Variant report

Variant	esv992553
Chromosome Location	chr11:57408294-57419351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1259)
CpG islands
(count:916)
Chromatin interactive
region (count:37)
LncRNA
region (count:13)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:57415692-57416035	K562	blood:	n/a	n/a
2	ARID3A	chr11:57412406-57412485	HepG2	liver:	n/a	n/a
3	ATF1	chr11:57417312-57417584	K562	blood:	n/a	n/a
4	ATF1	chr11:57415719-57416197	K562	blood:	n/a	n/a
5	ATF2	chr11:57413960-57416168	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:57412150-57413233	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:57418946-57419669	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:57414756-57415399	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr11:57408370-57409591	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr11:57412065-57412666	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr11:57415861-57417283	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr11:57417296-57418126	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr11:57408778-57409269	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr11:57413560-57413948	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr11:57416220-57417248	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr11:57417297-57418086	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr11:57418176-57418664	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr11:57417290-57417581	K562	blood:	n/a	n/a
19	BACH1	chr11:57411577-57411692	K562	blood:	n/a	n/a
20	BCL3	chr11:57414053-57414671	A549	lung:	n/a	n/a
21	BCL3	chr11:57415639-57417177	A549	lung:	n/a	chr11:57416249-57416262 chr11:57417016-57417025
22	BCL3	chr11:57414037-57418152	A549	lung:	n/a	chr11:57415102-57415111 chr11:57416249-57416262 chr11:57417016-57417025
23	BCL3	chr11:57412844-57413298	A549	lung:	n/a	n/a
24	BCL3	chr11:57417230-57417745	A549	lung:	n/a	n/a
25	BCL3	chr11:57414713-57415588	A549	lung:	n/a	chr11:57415102-57415111
26	BCLAF1	chr11:57413178-57413617	K562	blood:	n/a	n/a
27	BHLHE40	chr11:57415364-57416143	K562	blood:	n/a	n/a
28	BHLHE40	chr11:57413841-57413961	GM12878	blood:	n/a	n/a
29	BHLHE40	chr11:57416553-57416992	GM12878	blood:	n/a	n/a
30	BHLHE40	chr11:57415713-57415913	GM12878	blood:	n/a	n/a
31	BHLHE40	chr11:57409045-57409201	K562	blood:	n/a	n/a
32	BHLHE40	chr11:57416593-57416848	K562	blood:	n/a	n/a
33	BHLHE40	chr11:57415280-57415481	GM12878	blood:	n/a	n/a
34	BRCA1	chr11:57412743-57413173	H1-hESC	embryonic stem cell:	n/a	n/a
35	CBX3	chr11:57415522-57416232	K562	blood:	n/a	n/a
36	CCNT2	chr11:57415624-57416140	K562	blood:	n/a	n/a
37	CEBPB	chr11:57415633-57415996	K562	blood:	n/a	n/a
38	CEBPB	chr11:57415596-57416064	K562	blood:	n/a	n/a
39	CEBPB	chr11:57415675-57415930	IMR90	lung:	n/a	n/a
40	CEBPB	chr11:57409841-57410073	IMR90	lung:	n/a	n/a
41	CEBPB	chr11:57409843-57410020	K562	blood:	n/a	n/a
42	CEBPD	chr11:57415567-57416208	K562	blood:	n/a	n/a
43	CEBPD	chr11:57415527-57416206	K562	blood:	n/a	n/a
44	CHD1	chr11:57416559-57417007	GM12878	blood:	n/a	n/a
45	CHD1	chr11:57411417-57411610	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr11:57416311-57417197	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr11:57408650-57409176	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr11:57412252-57412709	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr11:57417313-57417603	GM12878	blood:	n/a	n/a
50	CHD2	chr11:57416057-57416165	GM12878	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57416254-57416304	HRCEpiC	kidney:	n/a
2	chr11:57416254-57416304	HRCEpiC	kidney:	n/a
3	chr11:57408660-57408710	NB4	blood:	n/a
4	chr11:57416254-57416304	Hepatocyte	liver:	n/a
5	chr11:57408660-57408710	HMEC	breast:	n/a
6	chr11:57408751-57408801	SK-N-SH	brain:	n/a
7	chr11:57408514-57408564	BJ	skin:	n/a
8	chr11:57416254-57416304	HCM	heart:	n/a
9	chr11:57417949-57417999	HNPCEpiC	eye:	n/a
10	chr11:57414457-57414507	AG04450	lung:	fetal
11	chr11:57408660-57408710	HepG2	liver:	n/a
12	chr11:57408660-57408710	U87	brain:	n/a
13	chr11:57418566-57418616	IMR90	lung:	fetal
14	chr11:57417368-57417418	HEK293	kidney:	embryo
15	chr11:57408751-57408801	HCT-116	colon:	n/a
16	chr11:57414401-57414451	AG09309	skin:	n/a
17	chr11:57417368-57417418	GM19239	blood:	n/a
18	chr11:57414557-57414607	HCM	heart:	n/a
19	chr11:57408660-57408710	PFSK-1	brain:	n/a
20	chr11:57417368-57417418	NHDF-neo	bronchial:	n/a
21	chr11:57414908-57414958	SKMC	muscle:	n/a
22	chr11:57412323-57412373	AoSMC	blood vessel:	n/a
23	chr11:57412323-57412373	U87	brain:	n/a
24	chr11:57414401-57414451	AG09319	gingival:	n/a
25	chr11:57417949-57417999	IMR90	lung:	fetal
26	chr11:57416254-57416304	AG09309	skin:	n/a
27	chr11:57417974-57418024	MCF-7	breast:	n/a
28	chr11:57416254-57416304	SAEC	small airway:	n/a
29	chr11:57417974-57418024	NH-A	brain:	n/a
30	chr11:57414557-57414607	Jurkat	blood:	n/a
31	chr11:57408514-57408564	HCM	heart:	n/a
32	chr11:57414908-57414958	HEK293	kidney:	embryo
33	chr11:57412323-57412373	NHDF-neo	bronchial:	n/a
34	chr11:57414401-57414451	AG04449	skin:	fetal
35	chr11:57408751-57408801	ProgFib	skin:	n/a
36	chr11:57414557-57414607	NB4	blood:	n/a
37	chr11:57417974-57418024	HEEpiC	esophagus:	n/a
38	chr11:57412660-57412710	HRCEpiC	kidney:	n/a
39	chr11:57412323-57412373	HCM	heart:	n/a
40	chr11:57417949-57417999	PANC-1	pancreas:	n/a
41	chr11:57412323-57412373	T-47D	breast:	n/a
42	chr11:57417368-57417418	ProgFib	skin:	n/a
43	chr11:57414457-57414507	SK-N-MC	brain:	n/a
44	chr11:57414626-57414676	SK-N-SH_RA	brain:	n/a
45	chr11:57412660-57412710	HepG2	liver:	n/a
46	chr11:57416254-57416304	HCPEpiC	choroid plexus:	n/a
47	chr11:57412660-57412710	PANC-1	pancreas:	n/a
48	chr11:57417974-57418024	U87	brain:	n/a
49	chr11:57408751-57408801	SKMC	muscle:	n/a
50	chr11:57416254-57416304	PANC-1	pancreas:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57407680..57409367-chr11:57422916..57424875,2	MCF-7	breast:
2	chr11:57335286..57336293-chr11:57411795..57412862,4	K562	blood:
3	chr11:57224546..57225432-chr11:57408726..57409938,3	K562	blood:
4	chr11:57409445..57411077-chr11:57414128..57416873,2	K562	blood:
5	chr11:57405566..57408530-chr11:57408605..57410550,2	MCF-7	breast:
6	chr11:57415751..57417478-chr11:57419075..57422993,4	K562	blood:
7	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
8	chr11:57411538..57415148-chr11:57422707..57424942,3	K562	blood:
9	chr11:57325867..57327995-chr11:57414658..57417368,2	K562	blood:
10	chr11:57411538..57413091-chr11:57423300..57425446,2	K562	blood:
11	chr11:57191864..57193854-chr11:57413705..57415355,2	K562	blood:
12	chr11:57114064..57115685-chr11:57415196..57416779,2	K562	blood:
13	chr11:57335355..57336298-chr11:57408531..57409635,7	K562	blood:
14	chr11:57334311..57335222-chr11:57412048..57412889,2	K562	blood:
15	chr11:57113255..57113767-chr11:57411943..57412895,2	K562	blood:
16	chr11:57335649..57336286-chr11:57413903..57414633,2	MCF-7	breast:
17	chr11:57400118..57403539-chr11:57406028..57408341,3	K562	blood:
18	chr11:57293312..57295959-chr11:57408961..57411007,2	MCF-7	breast:
19	chr11:57334278..57336865-chr11:57411196..57413730,2	K562	blood:
20	chr11:57405566..57408530-chr11:57408605..57410550,2	MCF-7	breast:
21	chr11:57112773..57113316-chr11:57408689..57409193,2	K562	blood:
22	chr11:57260580..57261537-chr11:57411949..57412991,4	K562	blood:
23	chr11:57333866..57335515-chr11:57412954..57415220,2	MCF-7	breast:
24	chr11:57224684..57228396-chr11:57412206..57415806,3	K562	blood:
25	chr11:57335602..57336481-chr11:57412372..57413008,2	MCF-7	breast:
26	chr11:57335629..57336368-chr11:57411973..57412866,2	MCF-7	breast:
27	chr11:57419081..57422303-chr11:57422733..57426519,4	K562	blood:
28	chr11:57415844..57417828-chr11:57434244..57436938,3	K562	blood:
29	chr11:57225611..57226757-chr11:57411990..57412532,3	K562	blood:
30	chr11:57090818..57092799-chr11:57412306..57413962,2	K562	blood:
31	chr11:57258888..57259762-chr11:57412016..57412949,3	MCF-7	breast:
32	chr11:57224560..57225436-chr11:57411980..57412884,2	K562	blood:
33	chr11:57334539..57338384-chr11:57406664..57411574,5	MCF-7	breast:
34	chr11:57191864..57194047-chr11:57412922..57415205,2	K562	blood:
35	chr11:57416509..57419295-chr11:57509568..57512318,2	K562	blood:
36	chr11:57417074..57418991-chr11:57424889..57426673,2	K562	blood:
37	chr11:57335324..57336323-chr11:57408291..57409695,14	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YPEL4-1	chr11:57417158-57417409	NONHSAT021431
2	lnc-ZDHHC5-1	chr11:57417771-57420263	ENSG00000254602.1
3	lnc-YPEL4-1	chr11:57414946-57415159	NONHSAT021429
4	lnc-ZDHHC5-1	chr11:57414359-57414493	ENSG00000254602.1
5	lnc-ZDHHC5-1	chr11:57417771-57418182	ENSG00000254602.1
6	lnc-YPEL4-1	chr11:57417158-57417411	NONHSAT021429
7	lnc-ZDHHC5-1	chr11:57417771-57418286	ENSG00000254602.1
8	lnc-YPEL4-1	chr11:57414670-57414764	NONHSAT021429
9	lnc-ZDHHC5-1	chr11:57415819-57415920	ENSG00000254602.1
10	lnc-ZDHHC5-1	chr11:57416692-57416732	ENSG00000254602.1
11	lnc-ZDHHC5-1	chr11:57417771-57418248	ENSG00000254602.1
12	lnc-YPEL4-1	chr11:57415933-57416256	NONHSAT021431
13	lnc-ZDHHC5-1	chr11:57417771-57418205	ENSG00000254602.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-130a-5p	chr11:57408691-57408712	MIMAT0004593
hsa-miR-130a-3p	chr11:57408725-57408746	MIMAT0000425

No data

Variant related genes	Relation type
YPEL4	TF binding region
CLP1	TF binding region
MIR130A	TF binding region
ENSG00000254602	TF binding region
YPEL4	CpG island
CLP1	CpG island
MIR130A	CpG island
ENSG00000254602	CpG island
ENSG00000134802	chromatin interactions
ENSG00000208009	chromatin interactions
ENSG00000186907	chromatin interactions
ENSG00000172409	chromatin interactions
ENSG00000254732	chromatin interactions
ENSG00000166793	chromatin interactions
ENSG00000109991	chromatin interactions
ENSG00000149115	chromatin interactions
ENSG00000156587	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000254602	chromatin interactions
RAB5A	Mature miRNA region
SMAD4	Mature miRNA region
HOXA10	Mature miRNA region
ESR1	Mature miRNA region
ATG2B	Mature miRNA region
HOXA5	Mature miRNA region
ATXN1	Mature miRNA region
PPARG	Mature miRNA region
ACVR1	Mature miRNA region
APP	Mature miRNA region
MAFB	Mature miRNA region
MET	Mature miRNA region
CSF1	Mature miRNA region
BMPR2	Mature miRNA region
CTSA	Mature miRNA region
TAC1	Mature miRNA region
RUNX3	Mature miRNA region
KLF4	Mature miRNA region
DNM2	Mature miRNA region
MEOX2	Mature miRNA region
STK38L	Mature miRNA region
SMAD5	Mature miRNA region
LDLR	Mature miRNA region
IFITM1	Mature miRNA region
DICER1	Mature miRNA region
ZFPM2	Mature miRNA region

Extended variants
information (count: 404 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545331623	chr11:57408368-57408369	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs731384	chr11:57408382-57408383	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs184708825	chr11:57408438-57408439	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs573204807	chr11:57408490-57408491	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs370648221	chr11:57408515-57408516	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs540601149	chr11:57408524-57408525	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs561898579	chr11:57408532-57408533	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs529409300	chr11:57408533-57408534	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs544251791	chr11:57408559-57408560	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531796949	chr11:57408611-57408612	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs374509347	chr11:57408628-57408629	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs533337368	chr11:57408638-57408639	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs367792545	chr11:57408651-57408652	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs551702071	chr11:57408768-57408769	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs34500536	chr11:57408777-57408778	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs3974449	chr11:57408779-57408780	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs370278806	chr11:57408797-57408798	Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs567129361	chr11:57408833-57408834	Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs542344252	chr11:57408850-57408851	Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs527321278	chr11:57408859-57408860	Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs548981333	chr11:57408886-57408887	Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs567125951	chr11:57408951-57408952	Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs537945510	chr11:57408980-57408981	Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs148524900	chr11:57409006-57409007	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs117710961	chr11:57409080-57409081	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538833816	chr11:57409135-57409136	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs145565471	chr11:57409169-57409170	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs572318608	chr11:57409210-57409211	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368040206	chr11:57409271-57409272	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs147707339	chr11:57409275-57409276	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs555734947	chr11:57409319-57409320	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs541873898	chr11:57409380-57409381	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141068058	chr11:57409384-57409385	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556554586	chr11:57409389-57409390	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs544337954	chr11:57409472-57409473	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs1783827	chr11:57409538-57409539	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs533373822	chr11:57409562-57409563	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs527699448	chr11:57409575-57409576	Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs3016264	chr11:57409628-57409629	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560448337	chr11:57409659-57409660	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs144918143	chr11:57409660-57409661	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs371027706	chr11:57409672-57409673	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs549367790	chr11:57409680-57409681	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs567266168	chr11:57409729-57409730	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs531323169	chr11:57409749-57409750	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs549949465	chr11:57409783-57409784	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs1647395	chr11:57409795-57409796	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538872005	chr11:57409819-57409820	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538350306	chr11:57409867-57409868	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs140684317	chr11:57409874-57409875	Genic enhancers Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Glioma	20126413	CNVD

Chromatin state (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57403000-57412200	Weak transcription	Hela-S3	cervix
2	chr11:57405000-57408800	Active TSS	Fetal Kidney	kidney
3	chr11:57406200-57408400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:57406400-57409000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:57406600-57409000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:57406600-57409000	Enhancers	K562	blood
7	chr11:57406800-57408400	Flanking Active TSS	HepG2	liver
8	chr11:57406800-57408600	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr11:57406800-57408600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:57406800-57408800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:57406800-57408800	Flanking Active TSS	Fetal Brain Female	brain
12	chr11:57406800-57409600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:57407000-57408800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr11:57407000-57408800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:57407000-57408800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:57407000-57409200	Enhancers	Liver	Liver
17	chr11:57407200-57408400	Flanking Active TSS	HSMM	muscle
18	chr11:57407200-57408800	Enhancers	Left Ventricle	heart
19	chr11:57407200-57408800	Genic enhancers	Right Atrium	heart
20	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr11:57407200-57409400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
23	chr11:57407200-57409400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
24	chr11:57407200-57412200	Weak transcription	Ovary	ovary
25	chr11:57407400-57408400	Flanking Active TSS	Fetal Brain Male	brain
26	chr11:57407400-57408400	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:57407400-57408600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:57407400-57408600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:57407400-57408600	Flanking Active TSS	NHLF	lung
30	chr11:57407400-57408800	Enhancers	Adipose Nuclei	Adipose
31	chr11:57407400-57408800	Enhancers	Brain Hippocampus Middle	brain
32	chr11:57407400-57408800	Enhancers	Placenta	Placenta
33	chr11:57407400-57409000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:57407400-57412600	Weak transcription	GM12878-XiMat	blood
35	chr11:57407600-57408800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr11:57407600-57408800	Enhancers	Thymus	Thymus
37	chr11:57407600-57409000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:57407600-57409000	Enhancers	Brain Anterior Caudate	brain
39	chr11:57407600-57409000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:57407600-57409200	Enhancers	Primary T cells from cord blood	blood
41	chr11:57407600-57409200	Weak transcription	Colonic Mucosa	Colon
42	chr11:57407600-57409200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:57407600-57412200	Weak transcription	Spleen	Spleen
46	chr11:57407600-57413000	Weak transcription	Right Ventricle	heart
47	chr11:57407600-57413200	Weak transcription	Esophagus	oesophagus
48	chr11:57407800-57408400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:57407800-57408800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:57407800-57408800	Enhancers	Stomach Smooth Muscle	stomach

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