Variant report

Variant	esv3365334
Chromosome Location	chr11:9593876-9597474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:944)
CpG islands
(count:978)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:9596824-9597140	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:9595033-9595208	K562	blood:	n/a	chr11:9595088-9595096
3	ARID3A	chr11:9594278-9594651	HepG2	liver:	n/a	n/a
4	ARID3A	chr11:9594894-9595405	HepG2	liver:	n/a	chr11:9595088-9595096
5	ATF1	chr11:9594578-9595287	K562	blood:	n/a	n/a
6	ATF2	chr11:9594220-9594628	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:9596406-9597475	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:9594648-9595190	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr11:9594934-9595294	GM12878	blood:	n/a	n/a
10	ATF2	chr11:9594846-9595323	GM12878	blood:	n/a	n/a
11	ATF3	chr11:9595041-9595460	K562	blood:	n/a	n/a
12	ATF3	chr11:9594935-9595363	K562	blood:	n/a	n/a
13	ATF3	chr11:9595078-9595469	HepG2	liver:	n/a	n/a
14	BACH1	chr11:9594339-9594796	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr11:9596374-9597175	A549	lung:	n/a	chr11:9596468-9596481
16	BCL3	chr11:9594183-9594829	A549	lung:	n/a	n/a
17	BCL3	chr11:9594145-9595350	A549	lung:	n/a	chr11:9595295-9595308 chr11:9595294-9595303 chr11:9595332-9595345 chr11:9594834-9594847
18	BCLAF1	chr11:9594758-9595730	GM12878	blood:	n/a	chr11:9595432-9595445 chr11:9595295-9595308 chr11:9595294-9595303 chr11:9595332-9595345 chr11:9594834-9594847 chr11:9595345-9595354 chr11:9595343-9595356
19	BCLAF1	chr11:9596741-9597460	GM12878	blood:	n/a	n/a
20	BCLAF1	chr11:9594757-9595642	K562	blood:	n/a	chr11:9595432-9595445 chr11:9595295-9595308 chr11:9595294-9595303 chr11:9595332-9595345 chr11:9594834-9594847 chr11:9595345-9595354 chr11:9595343-9595356
21	BHLHE40	chr11:9594264-9595587	GM12878	blood:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
22	BHLHE40	chr11:9596622-9597045	K562	blood:	n/a	n/a
23	BHLHE40	chr11:9594155-9595523	HepG2	liver:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
24	BHLHE40	chr11:9594254-9595614	K562	blood:	n/a	chr11:9595292-9595308 chr11:9595308-9595324 chr11:9595390-9595406 chr11:9595300-9595316 chr11:9595337-9595353
25	BHLHE40	chr11:9594235-9594866	A549	lung:	n/a	n/a
26	BHLHE40	chr11:9596321-9596648	GM12878	blood:	n/a	n/a
27	BRCA1	chr11:9594870-9595198	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr11:9596310-9596335	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr11:9596629-9597318	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr11:9594437-9595319	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr11:9594775-9594900	GM12878	blood:	n/a	n/a
32	BRCA1	chr11:9594470-9595134	HepG2	liver:	n/a	n/a
33	CBX3	chr11:9594225-9595378	K562	blood:	n/a	n/a
34	CBX3	chr11:9596590-9597180	K562	blood:	n/a	n/a
35	CCNT2	chr11:9594469-9596913	K562	blood:	n/a	n/a
36	CEBPB	chr11:9596812-9597185	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr11:9594352-9594865	HepG2	liver:	n/a	n/a
38	CEBPB	chr11:9597441-9597754	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr11:9597468-9597773	IMR90	lung:	n/a	n/a
40	CEBPB	chr11:9597426-9597692	A549	lung:	n/a	n/a
41	CEBPB	chr11:9596877-9597129	K562	blood:	n/a	n/a
42	CEBPB	chr11:9594584-9595274	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr11:9596665-9597137	K562	blood:	n/a	n/a
44	CEBPB	chr11:9596141-9596395	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr11:9596866-9597136	HepG2	liver:	n/a	n/a
46	CEBPD	chr11:9596425-9597278	K562	blood:	n/a	n/a
47	CEBPD	chr11:9594688-9595164	HepG2	liver:	n/a	n/a
48	CEBPD	chr11:9594362-9595465	HepG2	liver:	n/a	n/a
49	CEBPD	chr11:9596087-9597237	K562	blood:	n/a	n/a
50	CHD1	chr11:9594240-9594659	H1-hESC	embryonic stem cell:	n/a	n/a

(count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:9595206-9595256	MCF10A-Er-Src	breast:	n/a
2	chr11:9596174-9596224	NHDF-neo	bronchial:	n/a
3	chr11:9595206-9595256	MCF10A-Er-Src	breast:	n/a
4	chr11:9596174-9596224	NHDF-neo	bronchial:	n/a
5	chr11:9596283-9596333	GM06990	blood:	n/a
6	chr11:9596475-9596525	HCPEpiC	choroid plexus:	n/a
7	chr11:9596224-9596274	HL-60	blood:	n/a
8	chr11:9596214-9596264	HAEpiC	amniotic membrane:	n/a
9	chr11:9594484-9594534	GM12892	blood:	n/a
10	chr11:9596475-9596525	IMR90	lung:	fetal
11	chr11:9595191-9595241	GM19239	blood:	n/a
12	chr11:9595214-9595264	MCF10A-Er-Src	breast:	n/a
13	chr11:9596283-9596333	U87	brain:	n/a
14	chr11:9595544-9595594	U87	brain:	n/a
15	chr11:9594484-9594534	HEEpiC	esophagus:	n/a
16	chr11:9594484-9594534	SAEC	small airway:	n/a
17	chr11:9595204-9595254	MCF-7	breast:	n/a
18	chr11:9596214-9596264	GM19239	blood:	n/a
19	chr11:9596475-9596525	HCF	heart:	n/a
20	chr11:9595265-9595315	HCF	heart:	n/a
21	chr11:9595204-9595254	AG10803	skin:	n/a
22	chr11:9596283-9596333	GM12891	blood:	n/a
23	chr11:9595216-9595266	HCT-116	colon:	n/a
24	chr11:9595265-9595315	HNPCEpiC	eye:	n/a
25	chr11:9595265-9595315	SAEC	small airway:	n/a
26	chr11:9594436-9594486	PFSK-1	brain:	n/a
27	chr11:9594436-9594486	SK-N-SH_RA	brain:	n/a
28	chr11:9596174-9596224	PFSK-1	brain:	n/a
29	chr11:9596224-9596274	NT2-D1	testis:	n/a
30	chr11:9596283-9596333	AG09319	gingival:	n/a
31	chr11:9594484-9594534	BJ	skin:	n/a
32	chr11:9596283-9596333	SK-N-SH_RA	brain:	n/a
33	chr11:9596161-9596211	HEEpiC	esophagus:	n/a
34	chr11:9595191-9595241	IMR90	lung:	fetal
35	chr11:9594436-9594486	ovcar-3	ovarian:	n/a
36	chr11:9594436-9594486	GM12891	blood:	n/a
37	chr11:9596224-9596274	Hela-S3	cervix:	n/a
38	chr11:9596224-9596274	NB4	blood:	n/a
39	chr11:9595200-9595250	SK-N-SH_RA	brain:	n/a
40	chr11:9595216-9595266	GM12878	blood:	n/a
41	chr11:9596214-9596264	GM12891	blood:	n/a
42	chr11:9594436-9594486	ProgFib	skin:	n/a
43	chr11:9595206-9595256	NHDF-neo	bronchial:	n/a
44	chr11:9595216-9595266	NB4	blood:	n/a
45	chr11:9596174-9596224	RPTEC	kidney:	n/a
46	chr11:9594436-9594486	HL-60	blood:	n/a
47	chr11:9595200-9595250	NB4	blood:	n/a
48	chr11:9596174-9596224	HepG2	liver:	n/a
49	chr11:9596174-9596224	HMEC	breast:	n/a
50	chr11:9596283-9596333	K562	blood:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9594508..9596451-chr11:10325420..10327263,2	MCF-7	breast:
2	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
3	chr11:9112943..9114701-chr11:9593377..9596594,3	MCF-7	breast:
4	chr11:9480226..9484903-chr11:9591788..9598525,12	MCF-7	breast:
5	chr11:9335962..9338074-chr11:9596330..9598082,2	K562	blood:
6	chr1:234744714..234746851-chr11:9594601..9596102,2	MCF-7	breast:
7	chr11:9594918..9595451-chr3:156878182..156878802,2	Hela-S3	cervix:
8	chr11:9479099..9485582-chr11:9593306..9599058,18	K562	blood:
9	chr11:9595265..9597236-chr11:9601549..9603655,2	MCF-7	breast:
10	chr11:9595182..9595691-chr17:79008469..79009229,2	HCT-116	colon:
11	chr11:9594464..9595108-chr22:30591798..30592673,2	Hela-S3	cervix:
12	chr11:9594404..9594909-chr19:56632177..56632899,2	Hela-S3	cervix:
13	chr11:9571322..9573839-chr11:9593135..9594742,2	K562	blood:
14	chr11:9482166..9483015-chr11:9594207..9594915,2	Hela-S3	cervix:
15	chr11:9593146..9594870-chr11:9635191..9636726,2	MCF-7	breast:
16	chr11:9597228..9597948-chr7:915879..916543,2	Hela-S3	cervix:
17	chr11:9594577..9595173-chr3:114865177..114865799,2	Hela-S3	cervix:
18	chr11:9482310..9483015-chr11:9594999..9595996,2	Hela-S3	cervix:
19	chr11:9594432..9594977-chr20:30194249..30195144,2	Hela-S3	cervix:
20	chr11:8702253..8704416-chr11:9593339..9594880,2	MCF-7	breast:
21	chr11:9478618..9485582-chr11:9593299..9599536,13	K562	blood:
22	chr11:9481508..9485106-chr11:9595203..9601095,6	MCF-7	breast:
23	chr11:9594244..9596039-chr11:9777459..9779743,2	MCF-7	breast:
24	chr11:9594272..9594821-chr17:25621066..25621930,2	Hela-S3	cervix:
25	chr11:9596850..9599628-chr11:10329310..10331865,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238387	TF binding region
WEE1	TF binding region
RN7SL56P	TF binding region
ENSG00000238387	CpG island
WEE1	CpG island
RN7SL56P	CpG island
ENSG00000264395	chromatin interactions
ENSG00000226137	chromatin interactions
ENSG00000175356	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000133805	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000166471	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000245522	chromatin interactions
ENSG00000166483	chromatin interactions
ENSG00000166441	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000243964	chromatin interactions
ENSG00000243869	chromatin interactions
ENSG00000239857	chromatin interactions
ENSG00000148926	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000168264	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550660968	chr11:9593911-9593912	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs564197886	chr11:9593973-9593974	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs533374381	chr11:9593979-9593980	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs546644930	chr11:9593985-9593986	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs565990725	chr11:9594029-9594030	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs534596431	chr11:9594037-9594038	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs527679998	chr11:9594049-9594050	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs61876830	chr11:9594137-9594138	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs370985711	chr11:9594138-9594139	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs568255605	chr11:9594183-9594184	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs537195841	chr11:9594184-9594185	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs567729757	chr11:9594191-9594192	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs375501331	chr11:9594211-9594212	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs79577874	chr11:9594226-9594227	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs374687612	chr11:9594227-9594228	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs572185791	chr11:9594228-9594229	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs3763871	chr11:9594235-9594236	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs201769158	chr11:9594238-9594239	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs199550067	chr11:9594239-9594240	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs76915514	chr11:9594240-9594241	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs200464015	chr11:9594241-9594242	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs200301880	chr11:9594242-9594243	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs552673909	chr11:9594286-9594287	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs549538741	chr11:9594329-9594330	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs542108619	chr11:9594334-9594335	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs555590242	chr11:9594357-9594358	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs575439125	chr11:9594359-9594360	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs544360695	chr11:9594402-9594403	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs564621853	chr11:9594436-9594437	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs78342940	chr11:9594437-9594438	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs143328332	chr11:9594471-9594472	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs7927591	chr11:9594551-9594552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560274992	chr11:9594641-9594642	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs528440663	chr11:9594657-9594658	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs548506263	chr11:9594687-9594688	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs6486433	chr11:9594690-9594691	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs530740199	chr11:9594708-9594709	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs550766490	chr11:9594733-9594734	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs572415353	chr11:9594748-9594749	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs3763870	chr11:9594761-9594762	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572297599	chr11:9594767-9594768	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs370168983	chr11:9594768-9594769	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs552973626	chr11:9594806-9594807	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs117983754	chr11:9594813-9594814	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs3763869	chr11:9594827-9594828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs555653563	chr11:9594885-9594886	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
47	rs3763868	chr11:9594888-9594889	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs148329686	chr11:9594908-9594909	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
49	rs375465802	chr11:9594937-9594938	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
50	rs113226349	chr11:9594949-9594950	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

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
2	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
3	chr11:9585200-9594400	Weak transcription	Esophagus	oesophagus
4	chr11:9585200-9594400	Weak transcription	Lung	lung
5	chr11:9586400-9594200	Enhancers	Fetal Intestine Small	intestine
6	chr11:9586600-9594000	Enhancers	Placenta	Placenta
7	chr11:9586600-9594200	Enhancers	Fetal Intestine Large	intestine
8	chr11:9588000-9594400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:9588000-9594400	Weak transcription	Gastric	stomach
10	chr11:9588600-9594000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:9589600-9594200	Enhancers	Primary B cells from cord blood	blood
12	chr11:9589800-9594200	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:9590000-9594200	Weak transcription	Fetal Brain Male	brain
14	chr11:9590000-9594200	Weak transcription	Ovary	ovary
15	chr11:9590600-9594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:9590600-9594200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:9591000-9594000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9591000-9594000	Weak transcription	Fetal Brain Female	brain
19	chr11:9591000-9594000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:9591000-9594200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:9591000-9594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:9591200-9594000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:9591200-9594000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:9591200-9594000	Weak transcription	Adipose Nuclei	Adipose
25	chr11:9591200-9594200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:9591200-9594200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:9591200-9594400	Weak transcription	Pancreas	Pancrea
28	chr11:9591400-9594200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:9591400-9594200	Weak transcription	Colonic Mucosa	Colon
30	chr11:9591400-9594200	Weak transcription	Right Ventricle	heart
31	chr11:9591600-9594000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:9591600-9594200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:9591600-9594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:9591600-9594200	Weak transcription	Primary T cells from cord blood	blood
35	chr11:9591600-9594200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:9591600-9594200	Weak transcription	Aorta	Aorta
37	chr11:9591600-9594200	Weak transcription	Left Ventricle	heart
38	chr11:9591600-9594400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:9591600-9594600	Weak transcription	Small Intestine	intestine
40	chr11:9591600-9596200	Weak transcription	Fetal Heart	heart
41	chr11:9591800-9594000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:9591800-9594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:9591800-9594000	Weak transcription	Hela-S3	cervix
44	chr11:9591800-9594200	Weak transcription	Right Atrium	heart
45	chr11:9592000-9594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:9592200-9594200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:9592200-9594400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:9592400-9594200	Weak transcription	Liver	Liver
49	chr11:9592600-9594200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:9592800-9594200	Enhancers	Fetal Stomach	stomach

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