Variant report

Variant	nsv548059
Chromosome Location	chr1:161007326-161010791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:318)
CpG islands
(count:981)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:161008261-161009026	GM12878	blood:	n/a	n/a
2	ATF2	chr1:161008486-161008902	GM12878	blood:	n/a	n/a
3	BACH1	chr1:161008361-161008716	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr1:161008416-161008916	GM12878	blood:	n/a	chr1:161008801-161008810
5	BCL3	chr1:161008221-161009030	GM12878	blood:	n/a	chr1:161008801-161008810
6	BCLAF1	chr1:161008416-161009012	GM12878	blood:	n/a	chr1:161008801-161008810
7	BCLAF1	chr1:161008316-161009029	GM12878	blood:	n/a	chr1:161008801-161008810
8	BHLHE40	chr1:161008548-161008946	GM12878	blood:	n/a	chr1:161008805-161008821
9	BRCA1	chr1:161008260-161008875	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr1:161008284-161008862	GM12878	blood:	n/a	n/a
11	CHD1	chr1:161008483-161009032	GM12878	blood:	n/a	n/a
12	CHD2	chr1:161008176-161009029	GM12878	blood:	n/a	n/a
13	CHD2	chr1:161008208-161008949	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr1:161008216-161009051	GM12878	blood:	n/a	n/a
15	CTCF	chr1:161008440-161008590	SAEC	small airway:	n/a	chr1:161008543-161008556
16	CTCF	chr1:161008440-161008684	GM19238	blood:	n/a	chr1:161008543-161008556
17	CTCF	chr1:161008511-161008574	Lung_OC	lung:	n/a	chr1:161008543-161008556
18	CTCF	chr1:161008460-161008610	GM12875	blood:	n/a	chr1:161008543-161008556
19	CTCF	chr1:161009240-161009390	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr1:161008428-161008665	GM19239	blood:	n/a	chr1:161008543-161008556
21	CTCF	chr1:161009060-161009210	A549	lung:	n/a	n/a
22	CTCF	chr1:161008520-161008670	HEK293	kidney:	n/a	chr1:161008543-161008556
23	CTCF	chr1:161008480-161008630	SAEC	small airway:	n/a	chr1:161008543-161008556
24	CTCF	chr1:161008540-161008690	GM12865	blood:	n/a	chr1:161008543-161008556
25	CTCF	chr1:161008420-161008570	HRE	kidney:	n/a	chr1:161008543-161008556
26	CTCF	chr1:161008520-161008670	GM12864	blood:	n/a	chr1:161008543-161008556
27	CTCF	chr1:161008420-161008570	GM12874	blood:	n/a	chr1:161008543-161008556
28	CTCF	chr1:161008778-161008792	GM12892	blood:	n/a	n/a
29	CTCF	chr1:161009360-161009510	GM12872	blood:	n/a	n/a
30	CTCF	chr1:161008380-161008530	GM12872	blood:	n/a	n/a
31	CTCF	chr1:161008525-161008542	GM10248	blood:	n/a	n/a
32	CTCF	chr1:161008660-161008810	HMEC	breast:	n/a	n/a
33	CTCF	chr1:161008457-161008642	GM19240	blood:	n/a	chr1:161008543-161008556
34	CTCF	chr1:161008380-161008530	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr1:161008460-161008610	GM12864	blood:	n/a	chr1:161008543-161008556
36	CTCF	chr1:161008449-161008641	GM12891	blood:	n/a	chr1:161008543-161008556
37	CTCF	chr1:161008460-161008610	GM12871	blood:	n/a	chr1:161008543-161008556
38	CTCF	chr1:161008840-161008990	SAEC	small airway:	n/a	n/a
39	CTCF	chr1:161008440-161008590	GM12872	blood:	n/a	chr1:161008543-161008556
40	CTCF	chr1:161008580-161008730	GM12873	blood:	n/a	n/a
41	CTCF	chr1:161009280-161009430	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr1:161008480-161008630	SK-N-SH_RA	brain:	n/a	chr1:161008543-161008556
43	CTCF	chr1:161009360-161009510	HEK293	kidney:	n/a	n/a
44	CTCF	chr1:161008503-161008597	MCF-7	breast:	n/a	chr1:161008543-161008556
45	CTCF	chr1:161008420-161008570	Caco-2	colon:	n/a	chr1:161008543-161008556
46	CTCF	chr1:161008440-161008590	WERI-Rb-1	eye:	n/a	chr1:161008543-161008556
47	CTCF	chr1:161008448-161008628	NHEK	skin:	n/a	chr1:161008543-161008556
48	CTCF	chr1:161008480-161008630	GM12873	blood:	n/a	chr1:161008543-161008556
49	CTCF	chr1:161008420-161008570	SK-N-SH_RA	brain:	n/a	chr1:161008543-161008556
50	CTCF	chr1:161008768-161008864	Lung_OC	lung:	n/a	n/a

(count:981 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161009644-161009694	NHDF-neo	bronchial:	n/a
2	chr1:161010071-161010121	HepG2	liver:	n/a
3	chr1:161008297-161008347	LNCaP	prostate:	n/a
4	chr1:161008824-161008874	AG09319	gingival:	n/a
5	chr1:161008824-161008874	HRCEpiC	kidney:	n/a
6	chr1:161009644-161009694	NHDF-neo	bronchial:	n/a
7	chr1:161010071-161010121	HepG2	liver:	n/a
8	chr1:161008297-161008347	LNCaP	prostate:	n/a
9	chr1:161008824-161008874	AG09319	gingival:	n/a
10	chr1:161008824-161008874	HRCEpiC	kidney:	n/a
11	chr1:161008826-161008876	BJ	skin:	n/a
12	chr1:161008811-161008861	HEK293	kidney:	embryo
13	chr1:161010071-161010121	HRPEpiC	eye:	n/a
14	chr1:161009753-161009803	ovcar-3	ovarian:	n/a
15	chr1:161008705-161008755	HUVEC	blood vessel:	n/a
16	chr1:161010071-161010121	RPTEC	kidney:	n/a
17	chr1:161008705-161008755	U87	brain:	n/a
18	chr1:161009644-161009694	HCF	heart:	n/a
19	chr1:161009644-161009694	HCT-116	colon:	n/a
20	chr1:161009753-161009803	H1-hESC	embryonic stem cell:	embryo
21	chr1:161008127-161008177	PFSK-1	brain:	n/a
22	chr1:161008705-161008755	PFSK-1	brain:	n/a
23	chr1:161009753-161009803	SK-N-SH	brain:	n/a
24	chr1:161008826-161008876	AoSMC	blood vessel:	n/a
25	chr1:161009644-161009694	AG10803	skin:	n/a
26	chr1:161008127-161008177	AG04450	lung:	fetal
27	chr1:161008297-161008347	NH-A	brain:	n/a
28	chr1:161009644-161009694	MCF-7	breast:	n/a
29	chr1:161009753-161009803	HEK293	kidney:	embryo
30	chr1:161008977-161009027	NHBE	bronchial:	n/a
31	chr1:161008542-161008592	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:161008705-161008755	HEEpiC	esophagus:	n/a
33	chr1:161009644-161009694	AG04449	skin:	fetal
34	chr1:161008462-161008512	BE2_C	brain:	n/a
35	chr1:161008542-161008592	NH-A	brain:	n/a
36	chr1:161008811-161008861	T-47D	breast:	n/a
37	chr1:161008977-161009027	NH-A	brain:	n/a
38	chr1:161008826-161008876	ECC-1	luminal epithelium:	n/a
39	chr1:161008811-161008861	Caco-2	colon:	n/a
40	chr1:161008297-161008347	HRPEpiC	eye:	n/a
41	chr1:161008644-161008694	HAEpiC	amniotic membrane:	n/a
42	chr1:161007634-161007684	AoSMC	blood vessel:	n/a
43	chr1:161008824-161008874	ECC-1	luminal epithelium:	n/a
44	chr1:161007634-161007684	GM12892	blood:	n/a
45	chr1:161008826-161008876	LNCaP	prostate:	n/a
46	chr1:161009463-161009513	SK-N-MC	brain:	n/a
47	chr1:161008705-161008755	HCM	heart:	n/a
48	chr1:161008705-161008755	BE2_C	brain:	n/a
49	chr1:161008826-161008876	HAEpiC	amniotic membrane:	n/a
50	chr1:161008705-161008755	GM12892	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161007047..161009717-chr1:161100084..161102311,2	K562	blood:
2	chr1:161007064..161010778-chr1:161101040..161104167,3	MCF-7	breast:
3	chr1:161005808..161012985-chr1:161064732..161070101,9	MCF-7	breast:
4	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:
5	chr1:160989495..160995605-chr1:161004888..161010340,15	MCF-7	breast:
6	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
7	chr1:160990711..160991608-chr1:161008481..161009243,2	MCF-7	breast:
8	chr1:160988819..160994033-chr1:161005548..161011188,8	MCF-7	breast:
9	chr1:161006354..161009878-chr1:161042497..161045575,4	MCF-7	breast:
10	chr1:161006227..161009098-chr1:161086419..161089402,2	MCF-7	breast:
11	chr1:161006846..161009787-chr1:161123441..161125743,2	MCF-7	breast:
12	chr1:161007165..161010190-chr1:161058502..161060475,3	MCF-7	breast:
13	chr1:161007801..161009697-chr1:161067796..161070375,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	USF1	hsa-miR-149-5p	chr1:161009159-161009185

Variant related genes	Relation type
USF1	TF binding region
ENSG00000270149	TF binding region
TSTD1	TF binding region
USF1	CpG island
ENSG00000270149	CpG island
TSTD1	CpG island
ENSG00000143222	chromatin interactions
ENSG00000158769	chromatin interactions
ENSG00000158793	chromatin interactions
ENSG00000162755	chromatin interactions
ENSG00000143217	chromatin interactions
ENSG00000143256	chromatin interactions
ENSG00000158796	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4339888	chr1:161007326-161007327	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563605430	chr1:161007367-161007368	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs376054944	chr1:161007417-161007418	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs151164966	chr1:161007450-161007451	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs565931210	chr1:161007458-161007459	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs535261294	chr1:161007463-161007464	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs112999515	chr1:161007464-161007465	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs369434694	chr1:161007523-161007524	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs547160033	chr1:161007577-161007578	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs370956931	chr1:161007593-161007594	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs374318789	chr1:161007601-161007602	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs368549475	chr1:161007611-161007612	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs539032942	chr1:161007612-161007613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs556208684	chr1:161007654-161007655	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs576362933	chr1:161007661-161007662	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs535747205	chr1:161007671-161007672	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs77356093	chr1:161007697-161007698	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs555742415	chr1:161007698-161007699	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs372161212	chr1:161007721-161007722	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs375523786	chr1:161007758-161007759	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs541250766	chr1:161007769-161007770	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs373198140	chr1:161007782-161007783	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs377413457	chr1:161007841-161007842	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs528878985	chr1:161007869-161007870	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs371123909	chr1:161007929-161007930	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs578059928	chr1:161007940-161007941	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs543413007	chr1:161007965-161007966	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs184649896	chr1:161008028-161008029	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs529293329	chr1:161008099-161008100	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs542903309	chr1:161008105-161008106	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs369590087	chr1:161008154-161008155	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs559654631	chr1:161008205-161008206	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs374547534	chr1:161008206-161008207	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs563593767	chr1:161008216-161008217	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs376666884	chr1:161008260-161008261	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs551971182	chr1:161008316-161008317	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs371114260	chr1:161008342-161008343	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs367666470	chr1:161008343-161008344	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs570415013	chr1:161008360-161008361	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs533054999	chr1:161008361-161008362	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs549749494	chr1:161008378-161008379	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs139587856	chr1:161008402-161008403	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs535479096	chr1:161008405-161008406	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs17181988	chr1:161008424-161008425	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs17175568	chr1:161008428-161008429	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs555681154	chr1:161008450-161008451	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs374350196	chr1:161008462-161008463	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs10908821	chr1:161008535-161008536	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs557942433	chr1:161008549-161008550	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs578000607	chr1:161008552-161008553	Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160991200-161007800	Weak transcription	HSMMtube	muscle
2	chr1:160991800-161007600	Weak transcription	Thymus	Thymus
3	chr1:160991800-161007800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:160992200-161008000	Weak transcription	HUVEC	blood vessel
5	chr1:160997200-161008000	Weak transcription	A549	lung
6	chr1:161001800-161007800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:161002000-161007600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:161002200-161007600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:161002600-161007400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:161003000-161007400	Weak transcription	GM12878-XiMat	blood
11	chr1:161003000-161008200	Weak transcription	Osteobl	bone
12	chr1:161003200-161007400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:161003200-161007600	Weak transcription	HSMM	muscle
14	chr1:161003200-161007800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:161003200-161008800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:161003800-161007400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:161003800-161007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:161004000-161007600	Weak transcription	HMEC	breast
19	chr1:161004000-161009200	Weak transcription	Hela-S3	cervix
20	chr1:161004200-161008000	Weak transcription	Spleen	Spleen
21	chr1:161005000-161007400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:161005000-161007600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:161005000-161009400	Weak transcription	K562	blood
24	chr1:161005200-161007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:161005200-161007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:161005400-161007400	Weak transcription	Brain Substantia Nigra	brain
27	chr1:161005600-161007400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:161005600-161007400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:161005600-161007400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:161005600-161007400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:161005600-161007400	Weak transcription	Fetal Lung	lung
32	chr1:161005600-161007600	Weak transcription	Fetal Muscle Leg	muscle
33	chr1:161005600-161008000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:161005800-161007400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:161005800-161007600	Weak transcription	Fetal Kidney	kidney
36	chr1:161005800-161008200	Weak transcription	Right Ventricle	heart
37	chr1:161005800-161008200	Weak transcription	NHLF	lung
38	chr1:161006000-161008000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:161006000-161008200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:161006400-161008000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:161006600-161007800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:161006600-161008200	Weak transcription	Brain Angular Gyrus	brain
43	chr1:161006800-161007400	Enhancers	Primary B cells from cord blood	blood
44	chr1:161006800-161007600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:161006800-161007600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr1:161006800-161007600	Enhancers	Esophagus	oesophagus
47	chr1:161006800-161007600	Strong transcription	Lung	lung
48	chr1:161006800-161007600	Enhancers	HepG2	liver
49	chr1:161007000-161007400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:161007000-161007400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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