Variant report

Variant	esv3366910
Chromosome Location	chr5:79550846-79553244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:693)
CpG islands
(count:732)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:693 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:79551726-79551807	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:79552114-79552182	K562	blood:	n/a	n/a
3	ARID3A	chr5:79553008-79553834	K562	blood:	n/a	n/a
4	ATF1	chr5:79553093-79553671	K562	blood:	n/a	n/a
5	ATF2	chr5:79552906-79553855	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr5:79551946-79552734	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr5:79551904-79552204	GM12878	blood:	n/a	n/a
8	ATF2	chr5:79551981-79552452	GM12878	blood:	n/a	n/a
9	ATF2	chr5:79552844-79553986	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr5:79552928-79553657	K562	blood:	n/a	n/a
11	BACH1	chr5:79553147-79553612	K562	blood:	n/a	n/a
12	BACH1	chr5:79551330-79551779	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr5:79553009-79553857	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr5:79552033-79552371	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr5:79553198-79553551	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:79551932-79552272	GM12878	blood:	n/a	chr5:79551979-79551992 chr5:79551984-79551993 chr5:79552012-79552021 chr5:79551980-79551993
17	BCL3	chr5:79551974-79552340	A549	lung:	n/a	chr5:79551979-79551992 chr5:79551984-79551993 chr5:79552012-79552021 chr5:79551980-79551993
18	BCL3	chr5:79551537-79551913	A549	lung:	n/a	n/a
19	BCLAF1	chr5:79551946-79552491	GM12878	blood:	n/a	chr5:79551979-79551992 chr5:79551984-79551993 chr5:79552012-79552021 chr5:79551980-79551993
20	BCLAF1	chr5:79552888-79553760	K562	blood:	n/a	n/a
21	BCLAF1	chr5:79551943-79552346	GM12878	blood:	n/a	chr5:79551979-79551992 chr5:79551984-79551993 chr5:79552012-79552021 chr5:79551980-79551993
22	BHLHE40	chr5:79551199-79552525	GM12878	blood:	n/a	chr5:79552256-79552272 chr5:79551974-79551990
23	BHLHE40	chr5:79551282-79552599	K562	blood:	n/a	chr5:79552256-79552272 chr5:79551974-79551990
24	BHLHE40	chr5:79552956-79553713	K562	blood:	n/a	n/a
25	BHLHE40	chr5:79552956-79553528	GM12878	blood:	n/a	n/a
26	BHLHE40	chr5:79550990-79552295	HepG2	liver:	n/a	chr5:79552256-79552272 chr5:79551974-79551990
27	BRCA1	chr5:79551690-79552223	HepG2	liver:	n/a	n/a
28	CBX3	chr5:79552844-79553934	K562	blood:	n/a	n/a
29	CBX3	chr5:79552879-79553898	HCT-116	colon:	n/a	n/a
30	CBX3	chr5:79551609-79552255	K562	blood:	n/a	n/a
31	CBX3	chr5:79552920-79553650	K562	blood:	n/a	n/a
32	CCNT2	chr5:79550736-79552444	K562	blood:	n/a	n/a
33	CCNT2	chr5:79553124-79553619	K562	blood:	n/a	n/a
34	CEBPB	chr5:79551692-79552313	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr5:79553001-79553260	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:79552993-79553249	A549	lung:	n/a	n/a
37	CEBPB	chr5:79552881-79553773	K562	blood:	n/a	n/a
38	CEBPB	chr5:79552940-79553728	K562	blood:	n/a	n/a
39	CEBPB	chr5:79552120-79552319	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr5:79552986-79553868	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPD	chr5:79552961-79553707	K562	blood:	n/a	n/a
42	CEBPD	chr5:79551653-79552248	HepG2	liver:	n/a	n/a
43	CHD1	chr5:79551434-79552752	GM12878	blood:	n/a	chr5:79551775-79551785
44	CHD1	chr5:79550269-79551479	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr5:79553039-79553618	GM12878	blood:	n/a	n/a
46	CHD1	chr5:79551971-79554137	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr5:79551291-79551832	HepG2	liver:	n/a	chr5:79551775-79551785
48	CHD2	chr5:79553092-79553672	K562	blood:	n/a	n/a
49	CHD2	chr5:79553103-79553794	GM12878	blood:	n/a	n/a
50	CHD2	chr5:79551120-79552324	GM12878	blood:	n/a	chr5:79551775-79551785

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79551865-79551915	MCF10A-Er-Src	breast:	n/a
2	chr5:79552470-79552520	RPTEC	kidney:	n/a
3	chr5:79552470-79552520	Hepatocyte	liver:	n/a
4	chr5:79552470-79552520	HEEpiC	esophagus:	n/a
5	chr5:79551865-79551915	T-47D	breast:	n/a
6	chr5:79551238-79551288	GM06990	blood:	n/a
7	chr5:79551870-79551920	MCF10A-Er-Src	breast:	n/a
8	chr5:79552065-79552115	H1-hESC	embryonic stem cell:	embryo
9	chr5:79551238-79551288	NB4	blood:	n/a
10	chr5:79552065-79552115	PANC-1	pancreas:	n/a
11	chr5:79552137-79552187	K562	blood:	n/a
12	chr5:79551618-79551668	BJ	skin:	n/a
13	chr5:79551618-79551668	SKMC	muscle:	n/a
14	chr5:79552537-79552587	GM19239	blood:	n/a
15	chr5:79551865-79551915	NB4	blood:	n/a
16	chr5:79551870-79551920	HL-60	blood:	n/a
17	chr5:79551238-79551288	HRCEpiC	kidney:	n/a
18	chr5:79552177-79552227	LNCaP	prostate:	n/a
19	chr5:79552137-79552187	HUVEC	blood vessel:	n/a
20	chr5:79551865-79551915	AG09319	gingival:	n/a
21	chr5:79551865-79551915	AG10803	skin:	n/a
22	chr5:79552470-79552520	K562	blood:	n/a
23	chr5:79551904-79551954	AG09319	gingival:	n/a
24	chr5:79552137-79552187	MCF10A-Er-Src	breast:	n/a
25	chr5:79552537-79552587	SK-N-MC	brain:	n/a
26	chr5:79552470-79552520	SK-N-MC	brain:	n/a
27	chr5:79551618-79551668	IMR90	lung:	fetal
28	chr5:79551238-79551288	ovcar-3	ovarian:	n/a
29	chr5:79552470-79552520	HRCEpiC	kidney:	n/a
30	chr5:79552177-79552227	HRCEpiC	kidney:	n/a
31	chr5:79551618-79551668	U87	brain:	n/a
32	chr5:79552133-79552183	ECC-1	luminal epithelium:	n/a
33	chr5:79552177-79552227	AG09319	gingival:	n/a
34	chr5:79551618-79551668	ovcar-3	ovarian:	n/a
35	chr5:79552177-79552227	SKMC	muscle:	n/a
36	chr5:79551238-79551288	HCF	heart:	n/a
37	chr5:79552065-79552115	ProgFib	skin:	n/a
38	chr5:79551865-79551915	HNPCEpiC	eye:	n/a
39	chr5:79552177-79552227	Jurkat	blood:	n/a
40	chr5:79552537-79552587	HCT-116	colon:	n/a
41	chr5:79551238-79551288	GM12892	blood:	n/a
42	chr5:79551618-79551668	HEK293	kidney:	embryo
43	chr5:79552177-79552227	U87	brain:	n/a
44	chr5:79552137-79552187	RPTEC	kidney:	n/a
45	chr5:79552177-79552227	HL-60	blood:	n/a
46	chr5:79552137-79552187	HPAEpiC	pulmonary alveolar:	n/a
47	chr5:79551865-79551915	HEK293	kidney:	embryo
48	chr5:79552177-79552227	GM19239	blood:	n/a
49	chr5:79552470-79552520	CMK	blood:	n/a
50	chr5:79552065-79552115	LNCaP	prostate:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79422174..79424739-chr5:79552545..79555468,2	K562	blood:
2	chr5:79528152..79532318-chr5:79552098..79554720,3	MCF-7	breast:
3	chr5:79552447..79554549-chr5:79614442..79617096,2	K562	blood:
4	chr5:79471476..79473201-chr5:79552121..79553751,2	MCF-7	breast:
5	chr5:79423046..79425756-chr5:79550269..79553191,3	MCF-7	breast:
6	chr5:79551940..79553819-chr5:79583258..79585163,2	K562	blood:
7	chr1:94146452..94147094-chr5:79551449..79552398,2	Hela-S3	cervix:
8	chr5:79553026..79559305-chr5:79561133..79565052,9	K562	blood:
9	chr5:79533016..79538413-chr5:79547668..79554494,9	MCF-7	breast:
10	chr5:79463693..79466330-chr5:79552172..79554632,2	MCF-7	breast:
11	chr2:85133861..85134462-chr5:79552062..79552585,2	Hela-S3	cervix:
12	chr18:48494020..48494871-chr5:79551809..79552561,2	Hela-S3	cervix:
13	chr5:79463975..79466170-chr5:79552377..79554715,2	K562	blood:
14	chr5:79535394..79538837-chr5:79548301..79551920,3	K562	blood:
15	chr5:79552295..79553879-chr5:79601080..79603735,2	K562	blood:
16	chr12:49412361..49413149-chr5:79551650..79552467,2	Hela-S3	cervix:
17	chr5:79550504..79553635-chr5:79702210..79704282,3	K562	blood:
18	chr13:111566819..111567379-chr5:79552056..79552610,2	Hela-S3	cervix:
19	chr5:79488184..79489719-chr5:79552242..79554634,2	K562	blood:
20	chr5:79508706..79511076-chr5:79549297..79550935,2	K562	blood:
21	chr16:88717069..88717837-chr5:79551730..79552565,2	Hela-S3	cervix:
22	chr3:57541973..57542494-chr5:79552033..79552584,2	Hela-S3	cervix:
23	chr5:79551714..79553387-chr5:79600959..79603373,2	MCF-7	breast:
24	chr5:79529349..79531030-chr5:79552067..79554937,3	K562	blood:
25	chr5:79462247..79466170-chr5:79549724..79555274,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPZ1-2	chr5:79552919-79554203	NONHSAT102395

No data

Variant related genes	Relation type
SERINC5	TF binding region
SERINC5	CpG island
ENSG00000249438	chromatin interactions
ENSG00000164299	chromatin interactions
ENSG00000186854	chromatin interactions
ENSG00000051523	chromatin interactions
ENSG00000267699	chromatin interactions
ENSG00000141642	chromatin interactions
ENSG00000251828	chromatin interactions
ENSG00000251675	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000181929	chromatin interactions
ENSG00000174840	chromatin interactions
ENSG00000141646	chromatin interactions
ENSG00000039319	chromatin interactions
ENSG00000239159	chromatin interactions
ENSG00000088448	chromatin interactions
ENSG00000164300	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191862843	chr5:79550865-79550866	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs183732429	chr5:79550876-79550877	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs553892799	chr5:79550929-79550930	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs139147468	chr5:79550932-79550933	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs114263241	chr5:79550942-79550943	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs74888647	chr5:79550946-79550947	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs575810409	chr5:79550957-79550958	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs544564003	chr5:79550980-79550981	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs76727352	chr5:79551034-79551035	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs74897514	chr5:79551052-79551053	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs566893753	chr5:79551096-79551097	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs546631325	chr5:79551106-79551107	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs114358929	chr5:79551158-79551159	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs532425073	chr5:79551167-79551168	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs74670786	chr5:79551197-79551198	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs568940699	chr5:79551207-79551208	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs538071033	chr5:79551247-79551248	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs548181066	chr5:79551248-79551249	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs555839481	chr5:79551276-79551277	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs568402912	chr5:79551285-79551286	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs188357545	chr5:79551290-79551291	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs182280373	chr5:79551316-79551317	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs372686493	chr5:79551361-79551362	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs375504587	chr5:79551375-79551376	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs565040600	chr5:79551381-79551382	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs556259599	chr5:79551401-79551402	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs77386654	chr5:79551409-79551410	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs544838074	chr5:79551411-79551412	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs561237960	chr5:79551436-79551437	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs79319332	chr5:79551472-79551473	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs368896103	chr5:79551474-79551475	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs540530066	chr5:79551485-79551486	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs112346771	chr5:79551487-79551488	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs560090467	chr5:79551519-79551520	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs540306319	chr5:79551523-79551524	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs532557452	chr5:79551573-79551574	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs76823721	chr5:79551575-79551576	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs398093511	chr5:79551579-79551580	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs552365517	chr5:79551587-79551588	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs4704654	chr5:79551597-79551598	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs531395266	chr5:79551600-79551601	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs372848502	chr5:79551670-79551671	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs375595897	chr5:79551725-79551726	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs548322860	chr5:79551756-79551757	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs370117062	chr5:79551757-79551758	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs190084394	chr5:79551758-79551759	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs116372879	chr5:79551770-79551771	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs181698838	chr5:79551780-79551781	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs570446445	chr5:79551785-79551786	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs539447019	chr5:79551799-79551800	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	20967226	CNVD
Glioblastoma multiforme	21510904	CNVD

Chromatin state (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79547800-79551000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr5:79548400-79551000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr5:79548600-79551000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:79548600-79551200	Flanking Active TSS	Liver	Liver
5	chr5:79548600-79551200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr5:79548800-79551000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:79548800-79552600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:79549000-79553000	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:79549200-79553400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:79549200-79553400	Active TSS	Fetal Kidney	kidney
11	chr5:79549400-79552400	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr5:79549400-79553400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:79549600-79551000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:79549600-79551000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr5:79549600-79551000	Flanking Active TSS	Thymus	Thymus
16	chr5:79549600-79552400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr5:79549600-79553000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:79549800-79551000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:79549800-79551200	Flanking Active TSS	Dnd41	blood
20	chr5:79549800-79551400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr5:79549800-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:79549800-79552400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:79549800-79552600	Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:79549800-79552800	Active TSS	Esophagus	oesophagus
25	chr5:79549800-79552800	Active TSS	Fetal Intestine Large	intestine
26	chr5:79549800-79553000	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr5:79549800-79554600	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr5:79550000-79551000	Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:79550000-79551000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:79550000-79551000	Active TSS	Brain Germinal Matrix	brain
31	chr5:79550000-79551000	Flanking Active TSS	Fetal Heart	heart
32	chr5:79550000-79551000	Flanking Active TSS	Osteobl	bone
33	chr5:79550000-79551200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr5:79550000-79551200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr5:79550000-79551800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:79550000-79553000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:79550000-79553600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:79550000-79554200	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:79550200-79551000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:79550200-79551000	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr5:79550200-79551000	Flanking Active TSS	Fetal Stomach	stomach
42	chr5:79550200-79551000	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr5:79550200-79551000	Flanking Active TSS	NH-A	brain
44	chr5:79550200-79551200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:79550200-79551800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr5:79550200-79552200	Active TSS	Primary T cells fromperipheralblood	blood
47	chr5:79550200-79552400	Active TSS	Brain Cingulate Gyrus	brain
48	chr5:79550200-79552600	Active TSS	Ovary	ovary
49	chr5:79550200-79553000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:79550200-79553000	Active TSS	Colonic Mucosa	Colon

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