Variant report

Variant	nsv521852
Chromosome Location	chr22:29974831-29983138
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	chr22:29981088-29981110	HepG2	liver:	n/a	n/a
2	ATF2	chr22:29976050-29976575	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr22:29977136-29977349	GM12878	blood:	n/a	n/a
4	BCLAF1	chr22:29976888-29977336	GM12878	blood:	n/a	n/a
5	BHLHE40	chr22:29977068-29977320	K562	blood:	n/a	n/a
6	BHLHE40	chr22:29976920-29977375	GM12878	blood:	n/a	n/a
7	BRCA1	chr22:29976489-29976668	HepG2	liver:	n/a	n/a
8	CBX3	chr22:29977083-29977389	K562	blood:	n/a	n/a
9	CCNT2	chr22:29976898-29977247	K562	blood:	n/a	chr22:29977099-29977108
10	CEBPD	chr22:29976199-29977332	HepG2	liver:	n/a	n/a
11	CHD1	chr22:29976719-29977185	GM12878	blood:	n/a	chr22:29977153-29977163
12	CHD1	chr22:29975934-29976855	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr22:29976650-29977310	GM12878	blood:	n/a	chr22:29977153-29977163
14	CHD2	chr22:29976839-29977255	K562	blood:	n/a	chr22:29977153-29977163
15	CHD2	chr22:29976527-29977303	Hela-S3	cervix:	n/a	chr22:29977153-29977163
16	CHD2	chr22:29975975-29977299	HepG2	liver:	n/a	chr22:29977153-29977163
17	CHD2	chr22:29976649-29977267	H1-hESC	embryonic stem cell:	n/a	chr22:29977153-29977163
18	CREB1	chr22:29975752-29977426	HepG2	liver:	n/a	n/a
19	CREB1	chr22:29976885-29977301	A549	lung:	n/a	n/a
20	CREB1	chr22:29976702-29977372	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr22:29977248-29977285	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr22:29977051-29977262	Spleen_OC	spleen:	n/a	chr22:29977111-29977120
23	CTCF	chr22:29978120-29978172	Kidney_OC	kidney:	n/a	n/a
24	E2F4	chr22:29976969-29977322	MCF10A-Er-Src	breast:	n/a	chr22:29977099-29977108 chr22:29977122-29977131 chr22:29977159-29977168
25	E2F6	chr22:29976280-29976443	K562	blood:	n/a	n/a
26	E2F6	chr22:29977535-29977717	K562	blood:	n/a	n/a
27	E2F6	chr22:29977023-29977164	K562	blood:	n/a	chr22:29977099-29977108 chr22:29977122-29977131
28	EBF1	chr22:29976217-29976592	GM12878	blood:	n/a	chr22:29976374-29976385
29	EBF1	chr22:29977109-29977354	GM12878	blood:	n/a	n/a
30	EBF1	chr22:29976241-29976658	GM12878	blood:	n/a	chr22:29976374-29976385
31	EGR1	chr22:29977017-29977307	GM12878	blood:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
32	EGR1	chr22:29976884-29977371	MCF-7	breast:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
33	EGR1	chr22:29976889-29977393	H1-hESC	embryonic stem cell:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
34	EGR1	chr22:29976975-29977328	GM12878	blood:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
35	EGR1	chr22:29976923-29977437	MCF-7	breast:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
36	EGR1	chr22:29976610-29977441	HCT-116	colon:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
37	EGR1	chr22:29976990-29977283	GM12878	blood:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
38	EGR1	chr22:29976892-29977354	ECC-1	luminal epithelium:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
39	EGR1	chr22:29976993-29977398	K562	blood:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
40	EGR1	chr22:29976938-29977344	ECC-1	luminal epithelium:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
41	EGR1	chr22:29976867-29977399	H1-hESC	embryonic stem cell:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
42	EGR1	chr22:29976934-29977364	K562	blood:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
43	EGR1	chr22:29976659-29977401	HCT-116	colon:	n/a	chr22:29977122-29977132 chr22:29977159-29977174 chr22:29977100-29977113 chr22:29977098-29977108 chr22:29977117-29977130 chr22:29977160-29977173 chr22:29977160-29977173 chr22:29977118-29977129 chr22:29977160-29977173 chr22:29977118-29977132 chr22:29977157-29977171
44	ELF1	chr22:29976894-29977323	K562	blood:	n/a	chr22:29977120-29977132 chr22:29977119-29977128
45	ELF1	chr22:29977005-29977352	HepG2	liver:	n/a	chr22:29977120-29977132 chr22:29977119-29977128
46	ELF1	chr22:29976785-29977398	GM12878	blood:	n/a	chr22:29977120-29977132 chr22:29977119-29977128
47	ELF1	chr22:29976815-29977361	MCF-7	breast:	n/a	chr22:29977120-29977132 chr22:29977119-29977128
48	ELF1	chr22:29976963-29977398	K562	blood:	n/a	chr22:29977120-29977132 chr22:29977119-29977128
49	ELF1	chr22:29976721-29977500	GM12878	blood:	n/a	chr22:29977120-29977132 chr22:29977119-29977128
50	ELF1	chr22:29977001-29977339	HepG2	liver:	n/a	chr22:29977120-29977132 chr22:29977119-29977128

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29977677-29977727	HEK293	kidney:	embryo
2	chr22:29976923-29976973	CMK	blood:	n/a
3	chr22:29976923-29976973	GM12892	blood:	n/a
4	chr22:29977063-29977113	NHDF-neo	bronchial:	n/a
5	chr22:29977742-29977792	PANC-1	pancreas:	n/a
6	chr22:29976613-29976663	SKMC	muscle:	n/a
7	chr22:29976613-29976663	PFSK-1	brain:	n/a
8	chr22:29977742-29977792	ProgFib	skin:	n/a
9	chr22:29977063-29977113	SAEC	small airway:	n/a
10	chr22:29977322-29977372	Hepatocyte	liver:	n/a
11	chr22:29976923-29976973	BE2_C	brain:	n/a
12	chr22:29977253-29977303	NHBE	bronchial:	n/a
13	chr22:29978158-29978208	HEEpiC	esophagus:	n/a
14	chr22:29977203-29977253	AG10803	skin:	n/a
15	chr22:29977162-29977212	GM12891	blood:	n/a
16	chr22:29977262-29977312	HCPEpiC	choroid plexus:	n/a
17	chr22:29978158-29978208	HCM	heart:	n/a
18	chr22:29977322-29977372	ProgFib	skin:	n/a
19	chr22:29977253-29977303	RPTEC	kidney:	n/a
20	chr22:29977162-29977212	CMK	blood:	n/a
21	chr22:29977228-29977278	ECC-1	luminal epithelium:	n/a
22	chr22:29977677-29977727	NHBE	bronchial:	n/a
23	chr22:29978158-29978208	K562	blood:	n/a
24	chr22:29977262-29977312	BJ	skin:	n/a
25	chr22:29977742-29977792	NHBE	bronchial:	n/a
26	chr22:29977162-29977212	MCF10A-Er-Src	breast:	n/a
27	chr22:29977162-29977212	SAEC	small airway:	n/a
28	chr22:29977677-29977727	HL-60	blood:	n/a
29	chr22:29977677-29977727	NH-A	brain:	n/a
30	chr22:29977322-29977372	NHBE	bronchial:	n/a
31	chr22:29977322-29977372	HepG2	liver:	n/a
32	chr22:29977063-29977113	AG10803	skin:	n/a
33	chr22:29976613-29976663	NT2-D1	testis:	n/a
34	chr22:29976923-29976973	HAEpiC	amniotic membrane:	n/a
35	chr22:29978158-29978208	HEK293	kidney:	embryo
36	chr22:29977742-29977792	BJ	skin:	n/a
37	chr22:29976923-29976973	HCF	heart:	n/a
38	chr22:29977322-29977372	HL-60	blood:	n/a
39	chr22:29977253-29977303	U87	brain:	n/a
40	chr22:29976923-29976973	SK-N-MC	brain:	n/a
41	chr22:29976923-29976973	NHDF-neo	bronchial:	n/a
42	chr22:29977742-29977792	SK-N-SH_RA	brain:	n/a
43	chr22:29977262-29977312	HNPCEpiC	eye:	n/a
44	chr22:29976923-29976973	AG09319	gingival:	n/a
45	chr22:29976923-29976973	SAEC	small airway:	n/a
46	chr22:29978158-29978208	HIPEpiC	eye:	n/a
47	chr22:29977228-29977278	HMEC	breast:	n/a
48	chr22:29977253-29977303	NHDF-neo	bronchial:	n/a
49	chr22:29977677-29977727	SAEC	small airway:	n/a
50	chr22:29977949-29977999	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29782601..29785697-chr22:29975164..29978533,5	MCF-7	breast:
2	chr22:29948374..29951089-chr22:29975785..29978624,4	MCF-7	breast:
3	chr22:29947295..29951735-chr22:29976015..29980297,4	K562	blood:
4	chr22:29975483..29978642-chr22:29996311..30000725,6	MCF-7	breast:
5	chr22:29948193..29950224-chr22:29975940..29978547,6	MCF-7	breast:
6	chr22:29663275..29666008-chr22:29976454..29978804,2	K562	blood:
7	chr22:29975560..29978145-chr22:29998416..30001350,4	MCF-7	breast:
8	chr22:29951234..29953501-chr22:29974521..29977004,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THOC5-2	chr22:29975746-29976144	NONHSAT084712
2	lnc-THOC5-2	chr22:29976974-29977015	NONHSAT084712

Variant related genes	Relation type
NIPSNAP1	TF binding region
NIPSNAP1	CpG island
ENSG00000100263	chromatin interactions
ENSG00000100296	chromatin interactions
ENSG00000100280	chromatin interactions
ENSG00000186575	chromatin interactions
ENSG00000182944	chromatin interactions

Extended variants
information (count: 338 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs462444	chr22:29974831-29974832	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565122340	chr22:29974878-29974879	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs465938	chr22:29974879-29974880	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs143590317	chr22:29974954-29974955	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559951116	chr22:29974987-29974988	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530051448	chr22:29975007-29975008	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184528108	chr22:29975008-29975009	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570184713	chr22:29975013-29975014	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566821234	chr22:29975036-29975037	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552438499	chr22:29975093-29975094	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs433194	chr22:29975105-29975106	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs150544633	chr22:29975140-29975141	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552999293	chr22:29975154-29975155	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574638960	chr22:29975155-29975156	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368945878	chr22:29975224-29975225	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556513830	chr22:29975233-29975234	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535854616	chr22:29975249-29975250	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs71331205	chr22:29975276-29975277	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34084606	chr22:29975279-29975280	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113987727	chr22:29975292-29975293	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs72491094	chr22:29975300-29975301	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577598233	chr22:29975305-29975306	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148198573	chr22:29975311-29975312	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545484187	chr22:29975342-29975343	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565184761	chr22:29975347-29975348	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577367324	chr22:29975348-29975349	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541574714	chr22:29975349-29975350	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189102005	chr22:29975355-29975356	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372372100	chr22:29975371-29975372	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559812196	chr22:29975387-29975388	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530392316	chr22:29975404-29975405	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9608783	chr22:29975447-29975448	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
33	rs563660179	chr22:29975476-29975477	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs372949025	chr22:29975487-29975488	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs531070797	chr22:29975530-29975531	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs552703283	chr22:29975536-29975537	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570916158	chr22:29975539-29975540	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563283018	chr22:29975574-29975575	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149679338	chr22:29975579-29975580	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568289574	chr22:29975617-29975618	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535724536	chr22:29975618-29975619	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs556579044	chr22:29975622-29975623	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549888090	chr22:29975660-29975661	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569895425	chr22:29975661-29975662	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs181087266	chr22:29975713-29975714	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113680164	chr22:29975736-29975737	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376239161	chr22:29975877-29975878	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs186644990	chr22:29975899-29975900	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs572861869	chr22:29975900-29975901	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs62227968	chr22:29975937-29975938	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29950200-29976000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29950400-29976200	Weak transcription	HMEC	breast
3	chr22:29950800-29976200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr22:29952000-29976400	Weak transcription	Right Atrium	heart
5	chr22:29955000-29976000	Weak transcription	NHEK	skin
6	chr22:29955400-29976000	Weak transcription	HUVEC	blood vessel
7	chr22:29957400-29976200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr22:29957600-29976200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:29958000-29975800	Weak transcription	Stomach Mucosa	stomach
10	chr22:29958400-29976000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:29958400-29976200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:29958400-29976400	Weak transcription	Primary B cells from cord blood	blood
13	chr22:29958400-29976400	Weak transcription	NHDF-Ad	bronchial
14	chr22:29958600-29976200	Weak transcription	HSMM	muscle
15	chr22:29961000-29975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:29962200-29976000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr22:29963600-29976000	Weak transcription	Fetal Brain Male	brain
18	chr22:29963600-29976000	Weak transcription	NH-A	brain
19	chr22:29965200-29976000	Weak transcription	Fetal Kidney	kidney
20	chr22:29965200-29976400	Weak transcription	Fetal Lung	lung
21	chr22:29965400-29975800	Weak transcription	GM12878-XiMat	blood
22	chr22:29965400-29976000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr22:29965400-29976200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:29965400-29976200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:29965400-29976200	Weak transcription	Adipose Nuclei	Adipose
26	chr22:29965400-29976200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:29965400-29976200	Weak transcription	Colonic Mucosa	Colon
28	chr22:29965400-29976400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr22:29965400-29976400	Weak transcription	HSMMtube	muscle
30	chr22:29965600-29976200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr22:29965800-29976000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:29965800-29976200	Weak transcription	Placenta	Placenta
33	chr22:29965800-29976400	Weak transcription	Brain Angular Gyrus	brain
34	chr22:29966200-29975800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr22:29966200-29976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr22:29966200-29976200	Weak transcription	Right Ventricle	heart
37	chr22:29966400-29975600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:29966400-29975600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:29966400-29976000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr22:29966400-29976000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr22:29966400-29976000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr22:29966400-29976000	Weak transcription	NHLF	lung
43	chr22:29966400-29976200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:29966400-29976200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr22:29966400-29976200	Weak transcription	Spleen	Spleen
46	chr22:29966400-29976400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:29966600-29975600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:29966600-29975800	Weak transcription	Thymus	Thymus
49	chr22:29966600-29976000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:29966600-29976000	Weak transcription	Brain Germinal Matrix	brain

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