Variant report

Variant	nsv518222
Chromosome Location	chr1:171753039-171763549
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	ATF1	chr1:171763226-171763571	K562	blood:	n/a	n/a
2	CEBPB	chr1:171763259-171763794	IMR90	lung:	n/a	n/a
3	CTCF	chr1:171759443-171759510	GM13976	blood:	n/a	n/a
4	CTCF	chr1:171763385-171763427	NHEK	skin:	n/a	n/a
5	CUX1	chr1:171762329-171762531	K562	blood:	n/a	n/a
6	E2F4	chr1:171757315-171757515	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr1:171763282-171763672	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr1:171763283-171763518	GM12878	blood:	n/a	chr1:171763365-171763376
9	FOS	chr1:171757283-171757556	MCF10A-Er-Src	breast:	n/a	chr1:171757427-171757436 chr1:171757462-171757472 chr1:171757426-171757435 chr1:171757462-171757472
10	FOS	chr1:171757268-171757564	MCF10A-Er-Src	breast:	n/a	chr1:171757427-171757436 chr1:171757462-171757472 chr1:171757426-171757435 chr1:171757462-171757472
11	FOS	chr1:171763193-171763747	MCF10A-Er-Src	breast:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
12	FOS	chr1:171754637-171754838	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr1:171763194-171763730	MCF10A-Er-Src	breast:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
14	FOS	chr1:171757894-171758211	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:171754662-171754838	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:171757266-171757610	MCF10A-Er-Src	breast:	n/a	chr1:171757427-171757436 chr1:171757462-171757472 chr1:171757426-171757435 chr1:171757462-171757472
17	FOS	chr1:171763171-171763641	HUVEC	blood vessel:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
18	FOS	chr1:171757982-171758147	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:171763188-171763706	MCF10A-Er-Src	breast:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
20	FOS	chr1:171758111-171758172	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:171763253-171763584	MCF10A-Er-Src	breast:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
22	FOS	chr1:171757255-171757593	MCF10A-Er-Src	breast:	n/a	chr1:171757427-171757436 chr1:171757462-171757472 chr1:171757426-171757435 chr1:171757462-171757472
23	FOS	chr1:171757923-171758244	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr1:171763134-171763603	SK-N-SH	brain:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
25	FOSL2	chr1:171763123-171763760	SK-N-SH	brain:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
26	FOXA1	chr1:171758524-171758789	HepG2	liver:	n/a	chr1:171758659-171758674
27	FOXA2	chr1:171758524-171758752	HepG2	liver:	n/a	n/a
28	GATA1	chr1:171755392-171755995	PBDE	blood:	n/a	n/a
29	GATA1	chr1:171761958-171763618	PBDE	blood:	n/a	chr1:171762690-171762699 chr1:171762687-171762703 chr1:171763020-171763027 chr1:171763397-171763405 chr1:171762513-171762534 chr1:171762890-171762897 chr1:171762516-171762532
30	GATA3	chr1:171758427-171758953	MCF-7	breast:	n/a	chr1:171758522-171758532 chr1:171758913-171758923
31	IRF1	chr1:171754036-171754382	K562	blood:	n/a	n/a
32	JUN	chr1:171763093-171763684	K562	blood:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
33	JUN	chr1:171763185-171763559	K562	blood:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
34	JUN	chr1:171762750-171762940	K562	blood:	n/a	n/a
35	JUN	chr1:171763253-171763585	K562	blood:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
36	JUND	chr1:171763259-171763582	K562	blood:	n/a	chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439 chr1:171763429-171763439
37	MAFF	chr1:171762869-171763115	HepG2	liver:	n/a	chr1:171762989-171763007 chr1:171763015-171763033
38	MAFF	chr1:171762892-171763108	K562	blood:	n/a	chr1:171762989-171763007 chr1:171763015-171763033
39	MAFK	chr1:171762816-171763188	IMR90	lung:	n/a	chr1:171762992-171763012 chr1:171763016-171763031 chr1:171763011-171763031 chr1:171762997-171763012
40	MAFK	chr1:171762980-171763038	HepG2	liver:	n/a	chr1:171762992-171763012 chr1:171763016-171763031 chr1:171763011-171763031 chr1:171762997-171763012
41	MAFK	chr1:171762842-171763162	HepG2	liver:	n/a	chr1:171762992-171763012 chr1:171763016-171763031 chr1:171763011-171763031 chr1:171762997-171763012
42	MAFK	chr1:171762853-171763449	K562	blood:	n/a	chr1:171762992-171763012 chr1:171763016-171763031 chr1:171763011-171763031 chr1:171762997-171763012
43	MXI1	chr1:171753114-171753143	Hela-S3	cervix:	n/a	n/a
44	MYC	chr1:171763232-171763679	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr1:171754660-171754906	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr1:171754597-171754904	MCF10A-Er-Src	breast:	n/a	n/a
47	MYC	chr1:171753172-171753313	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr1:171753088-171753158	H1-hESC	embryonic stem cell:	n/a	n/a
49	MYC	chr1:171757944-171758224	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr1:171757366-171757566	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171755066-171755116	K562	blood:	n/a
2	chr1:171756153-171756203	HEEpiC	esophagus:	n/a
3	chr1:171753628-171753678	PFSK-1	brain:	n/a
4	chr1:171753185-171753235	GM12891	blood:	n/a
5	chr1:171753628-171753678	GM12878	blood:	n/a
6	chr1:171753185-171753235	PrEC	prostate:	n/a
7	chr1:171756153-171756203	NT2-D1	testis:	n/a
8	chr1:171755066-171755116	HCM	heart:	n/a
9	chr1:171753185-171753235	HL-60	blood:	n/a
10	chr1:171753628-171753678	SK-N-SH	brain:	n/a
11	chr1:171753628-171753678	HNPCEpiC	eye:	n/a
12	chr1:171753185-171753235	AG04450	lung:	fetal
13	chr1:171753504-171753554	AG09319	gingival:	n/a
14	chr1:171753417-171753467	HEK293	kidney:	embryo
15	chr1:171756153-171756203	PrEC	prostate:	n/a
16	chr1:171753185-171753235	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:171755066-171755116	U87	brain:	n/a
18	chr1:171753185-171753235	ProgFib	skin:	n/a
19	chr1:171753417-171753467	A549	lung:	n/a
20	chr1:171753628-171753678	NB4	blood:	n/a
21	chr1:171753417-171753467	PANC-1	pancreas:	n/a
22	chr1:171753185-171753235	ECC-1	luminal epithelium:	n/a
23	chr1:171753504-171753554	HL-60	blood:	n/a
24	chr1:171756153-171756203	AoSMC	blood vessel:	n/a
25	chr1:171753628-171753678	Jurkat	blood:	n/a
26	chr1:171753417-171753467	BJ	skin:	n/a
27	chr1:171753504-171753554	HIPEpiC	eye:	n/a
28	chr1:171753185-171753235	GM19239	blood:	n/a
29	chr1:171753185-171753235	U87	brain:	n/a
30	chr1:171756153-171756203	HCT-116	colon:	n/a
31	chr1:171755066-171755116	HCT-116	colon:	n/a
32	chr1:171753504-171753554	NHBE	bronchial:	n/a
33	chr1:171753417-171753467	T-47D	breast:	n/a
34	chr1:171753504-171753554	ECC-1	luminal epithelium:	n/a
35	chr1:171756153-171756203	Caco-2	colon:	n/a
36	chr1:171753185-171753235	PANC-1	pancreas:	n/a
37	chr1:171755066-171755116	GM19239	blood:	n/a
38	chr1:171755066-171755116	A549	lung:	n/a
39	chr1:171756153-171756203	ProgFib	skin:	n/a
40	chr1:171753504-171753554	NT2-D1	testis:	n/a
41	chr1:171755066-171755116	HRPEpiC	eye:	n/a
42	chr1:171753417-171753467	PrEC	prostate:	n/a
43	chr1:171753185-171753235	HRPEpiC	eye:	n/a
44	chr1:171756153-171756203	T-47D	breast:	n/a
45	chr1:171753417-171753467	PFSK-1	brain:	n/a
46	chr1:171753504-171753554	PANC-1	pancreas:	n/a
47	chr1:171755066-171755116	ovcar-3	ovarian:	n/a
48	chr1:171753628-171753678	SAEC	small airway:	n/a
49	chr1:171753628-171753678	SK-N-MC	brain:	n/a
50	chr1:171753185-171753235	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:171755451..171759519-chr1:171762178..171766070,4	MCF-7	breast:
2	chr1:171755451..171759519-chr1:171762178..171766070,4	MCF-7	breast:
3	chr1:171750666..171752698-chr1:171761636..171763154,2	K562	blood:
4	chr1:171709343..171715185-chr1:171748592..171756289,15	K562	blood:
5	chr1:171752566..171754106-chr1:171760621..171762669,2	MCF-7	breast:
6	chr1:171752566..171754106-chr1:171760621..171762669,2	MCF-7	breast:
7	chr1:171750053..171752040-chr1:171760205..171763597,3	MCF-7	breast:
8	chr1:171709572..171711591-chr1:171760208..171762729,2	K562	blood:
9	chr1:171712949..171715185-chr1:171753608..171756289,2	K562	blood:
10	chr1:171754075..171756411-chr1:171764040..171766145,2	MCF-7	breast:
11	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:
12	chr1:171709904..171712357-chr1:171759667..171762572,3	K562	blood:
13	chr1:171760261..171763188-chr1:171766979..171768595,2	MCF-7	breast:
14	chr1:171749779..171754190-chr1:171762974..171767849,5	K562	blood:

Variant related genes	Relation type
METTL13	TF binding region
METTL13	CpG island
ENSG00000117533	chromatin interactions
ENSG00000010165	chromatin interactions

Extended variants
information (count: 431 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2232816	chr1:171753039-171753040	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372467785	chr1:171753043-171753044	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201273694	chr1:171753044-171753045	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139702009	chr1:171753095-171753096	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559392307	chr1:171753110-171753111	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs201975819	chr1:171753142-171753143	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs530070829	chr1:171753155-171753156	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs548168240	chr1:171753156-171753157	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs376246493	chr1:171753157-171753158	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs371404027	chr1:171753163-171753164	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs530716487	chr1:171753168-171753169	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs373455201	chr1:171753189-171753190	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs71637423	chr1:171753215-171753216	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs61733148	chr1:171753241-171753242	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531115808	chr1:171753261-171753262	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs142277500	chr1:171753268-171753269	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs139771818	chr1:171753269-171753270	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs141898298	chr1:171753275-171753276	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs150628966	chr1:171753302-171753303	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs150322704	chr1:171753321-171753322	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs377263240	chr1:171753335-171753336	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs563829048	chr1:171753351-171753352	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs149021718	chr1:171753386-171753387	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs138897333	chr1:171753403-171753404	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs376893557	chr1:171753414-171753415	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs2232817	chr1:171753415-171753416	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs370263614	chr1:171753424-171753425	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs535480986	chr1:171753429-171753430	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs138113758	chr1:171753430-171753431	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs373283423	chr1:171753443-171753444	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377601885	chr1:171753447-171753448	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs138801618	chr1:171753456-171753457	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370591057	chr1:171753460-171753461	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs370974380	chr1:171753484-171753485	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs375478063	chr1:171753489-171753490	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs200794655	chr1:171753508-171753509	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs529325033	chr1:171753513-171753514	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs149343407	chr1:171753518-171753519	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200377798	chr1:171753545-171753546	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs371406091	chr1:171753568-171753569	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs202214318	chr1:171753581-171753582	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs367632340	chr1:171753594-171753595	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs202234390	chr1:171753612-171753613	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs61733149	chr1:171753613-171753614	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs371511385	chr1:171753656-171753657	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs34206094	chr1:171753664-171753665	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs12564440	chr1:171753704-171753705	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574590686	chr1:171753716-171753717	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs180999466	chr1:171753779-171753780	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563352537	chr1:171753913-171753914	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171751400-171754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:171751400-171755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:171751600-171754800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:171751600-171770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:171751800-171753200	Enhancers	Pancreas	Pancrea
6	chr1:171751800-171754200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:171752000-171754600	Weak transcription	HSMMtube	muscle
8	chr1:171752000-171754800	Weak transcription	Small Intestine	intestine
9	chr1:171752000-171755000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:171752000-171773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:171752200-171753400	Weak transcription	Stomach Mucosa	stomach
12	chr1:171752200-171753600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:171752200-171753600	Weak transcription	Fetal Brain Male	brain
14	chr1:171752200-171753800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:171752200-171753800	Weak transcription	NH-A	brain
16	chr1:171752200-171753800	Weak transcription	NHDF-Ad	bronchial
17	chr1:171752200-171755000	Weak transcription	Osteobl	bone
18	chr1:171752200-171759200	Weak transcription	Fetal Heart	heart
19	chr1:171752200-171762200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:171752200-171766600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:171752200-171767400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:171752200-171768200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:171752400-171753400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:171752400-171753400	Enhancers	Hela-S3	cervix
25	chr1:171752400-171753400	Genic enhancers	NHLF	lung
26	chr1:171752400-171753800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:171752400-171753800	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:171752400-171754000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:171752400-171754000	Genic enhancers	HMEC	breast
30	chr1:171752400-171754200	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr1:171752400-171754400	Weak transcription	Fetal Kidney	kidney
32	chr1:171752400-171754800	Genic enhancers	Duodenum Mucosa	Duodenum
33	chr1:171752400-171754800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:171752400-171754800	Weak transcription	HUVEC	blood vessel
35	chr1:171752400-171755400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:171752400-171755400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:171752400-171755400	Genic enhancers	K562	blood
38	chr1:171752400-171755600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:171752400-171766600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:171752400-171767200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:171752600-171753800	Strong transcription	Brain Anterior Caudate	brain
42	chr1:171752600-171754000	Strong transcription	Fetal Thymus	thymus
43	chr1:171752600-171754200	Genic enhancers	Primary T cells from cord blood	blood
44	chr1:171752600-171754200	Genic enhancers	Brain Angular Gyrus	brain
45	chr1:171752600-171754600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:171752600-171754600	Genic enhancers	Liver	Liver
47	chr1:171752600-171754600	Strong transcription	HSMM	muscle
48	chr1:171752600-171755000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:171752600-171755200	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr1:171752600-171755600	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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