Variant report

Variant	esv3454564
Chromosome Location	chr11:64052001-64054549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:722)
CpG islands
(count:1098)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64052589-64052600	K562	blood:	n/a	n/a
2	ATF1	chr11:64052060-64052579	K562	blood:	n/a	n/a
3	ATF3	chr11:64053001-64053333	K562	blood:	n/a	n/a
4	ATF3	chr11:64052936-64053375	A549	lung:	n/a	n/a
5	BACH1	chr11:64052335-64053372	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:64052442-64052589	K562	blood:	n/a	n/a
7	BACH1	chr11:64053049-64053072	K562	blood:	n/a	n/a
8	BCL3	chr11:64052105-64052918	A549	lung:	n/a	n/a
9	BCL3	chr11:64052066-64053444	A549	lung:	n/a	chr11:64053299-64053308 chr11:64053008-64053021 chr11:64053257-64053270 chr11:64053183-64053196 chr11:64053315-64053324
10	BHLHE40	chr11:64052018-64052275	K562	blood:	n/a	n/a
11	BHLHE40	chr11:64052008-64053373	GM12878	blood:	n/a	chr11:64053178-64053194 chr11:64053003-64053019 chr11:64053289-64053305
12	BHLHE40	chr11:64052600-64052748	K562	blood:	n/a	n/a
13	BHLHE40	chr11:64053013-64053329	K562	blood:	n/a	chr11:64053178-64053194 chr11:64053289-64053305
14	BRCA1	chr11:64052131-64052394	HepG2	liver:	n/a	n/a
15	BRCA1	chr11:64053165-64053376	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr11:64052030-64052889	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr11:64052124-64052658	K562	blood:	n/a	n/a
18	CCNT2	chr11:64051905-64053471	K562	blood:	n/a	chr11:64053307-64053316 chr11:64052717-64052737
19	CEBPB	chr11:64052093-64052242	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr11:64052166-64052200	K562	blood:	n/a	n/a
21	CEBPB	chr11:64052986-64053320	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr11:64052142-64052355	Hela-S3	cervix:	n/a	n/a
23	CEBPD	chr11:64051949-64052488	HepG2	liver:	n/a	n/a
24	CEBPD	chr11:64052714-64053448	HepG2	liver:	n/a	n/a
25	CEBPD	chr11:64052499-64052870	K562	blood:	n/a	n/a
26	CHD1	chr11:64051966-64052749	GM12878	blood:	n/a	n/a
27	CHD2	chr11:64052176-64052300	HepG2	liver:	n/a	n/a
28	CHD2	chr11:64052750-64053309	HepG2	liver:	n/a	chr11:64053197-64053207 chr11:64052773-64052783
29	CHD2	chr11:64052047-64052756	K562	blood:	n/a	n/a
30	CHD2	chr11:64051999-64053381	GM12878	blood:	n/a	chr11:64053197-64053207 chr11:64052773-64052783
31	CHD2	chr11:64053896-64054160	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr11:64052041-64052686	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr11:64051921-64053646	Hela-S3	cervix:	n/a	chr11:64053197-64053207 chr11:64052773-64052783
34	CHD2	chr11:64052995-64053381	K562	blood:	n/a	chr11:64053197-64053207
35	CREB1	chr11:64051739-64053552	HepG2	liver:	n/a	n/a
36	CREB1	chr11:64051978-64052486	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr11:64052534-64053519	A549	lung:	n/a	n/a
38	CREB1	chr11:64051663-64053452	GM12878	blood:	n/a	n/a
39	CREB1	chr11:64051622-64052504	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr11:64051922-64052473	ECC-1	luminal epithelium:	n/a	n/a
41	CREB1	chr11:64051650-64052423	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr11:64051789-64052438	A549	lung:	n/a	n/a
43	CREB1	chr11:64051991-64052390	A549	lung:	n/a	n/a
44	CREB1	chr11:64051752-64052576	HepG2	liver:	n/a	n/a
45	CTCF	chr11:64053980-64054130	HMEC	breast:	n/a	n/a
46	CTCF	chr11:64053960-64054110	NHEK	skin:	n/a	n/a
47	CTCF	chr11:64054039-64054138	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr11:64053960-64054110	GM12875	blood:	n/a	n/a
49	CTCF	chr11:64053088-64053116	GM19239	blood:	n/a	chr11:64053107-64053116
50	CTCF	chr11:64053900-64054050	GM12866	blood:	n/a	n/a

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64054159-64054209	NHDF-neo	bronchial:	n/a
2	chr11:64053360-64053410	HL-60	blood:	n/a
3	chr11:64053342-64053392	SAEC	small airway:	n/a
4	chr11:64052200-64052250	SKMC	muscle:	n/a
5	chr11:64053742-64053792	Hepatocyte	liver:	n/a
6	chr11:64053342-64053392	HRPEpiC	eye:	n/a
7	chr11:64052200-64052250	HEK293	kidney:	embryo
8	chr11:64052221-64052271	HCPEpiC	choroid plexus:	n/a
9	chr11:64053481-64053531	AG04449	skin:	fetal
10	chr11:64052187-64052237	MCF-7	breast:	n/a
11	chr11:64052165-64052215	GM12891	blood:	n/a
12	chr11:64053638-64053688	HEEpiC	esophagus:	n/a
13	chr11:64053360-64053410	HEEpiC	esophagus:	n/a
14	chr11:64052226-64052276	HEK293	kidney:	embryo
15	chr11:64053134-64053184	LNCaP	prostate:	n/a
16	chr11:64052221-64052271	NH-A	brain:	n/a
17	chr11:64053481-64053531	MCF10A-Er-Src	breast:	n/a
18	chr11:64053134-64053184	NB4	blood:	n/a
19	chr11:64053342-64053392	CMK	blood:	n/a
20	chr11:64052221-64052271	HEK293	kidney:	embryo
21	chr11:64052187-64052237	ovcar-3	ovarian:	n/a
22	chr11:64053511-64053561	NB4	blood:	n/a
23	chr11:64053360-64053410	AoSMC	blood vessel:	n/a
24	chr11:64053129-64053179	K562	blood:	n/a
25	chr11:64052260-64052310	LNCaP	prostate:	n/a
26	chr11:64052226-64052276	U87	brain:	n/a
27	chr11:64053342-64053392	IMR90	lung:	fetal
28	chr11:64053638-64053688	SKMC	muscle:	n/a
29	chr11:64053129-64053179	RPTEC	kidney:	n/a
30	chr11:64052260-64052310	CMK	blood:	n/a
31	chr11:64053638-64053688	NH-A	brain:	n/a
32	chr11:64053129-64053179	HCPEpiC	choroid plexus:	n/a
33	chr11:64052165-64052215	ovcar-3	ovarian:	n/a
34	chr11:64054159-64054209	HUVEC	blood vessel:	n/a
35	chr11:64052260-64052310	GM19239	blood:	n/a
36	chr11:64052165-64052215	MCF-7	breast:	n/a
37	chr11:64053342-64053392	HCT-116	colon:	n/a
38	chr11:64052608-64052658	GM19239	blood:	n/a
39	chr11:64053742-64053792	A549	lung:	n/a
40	chr11:64053511-64053561	Caco-2	colon:	n/a
41	chr11:64053481-64053531	GM19239	blood:	n/a
42	chr11:64052608-64052658	GM12891	blood:	n/a
43	chr11:64052547-64052597	NB4	blood:	n/a
44	chr11:64053511-64053561	GM19239	blood:	n/a
45	chr11:64053742-64053792	HMEC	breast:	n/a
46	chr11:64052165-64052215	Hepatocyte	liver:	n/a
47	chr11:64053472-64053522	HRE	kidney:	n/a
48	chr11:64052200-64052250	H1-hESC	embryonic stem cell:	embryo
49	chr11:64052165-64052215	BE2_C	brain:	n/a
50	chr11:64054159-64054209	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:64052659..64056055-chr11:64125689..64127630,3	MCF-7	breast:
2	chr11:64013049..64014994-chr11:64052537..64054255,3	MCF-7	breast:
3	chr11:64052931..64055348-chr11:64095161..64098427,3	MCF-7	breast:
4	chr11:64016812..64021458-chr11:64049548..64056058,8	MCF-7	breast:
5	chr11:64050061..64052819-chr11:64080707..64082589,2	MCF-7	breast:
6	chr11:64052517..64054991-chr11:64119891..64124085,3	K562	blood:
7	chr11:64053599..64055406-chr11:64121641..64123731,2	K562	blood:
8	chr11:64008214..64010501-chr11:64051864..64054015,3	MCF-7	breast:
9	chr11:63994757..64000133-chr11:64050787..64054663,5	MCF-7	breast:
10	chr11:64000315..64002426-chr11:64053899..64055582,2	MCF-7	breast:
11	chr11:64053151..64055063-chr11:64124109..64127002,2	K562	blood:
12	chr11:64052231..64052896-chr6:7389691..7390274,2	Hela-S3	cervix:
13	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
14	chr11:63952254..63954139-chr11:64052656..64054498,2	MCF-7	breast:
15	chr11:64037071..64037978-chr11:64052887..64053521,2	MCF-7	breast:
16	chr11:63933268..63934996-chr11:64053626..64055323,2	MCF-7	breast:
17	chr11:64028329..64041732-chr11:64049023..64058851,39	MCF-7	breast:
18	chr11:64052742..64053246-chr18:48556218..48556768,2	Hela-S3	cervix:
19	chr1:150946695..150947428-chr11:64052228..64052944,2	Hela-S3	cervix:
20	chr11:64051216..64053700-chr11:64085412..64087115,2	K562	blood:
21	chr11:63949228..63955854-chr11:64049902..64053814,7	MCF-7	breast:
22	chr11:64051216..64053733-chr11:64084911..64087115,3	K562	blood:
23	chr11:63974393..63980083-chr11:64051080..64055862,5	MCF-7	breast:
24	chr11:63992108..63994970-chr11:64050201..64053443,5	MCF-7	breast:
25	chr11:64028752..64030892-chr11:64051770..64053907,2	MCF-7	breast:
26	chr11:64050229..64053074-chr11:64081177..64083173,2	MCF-7	breast:
27	chr11:64051486..64055490-chr11:64121214..64124233,3	MCF-7	breast:
28	chr11:64052935..64055141-chr11:64085438..64088024,2	MCF-7	breast:
29	chr11:64032072..64048684-chr11:64048768..64055711,68	MCF-7	breast:
30	chr11:64042595..64046939-chr11:64049156..64053929,8	MCF-7	breast:
31	chr11:64053943..64056232-chr11:64083212..64085123,2	MCF-7	breast:
32	chr11:64017311..64024506-chr11:64050135..64055747,10	MCF-7	breast:
33	chr11:64037441..64038100-chr11:64052228..64053171,3	Hela-S3	cervix:
34	chr11:63994977..63999244-chr11:64052371..64054935,4	MCF-7	breast:
35	chr11:64052097..64054985-chr11:64084500..64086300,2	MCF-7	breast:
36	chr11:64012924..64015359-chr11:64050536..64054535,6	MCF-7	breast:
37	chr11:63932716..63934743-chr11:64051710..64053463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257069	TF binding region
GPR137	TF binding region
BAD	TF binding region
KCNK4	TF binding region
ENSG00000257069	CpG island
GPR137	CpG island
BAD	CpG island
KCNK4	CpG island
ENSG00000236935	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000110011	chromatin interactions
ENSG00000149743	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000141646	chromatin interactions
ENSG00000257086	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000124784	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000149761	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000164304	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000143418	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534613882	chr11:64052040-64052041	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs371971125	chr11:64052047-64052048	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs540148087	chr11:64052076-64052077	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs568391428	chr11:64052087-64052088	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs536241063	chr11:64052109-64052110	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
6	rs556266858	chr11:64052115-64052116	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs576112604	chr11:64052126-64052127	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs545065054	chr11:64052141-64052142	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs558907072	chr11:64052157-64052158	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
10	rs28417526	chr11:64052159-64052160	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
11	rs543991860	chr11:64052168-64052169	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
12	rs375058825	chr11:64052241-64052242	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
13	rs111793546	chr11:64052272-64052273	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
14	rs572555375	chr11:64052273-64052274	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
15	rs541370892	chr11:64052283-64052284	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
16	rs652611	chr11:64052306-64052307	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs5031004	chr11:64052308-64052309	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
18	rs543422577	chr11:64052328-64052329	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
19	rs563409227	chr11:64052341-64052342	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
20	rs559870176	chr11:64052361-64052362	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
21	rs532262628	chr11:64052362-64052363	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
22	rs552223505	chr11:64052380-64052381	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
23	rs2510066	chr11:64052447-64052448	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs528277991	chr11:64052453-64052454	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
25	rs112420981	chr11:64052459-64052460	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
26	rs184388697	chr11:64052520-64052521	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
27	rs536281049	chr11:64052630-64052631	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
28	rs17158944	chr11:64052671-64052672	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs11552895	chr11:64052718-64052719	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs569685332	chr11:64052744-64052745	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs562470069	chr11:64052767-64052768	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs558970542	chr11:64052809-64052810	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs369065379	chr11:64052829-64052830	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs572592798	chr11:64052831-64052832	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs541611240	chr11:64052834-64052835	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs554994049	chr11:64052876-64052877	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs531332446	chr11:64052910-64052911	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
38	rs575172609	chr11:64052957-64052958	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
39	rs372518055	chr11:64052983-64052984	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
40	rs563296743	chr11:64052985-64052986	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs532101798	chr11:64052991-64052992	Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
42	rs7118199	chr11:64053049-64053050	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371134247	chr11:64053067-64053068	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
44	rs887314	chr11:64053157-64053158	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs535779047	chr11:64053169-64053170	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
46	rs567880236	chr11:64053178-64053179	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs536899832	chr11:64053229-64053230	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
48	rs547337876	chr11:64053257-64053258	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs530733480	chr11:64053261-64053262	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs200037124	chr11:64053312-64053313	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64051000-64052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:64051000-64054000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:64051200-64052200	Flanking Active TSS	Fetal Muscle Trunk	muscle
4	chr11:64051200-64052800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:64051200-64053400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:64051200-64053400	Active TSS	GM12878-XiMat	blood
7	chr11:64051200-64053600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr11:64051200-64053600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:64051200-64053600	Active TSS	Fetal Kidney	kidney
10	chr11:64051400-64052200	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:64051400-64052200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr11:64051400-64052200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:64051400-64052200	Flanking Active TSS	Fetal Thymus	thymus
14	chr11:64051400-64052600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:64051400-64052800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr11:64051400-64052800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:64051400-64053600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:64051400-64053600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:64051400-64053600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:64051400-64053600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:64051400-64053800	Active TSS	HSMMtube	muscle
22	chr11:64051400-64054000	Active TSS	NHDF-Ad	bronchial
23	chr11:64051400-64054200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr11:64051600-64052200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr11:64051600-64052200	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr11:64051600-64052200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:64051600-64052800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:64051600-64053600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:64051600-64053600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:64051600-64053600	Active TSS	Right Atrium	heart
31	chr11:64051600-64053600	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr11:64051600-64053600	Active TSS	A549	lung
33	chr11:64051600-64053800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr11:64051600-64053800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:64051600-64053800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:64051600-64053800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:64051600-64053800	Active TSS	Aorta	Aorta
38	chr11:64051600-64053800	Active TSS	Small Intestine	intestine
39	chr11:64051600-64054000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:64051600-64054000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:64051800-64052200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:64051800-64052600	Active TSS	Fetal Heart	heart
43	chr11:64051800-64052800	Bivalent/Poised TSS	HepG2	liver
44	chr11:64051800-64053400	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:64051800-64053600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:64051800-64053600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:64051800-64053600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:64051800-64053600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:64051800-64053600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:64051800-64053600	Active TSS	Brain Angular Gyrus	brain

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