Variant report

Variant	esv3502182
Chromosome Location	chr11:58668199-58731237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:58693760-58694429	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:58713222-58713481	HepG2	liver:	n/a	n/a
3	ATF1	chr11:58691061-58691064	K562	blood:	n/a	n/a
4	ATF2	chr11:58694851-58695251	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:58690792-58691378	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:58672951-58673767	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr11:58673515-58673655	K562	blood:	n/a	n/a
8	BHLHE40	chr11:58668343-58668597	K562	blood:	n/a	n/a
9	BHLHE40	chr11:58668390-58668584	HepG2	liver:	n/a	n/a
10	BHLHE40	chr11:58693810-58694128	HepG2	liver:	n/a	n/a
11	BRCA1	chr11:58673350-58673665	H1-hESC	embryonic stem cell:	n/a	n/a
12	CBX3	chr11:58684635-58685102	HCT-116	colon:	n/a	n/a
13	CBX3	chr11:58684666-58684899	K562	blood:	n/a	n/a
14	CBX3	chr11:58684602-58685036	HCT-116	colon:	n/a	n/a
15	CEBPB	chr11:58693768-58694393	HepG2	liver:	n/a	chr11:58694316-58694329
16	CEBPB	chr11:58719331-58719581	A549	lung:	n/a	chr11:58719485-58719496 chr11:58719485-58719498 chr11:58719487-58719498 chr11:58719485-58719498
17	CEBPB	chr11:58719356-58719620	HepG2	liver:	n/a	chr11:58719485-58719496 chr11:58719485-58719498 chr11:58719487-58719498 chr11:58719485-58719498
18	CEBPB	chr11:58713178-58713528	HepG2	liver:	n/a	chr11:58713351-58713364
19	CEBPB	chr11:58719387-58719568	H1-hESC	embryonic stem cell:	n/a	chr11:58719485-58719496 chr11:58719485-58719498 chr11:58719487-58719498 chr11:58719485-58719498
20	CEBPB	chr11:58713691-58713878	IMR90	lung:	n/a	n/a
21	CEBPB	chr11:58719316-58719632	IMR90	lung:	n/a	chr11:58719485-58719496 chr11:58719485-58719498 chr11:58719487-58719498 chr11:58719485-58719498
22	CEBPB	chr11:58713294-58713398	HepG2	liver:	n/a	chr11:58713351-58713364
23	CEBPB	chr11:58693679-58694509	IMR90	lung:	n/a	chr11:58694316-58694329
24	CEBPB	chr11:58695605-58695843	HepG2	liver:	n/a	chr11:58695719-58695730
25	CEBPB	chr11:58719355-58719662	K562	blood:	n/a	chr11:58719485-58719496 chr11:58719485-58719498 chr11:58719487-58719498 chr11:58719485-58719498
26	CHD1	chr11:58672403-58673216	IMR90	lung:	n/a	n/a
27	CHD1	chr11:58672850-58673135	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr11:58730953-58731524	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr11:58694884-58695809	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr11:58668323-58668505	K562	blood:	n/a	n/a
31	CHD2	chr11:58668301-58668501	GM12878	blood:	n/a	n/a
32	CHD2	chr11:58668027-58668642	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr11:58672662-58673757	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr11:58668271-58668693	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr11:58725455-58725792	GM12878	blood:	n/a	n/a
36	CREB1	chr11:58668219-58668775	H1-hESC	embryonic stem cell:	n/a	n/a
37	CREB1	chr11:58725448-58725809	GM12878	blood:	n/a	n/a
38	CTCF	chr11:58668380-58668530	HL-60	blood:	n/a	chr11:58668444-58668457 chr11:58668442-58668460 chr11:58668437-58668458
39	CTCF	chr11:58690680-58690830	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr11:58726140-58726290	HepG2	liver:	n/a	chr11:58726167-58726185 chr11:58726168-58726184 chr11:58726169-58726190 chr11:58726170-58726183 chr11:58726170-58726179
41	CTCF	chr11:58668239-58668678	H1-hESC	embryonic stem cell:	n/a	chr11:58668444-58668457 chr11:58668442-58668460 chr11:58668437-58668458
42	CTCF	chr11:58726040-58726190	HA-sp	spinal cord:	n/a	chr11:58726167-58726185 chr11:58726168-58726184 chr11:58726169-58726190 chr11:58726170-58726183 chr11:58726170-58726179
43	CTCF	chr11:58690760-58690910	HPF	lung:	n/a	n/a
44	CTCF	chr11:58726140-58726290	RPTEC	kidney:	n/a	chr11:58726167-58726185 chr11:58726168-58726184 chr11:58726169-58726190 chr11:58726170-58726183 chr11:58726170-58726179
45	CTCF	chr11:58690760-58690910	HL-60	blood:	n/a	n/a
46	CTCF	chr11:58726120-58726270	GM12865	blood:	n/a	chr11:58726167-58726185 chr11:58726168-58726184 chr11:58726169-58726190 chr11:58726170-58726183 chr11:58726170-58726179
47	CTCF	chr11:58673500-58673650	AG10803	skin:	n/a	n/a
48	CTCF	chr11:58690736-58690926	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr11:58668400-58668550	HPF	lung:	n/a	chr11:58668444-58668457 chr11:58668442-58668460 chr11:58668437-58668458
50	CTCF	chr11:58726080-58726230	AG04450	lung:	n/a	chr11:58726167-58726185 chr11:58726168-58726184 chr11:58726169-58726190 chr11:58726170-58726183 chr11:58726170-58726179

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58673087-58673137	HRCEpiC	kidney:	n/a
2	chr11:58672702-58672752	GM19239	blood:	n/a
3	chr11:58694219-58694269	HRE	kidney:	n/a
4	chr11:58673087-58673137	HRCEpiC	kidney:	n/a
5	chr11:58672702-58672752	GM19239	blood:	n/a
6	chr11:58694219-58694269	HRE	kidney:	n/a
7	chr11:58673615-58673665	SKMC	muscle:	n/a
8	chr11:58673087-58673137	A549	lung:	n/a
9	chr11:58672768-58672818	GM06990	blood:	n/a
10	chr11:58673577-58673627	AG10803	skin:	n/a
11	chr11:58724252-58724302	NT2-D1	testis:	n/a
12	chr11:58672768-58672818	SK-N-MC	brain:	n/a
13	chr11:58673615-58673665	AG04450	lung:	fetal
14	chr11:58696069-58696119	CMK	blood:	n/a
15	chr11:58695093-58695143	AG09309	skin:	n/a
16	chr11:58675749-58675799	AG04449	skin:	fetal
17	chr11:58672768-58672818	HRCEpiC	kidney:	n/a
18	chr11:58694950-58695000	HCM	heart:	n/a
19	chr11:58668977-58669027	IMR90	lung:	fetal
20	chr11:58673577-58673627	SKMC	muscle:	n/a
21	chr11:58673167-58673217	AG10803	skin:	n/a
22	chr11:58673577-58673627	ovcar-3	ovarian:	n/a
23	chr11:58694219-58694269	HCM	heart:	n/a
24	chr11:58673577-58673627	CMK	blood:	n/a
25	chr11:58668634-58668684	U87	brain:	n/a
26	chr11:58709394-58709444	NHBE	bronchial:	n/a
27	chr11:58724252-58724302	Jurkat	blood:	n/a
28	chr11:58673087-58673137	PANC-1	pancreas:	n/a
29	chr11:58668977-58669027	Hepatocyte	liver:	n/a
30	chr11:58668977-58669027	BJ	skin:	n/a
31	chr11:58673167-58673217	HEK293	kidney:	embryo
32	chr11:58673087-58673137	T-47D	breast:	n/a
33	chr11:58731104-58731154	ovcar-3	ovarian:	n/a
34	chr11:58668345-58668395	ovcar-3	ovarian:	n/a
35	chr11:58694950-58695000	RPTEC	kidney:	n/a
36	chr11:58730897-58730947	HL-60	blood:	n/a
37	chr11:58709394-58709444	Jurkat	blood:	n/a
38	chr11:58668634-58668684	HCM	heart:	n/a
39	chr11:58711078-58711128	HAEpiC	amniotic membrane:	n/a
40	chr11:58675749-58675799	AoSMC	blood vessel:	n/a
41	chr11:58668488-58668538	NHDF-neo	bronchial:	n/a
42	chr11:58672702-58672752	GM12878	blood:	n/a
43	chr11:58668634-58668684	GM12892	blood:	n/a
44	chr11:58673087-58673137	HCM	heart:	n/a
45	chr11:58668977-58669027	HCM	heart:	n/a
46	chr11:58672768-58672818	HepG2	liver:	n/a
47	chr11:58668488-58668538	HEK293	kidney:	embryo
48	chr11:58673477-58673527	Hela-S3	cervix:	n/a
49	chr11:58668634-58668684	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:58731104-58731154	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:58421165..58421796-chr11:58687413..58688096,2	MCF-7	breast:
2	chr11:58678524..58679504-chr6:58776958..58777672,3	MCF-7	breast:
3	chr11:58671775..58674615-chr11:58675003..58676520,2	K562	blood:
4	chr11:58721468..58724070-chr11:58726713..58729457,3	K562	blood:
5	chr11:58721468..58724070-chr11:58726713..58729457,3	K562	blood:
6	chr11:58678524..58679504-chr6:58777166..58777745,2	MCF-7	breast:
7	chr11:58668032..58668917-chr11:58825619..58826508,3	K562	blood:
8	chr11:58726086..58726653-chr11:58902781..58903961,3	K562	blood:
9	chr11:58729566..58731391-chr11:58732930..58735906,2	K562	blood:
10	chr11:58677524..58679024-chr6:58777164..58778728,2	K562	blood:
11	chr11:58661995..58664743-chr11:58668611..58670936,2	K562	blood:
12	chr11:58669175..58672165-chr11:58677460..58679347,2	K562	blood:
13	chr11:58667985..58668808-chr11:58825960..58826578,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLYATL1-2	chr11:58710760-58710795	NONHSAT021491
2	lnc-GLYATL2-1	chr11:58684488-58684757	ENSG00000255523.1
3	lnc-GLYATL1-3	chr11:58672343-58672709	NONHSAT021486
4	lnc-GLYATL2-2	chr11:58701116-58703171	NR_033853
5	lnc-GLYATL1-2	chr11:58714519-58714948	NONHSAT021491
6	lnc-GLYATL2-2	chr11:58701116-58703171	ENSG00000255240.1
7	lnc-GLYATL1-2	chr11:58711016-58711139	NONHSAT021491
8	lnc-GLYATL2-2	chr11:58725690-58726293	ENSG00000255240.1
9	lnc-GLYATL1-2	chr11:58714519-58714734	NONHSAT021492
10	lnc-GLYATL1-2	chr11:58710789-58711139	NONHSAT021492
11	lnc-GLYATL2-1	chr11:58695790-58696162	ENSG00000255523.1

Variant related genes	Relation type
ENSG00000224130	TF binding region
GLYATL1	TF binding region
GLYATL2	TF binding region
ENSG00000255523	TF binding region
ENSG00000224130	CpG island
GLYATL1	CpG island
GLYATL2	CpG island
ENSG00000255523	CpG island
ENSG00000254877	chromatin interactions
ENSG00000255240	chromatin interactions
ENSG00000166840	chromatin interactions
ENSG00000156689	chromatin interactions
ENSG00000224130	chromatin interactions

Extended variants
information (count: 2307 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:2307 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183887860	chr11:58668207-58668208	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs75062864	chr11:58668221-58668222	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs578015279	chr11:58668222-58668223	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201345643	chr11:58668270-58668271	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs372683105	chr11:58668286-58668287	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs559903271	chr11:58668311-58668312	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs188559970	chr11:58668320-58668321	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs530713616	chr11:58668341-58668342	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs146054955	chr11:58668370-58668371	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs200436855	chr11:58668373-58668374	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs369053394	chr11:58668374-58668375	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs112927155	chr11:58668376-58668377	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35601198	chr11:58668377-58668378	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs5792140	chr11:58668379-58668380	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs542406971	chr11:58668388-58668389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375791461	chr11:58668427-58668428	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs79104182	chr11:58668491-58668492	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs528582458	chr11:58668508-58668509	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs550775662	chr11:58668561-58668562	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs2156349	chr11:58668565-58668566	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs555749325	chr11:58668578-58668579	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs533447237	chr11:58668616-58668617	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs551709858	chr11:58668641-58668642	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs2187267	chr11:58668683-58668684	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534295524	chr11:58668685-58668686	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs549238932	chr11:58668686-58668687	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs547107381	chr11:58668726-58668727	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs369053038	chr11:58668732-58668733	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs116175053	chr11:58668733-58668734	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556397482	chr11:58668761-58668762	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs140912222	chr11:58668767-58668768	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs146357069	chr11:58668772-58668773	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs147888234	chr11:58668780-58668781	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs546836883	chr11:58668821-58668822	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs77025522	chr11:58668897-58668898	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs76576639	chr11:58668910-58668911	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs575751444	chr11:58668935-58668936	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs544350233	chr11:58669018-58669019	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
39	rs141839100	chr11:58669057-58669058	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs545422640	chr11:58669074-58669075	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs191825498	chr11:58669095-58669096	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs184999460	chr11:58669129-58669130	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs549380696	chr11:58669181-58669182	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs567715441	chr11:58669191-58669192	Weak transcription Enhancers Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs113477549	chr11:58669235-58669236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549992015	chr11:58669236-58669237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs948819	chr11:58669239-58669240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538904319	chr11:58669296-58669297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553818323	chr11:58669328-58669329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112439281	chr11:58669359-58669360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Acute lymphoblastic leukemia	20435627	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58651000-58671200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:58659400-58671000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:58665000-58668800	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:58665200-58671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:58666400-58668200	Weak transcription	Primary B cells from cord blood	blood
6	chr11:58667000-58668200	Enhancers	Fetal Thymus	thymus
7	chr11:58667400-58668400	Enhancers	NHDF-Ad	bronchial
8	chr11:58667400-58668600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:58667600-58668400	Active TSS	Brain Angular Gyrus	brain
10	chr11:58667600-58668400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:58667600-58668800	Active TSS	Fetal Brain Female	brain
12	chr11:58667800-58668200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:58667800-58668400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:58667800-58668400	Active TSS	Brain Anterior Caudate	brain
15	chr11:58667800-58668400	Active TSS	Brain Substantia Nigra	brain
16	chr11:58667800-58668400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr11:58667800-58668400	Enhancers	Thymus	Thymus
18	chr11:58667800-58668400	Active TSS	A549	lung
19	chr11:58667800-58668600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:58667800-58668600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:58667800-58668600	Enhancers	Fetal Muscle Trunk	muscle
22	chr11:58667800-58668800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:58667800-58668800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:58667800-58668800	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:58667800-58669000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr11:58668000-58668200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:58668000-58668200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:58668000-58668200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:58668000-58668200	Active TSS	Brain Germinal Matrix	brain
30	chr11:58668000-58668200	Active TSS	Fetal Brain Male	brain
31	chr11:58668000-58668200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr11:58668000-58668200	Active TSS	Fetal Stomach	stomach
33	chr11:58668000-58668200	Flanking Active TSS	NHEK	skin
34	chr11:58668000-58668400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr11:58668000-58668400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:58668000-58668400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:58668000-58668400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:58668000-58668400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:58668000-58668400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:58668000-58668400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:58668000-58668400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:58668000-58668400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:58668000-58668400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:58668000-58668400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:58668000-58668400	Flanking Active TSS	Liver	Liver
46	chr11:58668000-58668400	Active TSS	Brain Cingulate Gyrus	brain
47	chr11:58668000-58668400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr11:58668000-58668400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:58668000-58668400	Active TSS	Fetal Lung	lung
50	chr11:58668000-58668400	Flanking Active TSS	Pancreas	Pancrea

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