Variant report

Variant	esv1806500
Chromosome Location	chr22:29604787-29635071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:374)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr22:29611792-29612062	GM12878	blood:	n/a	n/a
2	BCL11A	chr22:29604981-29605256	GM12878	blood:	n/a	chr22:29605192-29605205
3	BCL3	chr22:29628218-29628633	GM12878	blood:	n/a	n/a
4	BCL3	chr22:29607384-29607821	GM12878	blood:	n/a	n/a
5	BCL3	chr22:29627387-29627732	GM12878	blood:	n/a	n/a
6	BCL3	chr22:29627837-29628113	GM12878	blood:	n/a	n/a
7	BCL3	chr22:29607350-29607787	GM12878	blood:	n/a	n/a
8	BHLHE40	chr22:29616972-29617209	K562	blood:	n/a	chr22:29617116-29617125 chr22:29617116-29617125 chr22:29617115-29617124 chr22:29617114-29617127
9	BHLHE40	chr22:29616987-29617222	GM12878	blood:	n/a	chr22:29617116-29617125 chr22:29617116-29617125 chr22:29617115-29617124 chr22:29617114-29617127
10	BHLHE40	chr22:29617036-29617131	HepG2	liver:	n/a	chr22:29617116-29617125 chr22:29617116-29617125 chr22:29617115-29617124 chr22:29617114-29617127
11	BHLHE40	chr22:29621739-29621873	K562	blood:	n/a	chr22:29621804-29621820
12	CEBPB	chr22:29613270-29613658	IMR90	lung:	n/a	chr22:29613465-29613476
13	CEBPB	chr22:29613260-29613667	HepG2	liver:	n/a	chr22:29613465-29613476
14	CEBPB	chr22:29613333-29613598	A549	lung:	n/a	chr22:29613465-29613476
15	CEBPB	chr22:29613294-29613677	HepG2	liver:	n/a	chr22:29613465-29613476
16	CEBPB	chr22:29613288-29613671	MCF-7	breast:	n/a	chr22:29613465-29613476
17	CEBPB	chr22:29613324-29613524	HepG2	liver:	n/a	chr22:29613465-29613476
18	CEBPB	chr22:29613330-29613589	Hela-S3	cervix:	n/a	chr22:29613465-29613476
19	CEBPB	chr22:29613260-29613670	HepG2	liver:	n/a	chr22:29613465-29613476
20	CEBPD	chr22:29613362-29613544	HepG2	liver:	n/a	n/a
21	CEBPD	chr22:29613360-29613608	HepG2	liver:	n/a	n/a
22	CHD1	chr22:29604346-29605402	GM12878	blood:	n/a	n/a
23	CHD2	chr22:29616489-29616785	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr22:29611066-29611181	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr22:29628513-29628664	GM12878	blood:	n/a	n/a
26	CHD2	chr22:29613530-29613531	GM12878	blood:	n/a	n/a
27	CTCF	chr22:29607060-29607210	HepG2	liver:	n/a	n/a
28	CTCF	chr22:29610220-29610370	GM12878	blood:	n/a	n/a
29	CTCF	chr22:29610260-29610410	NB4	blood:	n/a	n/a
30	CTCF	chr22:29616440-29616590	AG04450	lung:	n/a	n/a
31	CTCF	chr22:29616501-29616526	MCF-7	breast:	n/a	n/a
32	CTCF	chr22:29610275-29610371	K562	blood:	n/a	n/a
33	CTCF	chr22:29616481-29616587	MCF-7	breast:	n/a	n/a
34	CTCF	chr22:29616527-29616533	MCF-7	breast:	n/a	n/a
35	CTCF	chr22:29616380-29616530	HepG2	liver:	n/a	n/a
36	CTCF	chr22:29610540-29610690	K562	blood:	n/a	n/a
37	CTCF	chr22:29616424-29616573	LNCaP	prostate:	n/a	n/a
38	CTCF	chr22:29613300-29613450	HepG2	liver:	n/a	n/a
39	CTCF	chr22:29621840-29621990	NHEK	skin:	n/a	n/a
40	CTCF	chr22:29604640-29604790	GM12869	blood:	n/a	n/a
41	CTCF	chr22:29610246-29610435	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr22:29616507-29616554	MCF-7	breast:	n/a	n/a
43	CTCF	chr22:29604640-29604790	AG04450	lung:	n/a	n/a
44	CTCF	chr22:29604740-29604890	BE2_C	brain:	n/a	n/a
45	CTCF	chr22:29616496-29616556	MCF-7	breast:	n/a	n/a
46	CTCF	chr22:29621800-29621950	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr22:29610840-29610990	GM12869	blood:	n/a	chr22:29610861-29610870
48	CTCF	chr22:29610260-29610410	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr22:29610299-29610358	MCF-7	breast:	n/a	n/a
50	CTCF	chr22:29616465-29616557	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29605147-29605197	GM12892	blood:	n/a
2	chr22:29605147-29605197	AG10803	skin:	n/a
3	chr22:29605147-29605197	HRPEpiC	eye:	n/a
4	chr22:29605147-29605197	A549	lung:	n/a
5	chr22:29605147-29605197	HNPCEpiC	eye:	n/a
6	chr22:29605147-29605197	HEK293	kidney:	embryo
7	chr22:29605147-29605197	Jurkat	blood:	n/a
8	chr22:29605147-29605197	SKMC	muscle:	n/a
9	chr22:29605147-29605197	AoSMC	blood vessel:	n/a
10	chr22:29605147-29605197	NHBE	bronchial:	n/a
11	chr22:29605147-29605197	IMR90	lung:	fetal
12	chr22:29605147-29605197	RPTEC	kidney:	n/a
13	chr22:29605147-29605197	MCF10A-Er-Src	breast:	n/a
14	chr22:29605147-29605197	SK-N-SH	brain:	n/a
15	chr22:29605147-29605197	MCF-7	breast:	n/a
16	chr22:29605147-29605197	GM06990	blood:	n/a
17	chr22:29605147-29605197	HAEpiC	amniotic membrane:	n/a
18	chr22:29605147-29605197	AG09319	gingival:	n/a
19	chr22:29605147-29605197	PFSK-1	brain:	n/a
20	chr22:29605147-29605197	K562	blood:	n/a
21	chr22:29605147-29605197	HIPEpiC	eye:	n/a
22	chr22:29605147-29605197	HCM	heart:	n/a
23	chr22:29605147-29605197	ovcar-3	ovarian:	n/a
24	chr22:29605147-29605197	Hela-S3	cervix:	n/a
25	chr22:29605147-29605197	ECC-1	luminal epithelium:	n/a
26	chr22:29605147-29605197	HPAEpiC	pulmonary alveolar:	n/a
27	chr22:29605147-29605197	NB4	blood:	n/a
28	chr22:29605147-29605197	T-47D	breast:	n/a
29	chr22:29605147-29605197	HMEC	breast:	n/a
30	chr22:29605147-29605197	HUVEC	blood vessel:	n/a
31	chr22:29605147-29605197	AG04450	lung:	fetal
32	chr22:29605147-29605197	Hepatocyte	liver:	n/a
33	chr22:29605147-29605197	GM12891	blood:	n/a
34	chr22:29605147-29605197	U87	brain:	n/a
35	chr22:29605147-29605197	HRE	kidney:	n/a
36	chr22:29605147-29605197	PANC-1	pancreas:	n/a
37	chr22:29605147-29605197	BE2_C	brain:	n/a
38	chr22:29605147-29605197	H1-hESC	embryonic stem cell:	embryo
39	chr22:29605147-29605197	GM19239	blood:	n/a
40	chr22:29605147-29605197	NHDF-neo	bronchial:	n/a
41	chr22:29605147-29605197	SK-N-SH_RA	brain:	n/a
42	chr22:29605147-29605197	LNCaP	prostate:	n/a
43	chr22:29605147-29605197	AG09309	skin:	n/a
44	chr22:29605147-29605197	HRCEpiC	kidney:	n/a
45	chr22:29605147-29605197	AG04449	skin:	fetal
46	chr22:29605147-29605197	HL-60	blood:	n/a
47	chr22:29605147-29605197	HCT-116	colon:	n/a
48	chr22:29605147-29605197	GM12878	blood:	n/a
49	chr22:29605147-29605197	HCPEpiC	choroid plexus:	n/a
50	chr22:29605147-29605197	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:29622067..29623775-chr22:29624148..29626498,2	K562	blood:
2	chr22:29616773..29618442-chr22:29619234..29622066,2	MCF-7	breast:
3	chr22:29611701..29614819-chr22:29620518..29622673,3	K562	blood:
4	chr22:29616773..29618442-chr22:29619234..29622066,2	MCF-7	breast:
5	chr22:29617687..29619581-chr22:29621568..29623250,2	K562	blood:
6	chr22:29601873..29603950-chr22:29609240..29612185,2	MCF-7	breast:
7	chr22:29633274..29634988-chr22:29655827..29657402,2	MCF-7	breast:
8	chr22:29609378..29611506-chr22:29620734..29622343,2	MCF-7	breast:
9	chr22:29601072..29604199-chr22:29606005..29610482,4	MCF-7	breast:
10	chr22:29612167..29614111-chr22:29627917..29629464,2	K562	blood:
11	chr22:29602636..29604550-chr22:29611942..29613555,2	K562	blood:
12	chr22:29612161..29619581-chr22:29619796..29623989,9	K562	blood:
13	chr22:29612161..29619581-chr22:29619796..29623989,9	K562	blood:
14	chr22:29619482..29621531-chr22:29625031..29626896,2	K562	blood:
15	chr22:29618425..29620618-chr22:29628418..29631413,2	K562	blood:
16	chr22:29611701..29614819-chr22:29620518..29622673,3	K562	blood:
17	chr22:29612019..29613931-chr22:29615202..29617842,2	MCF-7	breast:
18	chr22:29619482..29621531-chr22:29625031..29626896,2	K562	blood:
19	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:
20	chr22:29609413..29611410-chr22:29651943..29654586,2	MCF-7	breast:
21	chr22:29609378..29611506-chr22:29620734..29622343,2	MCF-7	breast:
22	chr22:29617283..29619466-chr22:29651521..29653548,2	K562	blood:
23	chr22:29603086..29606057-chr22:29664265..29665857,2	MCF-7	breast:
24	chr22:29617687..29619581-chr22:29621568..29623250,2	K562	blood:
25	chr22:29605515..29607665-chr22:29648338..29651149,2	K562	blood:
26	chr22:29616331..29618039-chr22:29656036..29658500,2	MCF-7	breast:
27	chr22:29621556..29624508-chr22:29627726..29630197,3	K562	blood:
28	chr22:29616106..29618160-chr22:29628448..29630302,2	K562	blood:
29	chr22:29601902..29603639-chr22:29605724..29608269,2	K562	blood:
30	chr22:29601808..29604222-chr22:29612669..29614934,2	MCF-7	breast:
31	chr22:29622067..29623775-chr22:29624148..29626498,2	K562	blood:
32	chr22:29600453..29603035-chr22:29615819..29618230,2	K562	blood:
33	chr22:29612019..29613931-chr22:29615202..29617842,2	MCF-7	breast:
34	chr22:29619234..29621532-chr22:29627625..29630372,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EWSR1-3	chr22:29620225-29620479	expReg_chr22_2008_+
2	lnc-EWSR1-4	chr22:29627671-29629457	NONHSAT084681
3	lnc-EWSR1-4	chr22:29629603-29629851	NONHSAT084681

No data

Variant related genes	Relation type
EMID1	TF binding region
EMID1	CpG island
ENSG00000237015	chromatin interactions
ENSG00000186998	chromatin interactions
ENSG00000182944	chromatin interactions

Extended variants
information (count: 1217 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1217 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs132373	chr22:29604787-29604788	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374623787	chr22:29604830-29604831	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183747030	chr22:29604891-29604892	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533665090	chr22:29604892-29604893	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs189195688	chr22:29604912-29604913	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs8135503	chr22:29604972-29604973	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181952275	chr22:29604973-29604974	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532199190	chr22:29604986-29604987	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547157364	chr22:29605005-29605006	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs559232776	chr22:29605044-29605045	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186561067	chr22:29605098-29605099	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548184860	chr22:29605101-29605102	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs569674101	chr22:29605103-29605104	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs9625735	chr22:29605104-29605105	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150545842	chr22:29605118-29605119	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190285035	chr22:29605223-29605224	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539243878	chr22:29605296-29605297	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554358622	chr22:29605345-29605346	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368075918	chr22:29605384-29605385	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545937026	chr22:29605449-29605450	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117082449	chr22:29605453-29605454	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554945663	chr22:29605477-29605478	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576414185	chr22:29605499-29605500	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543387101	chr22:29605518-29605519	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113821550	chr22:29605519-29605520	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117345553	chr22:29605542-29605543	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374205282	chr22:29605543-29605544	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs11912502	chr22:29605569-29605570	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs73882499	chr22:29605571-29605572	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529840106	chr22:29605574-29605575	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542796840	chr22:29605622-29605623	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375516730	chr22:29605631-29605632	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563236402	chr22:29605678-29605679	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78429184	chr22:29605683-29605684	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35369066	chr22:29605724-29605725	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115172792	chr22:29605807-29605808	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs528240930	chr22:29605819-29605820	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544195597	chr22:29605845-29605846	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369927690	chr22:29605851-29605852	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530086969	chr22:29605870-29605871	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566295526	chr22:29605898-29605899	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs536426183	chr22:29605951-29605952	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373556352	chr22:29606012-29606013	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs76882039	chr22:29606090-29606091	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555266985	chr22:29606116-29606117	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs13054918	chr22:29606157-29606158	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181886938	chr22:29606182-29606183	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576824763	chr22:29606228-29606229	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs553677841	chr22:29606240-29606241	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201296519	chr22:29606242-29606243	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD

Chromatin state (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29602200-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:29602400-29605200	Weak transcription	Gastric	stomach
3	chr22:29602400-29605800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29602400-29606200	Flanking Active TSS	Fetal Brain Female	brain
5	chr22:29602800-29604800	Enhancers	Lung	lung
6	chr22:29602800-29605200	Enhancers	Spleen	Spleen
7	chr22:29602800-29605600	Enhancers	Brain Substantia Nigra	brain
8	chr22:29602800-29611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:29602800-29616000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:29602800-29616000	Weak transcription	Ovary	ovary
11	chr22:29603000-29604800	Enhancers	Brain Cingulate Gyrus	brain
12	chr22:29603000-29606000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr22:29603000-29606000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
14	chr22:29603000-29610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:29603200-29604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:29603200-29605800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:29603200-29605800	Genic enhancers	Fetal Stomach	stomach
18	chr22:29603400-29605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr22:29603400-29605000	Enhancers	Primary hematopoietic stem cells	blood
20	chr22:29603400-29605000	Enhancers	Pancreas	Pancrea
21	chr22:29603400-29605200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29603400-29605400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr22:29603400-29606000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:29603400-29606000	Enhancers	Fetal Lung	lung
25	chr22:29603400-29608800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr22:29603400-29611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr22:29603600-29606000	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr22:29603600-29606800	Weak transcription	Fetal Kidney	kidney
29	chr22:29603800-29604800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr22:29603800-29605800	Flanking Active TSS	GM12878-XiMat	blood
31	chr22:29603800-29612600	Weak transcription	Brain Angular Gyrus	brain
32	chr22:29604000-29604800	Enhancers	Fetal Thymus	thymus
33	chr22:29604000-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:29604000-29606000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:29604000-29606200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:29604000-29606200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
37	chr22:29604000-29616200	Weak transcription	Thymus	Thymus
38	chr22:29604200-29605600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr22:29604200-29605600	Enhancers	Brain Hippocampus Middle	brain
40	chr22:29604200-29605600	Enhancers	Duodenum Mucosa	Duodenum
41	chr22:29604200-29605800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr22:29604400-29604800	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr22:29604400-29605000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:29604400-29605000	Enhancers	Brain Germinal Matrix	brain
45	chr22:29604400-29605400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:29604600-29604800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr22:29604600-29605000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr22:29604600-29605000	Flanking Active TSS	Fetal Brain Male	brain
49	chr22:29604600-29605400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29604600-29605400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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