	colon:	n/a
7	chr11:32915903-32915953	SK-N-SH_RA	brain:	n/a
8	chr11:32915823-32915873	AG10803	skin:	n/a
9	chr11:32915131-32915181	Hela-S3	cervix:	n/a
10	chr11:32914618-32914668	HIPEpiC	eye:	n/a
11	chr11:32913990-32914040	SK-N-MC	brain:	n/a
12	chr11:32914611-32914661	HPAEpiC	pulmonary alveolar:	n/a
13	chr11:32915497-32915547	HUVEC	blood vessel:	n/a
14	chr11:32916120-32916170	HepG2	liver:	n/a
15	chr11:32914648-32914698	HIPEpiC	eye:	n/a
16	chr11:32914638-32914688	ovcar-3	ovarian:	n/a
17	chr11:32914638-32914688	AG10803	skin:	n/a
18	chr11:32914618-32914668	NB4	blood:	n/a
19	chr11:32914638-32914688	PANC-1	pancreas:	n/a
20	chr11:32916120-32916170	GM12878	blood:	n/a
21	chr11:32914638-32914688	HCPEpiC	choroid plexus:	n/a
22	chr11:32915823-32915873	SAEC	small airway:	n/a
23	chr11:32915497-32915547	BE2_C	brain:	n/a
24	chr11:32915131-32915181	HRCEpiC	kidney:	n/a
25	chr11:32913990-32914040	HUVEC	blood vessel:	n/a
26	chr11:32914605-32914655	MCF10A-Er-Src	breast:	n/a
27	chr11:32914611-32914661	AG09309	skin:	n/a
28	chr11:32915131-32915181	GM06990	blood:	n/a
29	chr11:32913990-32914040	SKMC	muscle:	n/a
30	chr11:32915823-32915873	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:32913990-32914040	HCPEpiC	choroid plexus:	n/a
32	chr11:32915497-32915547	ECC-1	luminal epithelium:	n/a
33	chr11:32914638-32914688	GM06990	blood:	n/a
34	chr11:32914611-32914661	BE2_C	brain:	n/a
35	chr11:32914618-32914668	BJ	skin:	n/a
36	chr11:32914605-32914655	HUVEC	blood vessel:	n/a
37	chr11:32914618-32914668	ProgFib	skin:	n/a
38	chr11:32914818-32914868	ovcar-3	ovarian:	n/a
39	chr11:32914648-32914698	GM19239	blood:	n/a
40	chr11:32914648-32914698	HRCEpiC	kidney:	n/a
41	chr11:32914618-32914668	SAEC	small airway:	n/a
42	chr11:32913990-32914040	MCF10A-Er-Src	breast:	n/a
43	chr11:32915823-32915873	SK-N-SH_RA	brain:	n/a
44	chr11:32915903-32915953	T-47D	breast:	n/a
45	chr11:32914618-32914668	T-47D	breast:	n/a
46	chr11:32914618-32914668	HRCEpiC	kidney:	n/a
47	chr11:32914618-32914668	K562	blood:	n/a
48	chr11:32914638-32914688	GM12892	blood:	n/a
49	chr11:32914618-32914668	GM12891	blood:	n/a
50	chr11:32915131-32915181	HIPEpiC	eye:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32914059..32914697-chr5:64064672..64065341,2	Hela-S3	cervix:
2	chr11:32912677..32916677-chr11:32946348..32949783,4	K562	blood:
3	chr11:32914076..32914799-chr6:26123502..26124171,2	Hela-S3	cervix:
4	chr11:32912801..32916780-chr11:33060030..33062962,4	MCF-7	breast:
5	chr11:32900766..32903313-chr11:32912451..32914688,2	K562	blood:
6	chr11:32915240..32915992-chr12:53440834..53441564,2	Hela-S3	cervix:
7	chr11:32914066..32915835-chr11:33278115..33280779,2	K562	blood:
8	chr11:32913873..32915883-chr11:32948167..32950423,2	MCF-7	breast:
9	chr11:32914390..32915284-chr20:32580396..32581124,2	Hela-S3	cervix:
10	chr11:32914073..32914891-chr6:27858213..27859098,2	HCT-116	colon:
11	chr11:32455369..32457971-chr11:32914210..32916339,2	K562	blood:
12	chr11:32849868..32852880-chr11:32911360..32916794,6	MCF-7	breast:
13	chr11:32911083..32916400-chr11:33180278..33184105,5	K562	blood:
14	chr11:32915892..32917470-chr11:32980726..32982282,2	K562	blood:
15	chr11:32915549..32916317-chr11:61583965..61584543,2	Hela-S3	cervix:
16	chr1:247095122..247095967-chr11:32913877..32914747,2	Hela-S3	cervix:
17	chr11:32914384..32914884-chr13:25496573..25497412,2	NB4	blood:
18	chr11:32913837..32914707-chr6:31587711..31588295,2	Hela-S3	cervix:
19	chr11:32912949..32915416-chr11:33278689..33280447,2	MCF-7	breast:
20	chr11:32914431..32914932-chr19:45971637..45972583,2	Hela-S3	cervix:
21	chr11:32913861..32915566-chr11:33278350..33280856,3	K562	blood:
22	chr11:32915546..32916189-chr5:98264465..98265204,2	Hela-S3	cervix:
23	chr11:32914014..32915010-chr5:10249637..10250329,2	Hela-S3	cervix:
24	chr11:32850001..32854483-chr11:32912810..32915962,5	MCF-7	breast:
25	chr11:32913171..32916144-chr11:33182605..33184521,3	K562	blood:
26	chr11:32916175..32919465-chr11:32932228..32934625,3	K562	blood:
27	chr11:32912742..32915744-chr11:33035300..33038153,5	K562	blood:
28	chr11:32912008..32915658-chr11:33059663..33062231,5	K562	blood:
29	chr11:32914351..32916676-chr11:33059902..33062238,2	K562	blood:
30	chr11:32914852..32915778-chr22:46409688..46410516,2	Hela-S3	cervix:
31	chr11:32915392..32916319-chr3:40498303..40499288,2	Hela-S3	cervix:
32	chr11:32912444..32914191-chr11:32997049..32998828,2	K562	blood:
33	chr11:32914186..32915173-chr9:34178494..34179034,2	NB4	blood:
34	chr11:32913570..32915679-chr11:32955397..32958065,2	MCF-7	breast:

No data

Variant related genes	Relation type
QSER1	TF binding region
QSER1	CpG island
ENSG00000150756	chromatin interactions
ENSG00000110422	chromatin interactions
ENSG00000135378	chromatin interactions
ENSG00000165006	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000247151	chromatin interactions
ENSG00000125740	chromatin interactions
ENSG00000176102	chromatin interactions
ENSG00000153207	chromatin interactions
ENSG00000060749	chromatin interactions
ENSG00000121690	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000257337	chromatin interactions
ENSG00000248489	chromatin interactions
ENSG00000184937	chromatin interactions
ENSG00000183242	chromatin interactions
ENSG00000153015	chromatin interactions
ENSG00000188846	chromatin interactions
ENSG00000151849	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000176148	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000228265	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78315659	chr11:32913455-32913456	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs527487520	chr11:32913468-32913469	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs566380041	chr11:32913547-32913548	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs561185392	chr11:32913674-32913675	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs138212904	chr11:32913751-32913752	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs549789023	chr11:32913756-32913757	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs570070496	chr11:32913798-32913799	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs200936037	chr11:32913802-32913803	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs116106856	chr11:32913817-32913818	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs565794951	chr11:32913831-32913832	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs552050863	chr11:32913840-32913841	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs190189633	chr11:32913859-32913860	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs554715356	chr11:32913868-32913869	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs568292893	chr11:32913896-32913897	Active TSS Flanking 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
15	rs544216844	chr11:32913897-32913898	Active TSS Flanking 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
16	rs557362481	chr11:32913902-32913903	Active TSS Flanking 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
17	rs576037244	chr11:32913956-32913957	Active TSS Flanking 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
18	rs192964756	chr11:32914001-32914002	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs144666323	chr11:32914024-32914025	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs572139187	chr11:32914052-32914053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs541251851	chr11:32914086-32914087	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs538734621	chr11:32914088-32914089	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs564268235	chr11:32914119-32914120	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs141886676	chr11:32914123-32914124	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs536609723	chr11:32914138-32914139	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs375426037	chr11:32914151-32914152	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs552253189	chr11:32914155-32914156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs112694299	chr11:32914184-32914185	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs369469013	chr11:32914202-32914203	Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs565857004	chr11:32914219-32914220	Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs528590824	chr11:32914229-32914230	Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs548261595	chr11:32914244-32914245	Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs568357054	chr11:32914292-32914293	Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs537245930	chr11:32914314-32914315	Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs557638090	chr11:32914342-32914343	Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs562526200	chr11:32914389-32914390	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs368650535	chr11:32914390-32914391	Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs184051871	chr11:32914409-32914410	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs571017612	chr11:32914459-32914460	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
40	rs538645689	chr11:32914524-32914525	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
41	rs558561783	chr11:32914695-32914696	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
42	rs533283881	chr11:32914706-32914707	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs572051361	chr11:32914733-32914734	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs534746765	chr11:32914789-32914790	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs2786801	chr11:32914791-32914792	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs554698773	chr11:32914802-32914803	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs544970878	chr11:32914804-32914805	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs375741154	chr11:32914833-32914834	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs188741392	chr11:32914968-32914969	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs543210682	chr11:32915008-32915009	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32910200-32913800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:32912200-32916400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:32912600-32917000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr11:32912600-32917000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:32912800-32913600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr11:32912800-32913600	Enhancers	Small Intestine	intestine
7	chr11:32912800-32913600	Flanking Active TSS	K562	blood
8	chr11:32912800-32913800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr11:32912800-32913800	Flanking Active TSS	Fetal Lung	lung
10	chr11:32912800-32913800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr11:32912800-32914000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:32912800-32914200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:32912800-32916200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:32912800-32916600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:32912800-32917200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:32912800-32917200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr11:32913000-32913600	Enhancers	Primary B cells from cord blood	blood
18	chr11:32913000-32913600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:32913000-32913600	Enhancers	Colonic Mucosa	Colon
20	chr11:32913000-32913600	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr11:32913000-32913600	Enhancers	Fetal Thymus	thymus
22	chr11:32913000-32913600	Enhancers	Stomach Mucosa	stomach
23	chr11:32913000-32913600	Flanking Active TSS	A549	lung
24	chr11:32913000-32913600	Flanking Active TSS	Hela-S3	cervix
25	chr11:32913000-32913600	Flanking Active TSS	HMEC	breast
26	chr11:32913000-32913800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:32913000-32913800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:32913000-32913800	Flanking Active TSS	GM12878-XiMat	blood
29	chr11:32913000-32913800	Flanking Active TSS	NHEK	skin
30	chr11:32913000-32914200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:32913000-32916200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:32913000-32916200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:32913000-32916200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:32913000-32916400	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:32913000-32916800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:32913000-32916800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:32913000-32917000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:32913000-32917200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:32913200-32913600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:32913200-32913600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:32913200-32913600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:32913200-32913600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:32913200-32913600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:32913200-32913600	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr11:32913200-32913600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:32913200-32913600	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr11:32913200-32913600	Flanking Active TSS	HepG2	liver
48	chr11:32913200-32913800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:32913200-32914000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr11:32913200-32914000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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