Variant report

Variant	nsv900571
Chromosome Location	chr13:76123678-76207565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1071)
CpG islands
(count:916)
Chromatin interactive
region (count:33)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1071 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:76123487-76124101	K562	blood:	n/a	n/a
2	ARID3A	chr13:76140823-76141209	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:76140888-76140979	K562	blood:	n/a	n/a
4	ARID3A	chr13:76123347-76124671	HepG2	liver:	n/a	n/a
5	ATF2	chr13:76123176-76123915	GM12878	blood:	n/a	n/a
6	ATF2	chr13:76161744-76162155	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr13:76123258-76124165	GM12878	blood:	n/a	n/a
8	ATF2	chr13:76161743-76162267	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr13:76124408-76124734	K562	blood:	n/a	n/a
10	BACH1	chr13:76123468-76123932	K562	blood:	n/a	n/a
11	BACH1	chr13:76123391-76124432	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr13:76130079-76130395	K562	blood:	n/a	n/a
13	BACH1	chr13:76152548-76152550	K562	blood:	n/a	n/a
14	BATF	chr13:76123360-76123696	GM12878	blood:	n/a	n/a
15	BATF	chr13:76153753-76153938	GM12878	blood:	n/a	n/a
16	BATF	chr13:76153723-76153987	GM12878	blood:	n/a	n/a
17	BCLAF1	chr13:76123254-76124297	GM12878	blood:	n/a	n/a
18	BCLAF1	chr13:76123288-76124229	GM12878	blood:	n/a	n/a
19	BHLHE40	chr13:76130055-76130270	K562	blood:	n/a	n/a
20	BHLHE40	chr13:76123284-76124344	HepG2	liver:	n/a	n/a
21	BHLHE40	chr13:76123316-76124079	K562	blood:	n/a	n/a
22	BHLHE40	chr13:76205660-76206036	K562	blood:	n/a	n/a
23	BHLHE40	chr13:76123174-76124311	GM12878	blood:	n/a	n/a
24	BHLHE40	chr13:76123495-76124021	A549	lung:	n/a	n/a
25	BRCA1	chr13:76123474-76123899	HepG2	liver:	n/a	n/a
26	BRCA1	chr13:76123436-76123895	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr13:76153639-76153677	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr13:76123401-76123970	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr13:76123410-76124147	GM12878	blood:	n/a	n/a
30	CBX3	chr13:76123316-76123877	K562	blood:	n/a	n/a
31	CBX3	chr13:76159288-76159637	K562	blood:	n/a	n/a
32	CBX3	chr13:76123404-76123686	K562	blood:	n/a	n/a
33	CBX3	chr13:76159335-76159585	K562	blood:	n/a	n/a
34	CCNT2	chr13:76123437-76124120	K562	blood:	n/a	n/a
35	CEBPB	chr13:76181615-76181915	K562	blood:	n/a	chr13:76181780-76181791
36	CEBPB	chr13:76164903-76165196	HepG2	liver:	n/a	chr13:76165016-76165027
37	CEBPB	chr13:76124415-76124713	K562	blood:	n/a	n/a
38	CEBPB	chr13:76123398-76123912	HepG2	liver:	n/a	n/a
39	CEBPB	chr13:76190090-76190221	HepG2	liver:	n/a	n/a
40	CEBPB	chr13:76190055-76190136	K562	blood:	n/a	n/a
41	CEBPB	chr13:76124385-76124747	IMR90	lung:	n/a	n/a
42	CEBPB	chr13:76161789-76162201	HepG2	liver:	n/a	n/a
43	CEBPB	chr13:76181617-76181946	HepG2	liver:	n/a	chr13:76181780-76181791
44	CEBPB	chr13:76181643-76181918	IMR90	lung:	n/a	chr13:76181780-76181791
45	CEBPB	chr13:76161851-76162197	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr13:76181634-76181917	A549	lung:	n/a	chr13:76181780-76181791
47	CEBPB	chr13:76140760-76141096	A549	lung:	n/a	n/a
48	CEBPB	chr13:76133530-76133960	IMR90	lung:	n/a	n/a
49	CEBPB	chr13:76140737-76141073	IMR90	lung:	n/a	n/a
50	CEBPB	chr13:76133595-76133998	A549	lung:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:76194082-76194132	PANC-1	pancreas:	n/a
2	chr13:76194082-76194132	PANC-1	pancreas:	n/a
3	chr13:76128081-76128131	ECC-1	luminal epithelium:	n/a
4	chr13:76124267-76124317	Caco-2	colon:	n/a
5	chr13:76128081-76128131	HNPCEpiC	eye:	n/a
6	chr13:76124424-76124474	U87	brain:	n/a
7	chr13:76194354-76194404	Hela-S3	cervix:	n/a
8	chr13:76203148-76203198	BE2_C	brain:	n/a
9	chr13:76123907-76123957	Caco-2	colon:	n/a
10	chr13:76124424-76124474	MCF-7	breast:	n/a
11	chr13:76123901-76123951	HAEpiC	amniotic membrane:	n/a
12	chr13:76124267-76124317	SAEC	small airway:	n/a
13	chr13:76128081-76128131	MCF-7	breast:	n/a
14	chr13:76123895-76123945	NHDF-neo	bronchial:	n/a
15	chr13:76124424-76124474	HIPEpiC	eye:	n/a
16	chr13:76123781-76123831	Jurkat	blood:	n/a
17	chr13:76194082-76194132	A549	lung:	n/a
18	chr13:76194354-76194404	NHBE	bronchial:	n/a
19	chr13:76194354-76194404	SAEC	small airway:	n/a
20	chr13:76123895-76123945	HEEpiC	esophagus:	n/a
21	chr13:76123901-76123951	ECC-1	luminal epithelium:	n/a
22	chr13:76195284-76195334	AG09309	skin:	n/a
23	chr13:76203148-76203198	BJ	skin:	n/a
24	chr13:76123853-76123903	AG10803	skin:	n/a
25	chr13:76207486-76207536	MCF10A-Er-Src	breast:	n/a
26	chr13:76123781-76123831	HNPCEpiC	eye:	n/a
27	chr13:76203148-76203198	NT2-D1	testis:	n/a
28	chr13:76203148-76203198	U87	brain:	n/a
29	chr13:76203148-76203198	ProgFib	skin:	n/a
30	chr13:76194082-76194132	Caco-2	colon:	n/a
31	chr13:76123853-76123903	HIPEpiC	eye:	n/a
32	chr13:76123781-76123831	MCF-7	breast:	n/a
33	chr13:76207486-76207536	U87	brain:	n/a
34	chr13:76124267-76124317	HRE	kidney:	n/a
35	chr13:76124267-76124317	RPTEC	kidney:	n/a
36	chr13:76194086-76194136	HRE	kidney:	n/a
37	chr13:76194082-76194132	HPAEpiC	pulmonary alveolar:	n/a
38	chr13:76123904-76123954	HepG2	liver:	n/a
39	chr13:76128081-76128131	NT2-D1	testis:	n/a
40	chr13:76123904-76123954	MCF10A-Er-Src	breast:	n/a
41	chr13:76203148-76203198	HCF	heart:	n/a
42	chr13:76128081-76128131	HCPEpiC	choroid plexus:	n/a
43	chr13:76207486-76207536	GM06990	blood:	n/a
44	chr13:76207486-76207536	NT2-D1	testis:	n/a
45	chr13:76194354-76194404	SK-N-MC	brain:	n/a
46	chr13:76124267-76124317	A549	lung:	n/a
47	chr13:76123901-76123951	SK-N-MC	brain:	n/a
48	chr13:76123904-76123954	GM19239	blood:	n/a
49	chr13:76194086-76194136	PrEC	prostate:	n/a
50	chr13:76194354-76194404	ECC-1	luminal epithelium:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:76160277..76161808-chr13:76162172..76164407,2	K562	blood:
2	chr13:76124376..76126025-chr13:76132730..76134454,2	K562	blood:
3	chr13:76191703..76193489-chr13:76193582..76195230,2	MCF-7	breast:
4	chr13:76055137..76056712-chr13:76122225..76124650,2	MCF-7	breast:
5	chr13:76177950..76180812-chr13:76181762..76184474,3	MCF-7	breast:
6	chr13:76111859..76112746-chr13:76123326..76123936,2	MCF-7	breast:
7	chr13:76152309..76155041-chr13:76158108..76159629,2	K562	blood:
8	chr13:76124076..76125593-chr13:76162284..76165016,2	K562	blood:
9	chr13:76152309..76155041-chr13:76158108..76159629,2	K562	blood:
10	chr13:76124018..76125732-chr13:76125795..76127481,2	MCF-7	breast:
11	chr13:76143405..76146053-chr13:76147700..76149492,2	K562	blood:
12	chr13:76123475..76126296-chr13:76136199..76138617,2	MCF-7	breast:
13	chr13:76056169..76056921-chr13:76123095..76123971,5	MCF-7	breast:
14	chr13:76111452..76114150-chr13:76122087..76125338,6	MCF-7	breast:
15	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:
16	chr13:76107791..76110428-chr13:76144234..76145882,2	K562	blood:
17	chr13:76124076..76125593-chr13:76162284..76165016,2	K562	blood:
18	chr13:76109717..76113590-chr13:76122029..76126081,5	MCF-7	breast:
19	chr13:76194856..76197534-chr13:76208958..76210482,2	MCF-7	breast:
20	chr13:76123286..76125327-chr13:76160450..76162067,2	K562	blood:
21	chr13:76124376..76126025-chr13:76132730..76134454,2	K562	blood:
22	chr13:76141660..76144515-chr13:76144732..76146608,2	MCF-7	breast:
23	chr13:76115839..76118347-chr13:76129572..76131579,2	K562	blood:
24	chr13:76122653..76127194-chr13:76130432..76132318,4	MCF-7	breast:
25	chr13:76124018..76125732-chr13:76125795..76127481,2	MCF-7	breast:
26	chr13:76123894..76126209-chr13:76129145..76131618,3	K562	blood:
27	chr13:76153049..76155664-chr13:76161169..76162949,2	K562	blood:
28	chr13:76160277..76161808-chr13:76162172..76164407,2	K562	blood:
29	chr13:76110734..76112526-chr13:76124795..76127675,2	K562	blood:
30	chr13:76198632..76200226-chr13:77564882..77566565,2	K562	blood:
31	chr13:76143405..76146053-chr13:76147700..76149492,2	K562	blood:
32	chr13:76123621..76124364-chrX:134654253..134654910,2	NB4	blood:
33	chr13:76153049..76155664-chr13:76161169..76162949,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LMO7-2	chr13:76197405-76197456	NONHSAT034367
2	lnc-LMO7-2	chr13:76143596-76143643	ENSG00000261553.1
3	lnc-COMMD6-2	chr13:76192938-76193044	NONHSAT034366
4	lnc-COMMD6-2	chr13:76178962-76179081	ENSG00000261105.1
5	lnc-COMMD6-2	chr13:76192906-76193042	ENSG00000261105.1
6	lnc-COMMD6-4	chr13:76161358-76161715	l_873_chr13:76072523-76201534_testes
7	lnc-COMMD6-1	chr13:76203370-76204548	ENSG00000228444.1
8	lnc-LMO7-2	chr13:76141363-76141448	ENSG00000261553.1
9	lnc-COMMD6-2	chr13:76196396-76196439	ENSG00000261105.1
10	lnc-LMO7-2	chr13:76200907-76201477	NONHSAT034367
11	lnc-LMO7-2	chr13:76140968-76140987	ENSG00000261553.1
12	lnc-COMMD6-2	chr13:76193379-76193500	NONHSAT034366
13	lnc-UCHL3-10	chr13:76205407-76206271	ENSG00000228444.2
14	lnc-COMMD6-1	chr13:76205407-76206271	ENSG00000228444.1
15	lnc-LMO7-2	chr13:76197407-76197456	ENSG00000261553.1
16	lnc-COMMD6-6	chr13:76185888-76186137	NONHSAT034365
17	lnc-COMMD6-5	chr13:76180497-76180780	NONHSAT034364
18	lnc-COMMD6-2	chr13:76178836-76179081	ENSG00000261105.1
19	lnc-COMMD6-2	chr13:76192906-76193042	ENSG00000261105.1
20	lnc-COMMD6-4	chr13:76201481-76201534	l_873_chr13:76072523-76201534_testes
21	lnc-LMO7-2	chr13:76195899-76196004	ENSG00000261553.1
22	lnc-COMMD6-4	chr13:76140115-76140230	l_873_chr13:76072523-76201534_testes
23	lnc-LMO7-2	chr13:76169051-76169126	ENSG00000261553.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	UCHL3	hsa-miR-183-5p	chr13:76179989-76180008

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000261553	TF binding region
ENSG00000228444	TF binding region
UCHL3	TF binding region
LMO7	TF binding region
COMMD6	CpG island
ENSG00000261553	CpG island
ENSG00000228444	CpG island
UCHL3	CpG island
LMO7	CpG island
ENSG00000102805	chromatin interactions
ENSG00000118939	chromatin interactions
ENSG00000165359	chromatin interactions
ENSG00000136111	chromatin interactions
ENSG00000136153	chromatin interactions
ENSG00000188243	chromatin interactions
ENSG00000261553	chromatin interactions
ENSG00000225235	chromatin interactions
ENSG00000261105	chromatin interactions

Extended variants
information (count: 3024 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3024 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2281762	chr13:76123678-76123679	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558827747	chr13:76123694-76123695	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs112313138	chr13:76123731-76123732	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs572753140	chr13:76123732-76123733	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs61472085	chr13:76123735-76123736	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541444652	chr13:76123740-76123741	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs373126097	chr13:76123777-76123778	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs4885310	chr13:76123785-76123786	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542407363	chr13:76123796-76123797	Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs192416535	chr13:76123816-76123817	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs531040642	chr13:76123858-76123859	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs369238708	chr13:76123860-76123861	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs149695719	chr13:76123902-76123903	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs8192737	chr13:76123911-76123912	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs367636758	chr13:76123931-76123932	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs201923490	chr13:76123942-76123943	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs199605560	chr13:76123943-76123944	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs7996485	chr13:76123947-76123948	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528032236	chr13:76123950-76123951	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs148862350	chr13:76123951-76123952	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs138830150	chr13:76123955-76123956	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs535349329	chr13:76123970-76123971	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs141970788	chr13:76123991-76123992	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs372121001	chr13:76124011-76124012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs368942788	chr13:76124103-76124104	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569027565	chr13:76124114-76124115	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs372214644	chr13:76124145-76124146	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs8192738	chr13:76124151-76124152	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368826511	chr13:76124153-76124154	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs57667166	chr13:76124174-76124175	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs534987609	chr13:76124195-76124196	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs188725910	chr13:76124244-76124245	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs574920382	chr13:76124248-76124249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs542518179	chr13:76124260-76124261	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs563867101	chr13:76124265-76124266	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs189993642	chr13:76124272-76124273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs201375589	chr13:76124321-76124322	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs564180996	chr13:76124338-76124339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs528189684	chr13:76124349-76124350	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs530280387	chr13:76124363-76124364	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs546326672	chr13:76124367-76124368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs373838223	chr13:76124373-76124374	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs528905567	chr13:76124387-76124388	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs550840076	chr13:76124390-76124391	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs569064701	chr13:76124408-76124409	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs548707578	chr13:76124414-76124415	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs182533712	chr13:76124436-76124437	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs570889086	chr13:76124490-76124491	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565314362	chr13:76124496-76124497	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs535105760	chr13:76124511-76124512	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Intracranial aneurysm	16715129	CNVD
Non-small cell lung cancer	19010865	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1981 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76122800-76123800	Flanking Active TSS	Osteobl	bone
2	chr13:76122800-76124800	Active TSS	Brain Anterior Caudate	brain
3	chr13:76122800-76124800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:76122800-76124800	Active TSS	A549	lung
5	chr13:76123000-76124400	Active TSS	Brain Cingulate Gyrus	brain
6	chr13:76123000-76124400	Active TSS	Brain Substantia Nigra	brain
7	chr13:76123000-76124400	Active TSS	Fetal Muscle Leg	muscle
8	chr13:76123000-76124600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:76123000-76124600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:76123000-76124600	Active TSS	Colonic Mucosa	Colon
11	chr13:76123000-76124600	Active TSS	Rectal Smooth Muscle	rectum
12	chr13:76123000-76124800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr13:76123000-76124800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:76123000-76124800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:76123000-76124800	Active TSS	Lung	lung
16	chr13:76123000-76124800	Active TSS	Stomach Smooth Muscle	stomach
17	chr13:76123000-76125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:76123000-76125200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:76123000-76125600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr13:76123200-76124000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:76123200-76124200	Active TSS	Brain Germinal Matrix	brain
22	chr13:76123200-76124400	Active TSS	Brain Hippocampus Middle	brain
23	chr13:76123200-76124400	Active TSS	Colon Smooth Muscle	Colon
24	chr13:76123200-76124400	Active TSS	Duodenum Mucosa	Duodenum
25	chr13:76123200-76124400	Active TSS	Fetal Stomach	stomach
26	chr13:76123200-76124600	Active TSS	Psoas Muscle	Psoas
27	chr13:76123200-76124600	Active TSS	NH-A	brain
28	chr13:76123200-76124800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr13:76123200-76124800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:76123200-76124800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:76123200-76124800	Active TSS	Aorta	Aorta
32	chr13:76123200-76124800	Active TSS	Brain Angular Gyrus	brain
33	chr13:76123200-76124800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr13:76123200-76124800	Active TSS	Left Ventricle	heart
35	chr13:76123200-76124800	Active TSS	Ovary	ovary
36	chr13:76123200-76124800	Active TSS	Right Atrium	heart
37	chr13:76123200-76124800	Active TSS	Stomach Mucosa	stomach
38	chr13:76123200-76124800	Active TSS	HSMMtube	muscle
39	chr13:76123200-76125000	Active TSS	Fetal Intestine Small	intestine
40	chr13:76123200-76125000	Active TSS	Right Ventricle	heart
41	chr13:76123200-76125400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:76123400-76123800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr13:76123400-76123800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr13:76123400-76124000	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr13:76123400-76124000	Active TSS	HepG2	liver
46	chr13:76123400-76124200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:76123400-76124200	Active TSS	Primary T cells from cord blood	blood
48	chr13:76123400-76124200	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr13:76123400-76124200	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr13:76123400-76124200	Active TSS	Fetal Brain Female	brain

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