Variant report

Variant	nsv883198
Chromosome Location	chr5:177659075-177690539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1132)
CpG islands
(count:732)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:177662015-177662614	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr5:177663731-177664017	K562	blood:	n/a	n/a
3	BACH1	chr5:177660141-177660312	K562	blood:	n/a	n/a
4	BACH1	chr5:177659303-177660211	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr5:177658981-177659154	K562	blood:	n/a	n/a
6	BATF	chr5:177666372-177666910	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:177666388-177666934	GM12878	blood:	n/a	n/a
8	BHLHE40	chr5:177682382-177682671	K562	blood:	n/a	n/a
9	BHLHE40	chr5:177683800-177684182	K562	blood:	n/a	n/a
10	BHLHE40	chr5:177663448-177664079	K562	blood:	n/a	n/a
11	BHLHE40	chr5:177663708-177663985	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:177658902-177660468	K562	blood:	n/a	chr5:177659901-177659917
13	BHLHE40	chr5:177659237-177659880	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:177661787-177662611	K562	blood:	n/a	n/a
15	BHLHE40	chr5:177659243-177660128	HepG2	liver:	n/a	chr5:177659901-177659917
16	BRCA1	chr5:177676940-177677091	GM12878	blood:	n/a	n/a
17	BRCA1	chr5:177662132-177662544	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr5:177662057-177662301	HepG2	liver:	n/a	n/a
19	BRCA1	chr5:177659175-177659241	HepG2	liver:	n/a	n/a
20	BRCA1	chr5:177659209-177660020	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr5:177662109-177662420	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr5:177662236-177662384	GM12878	blood:	n/a	n/a
23	CBX3	chr5:177661893-177662621	K562	blood:	n/a	n/a
24	CBX3	chr5:177663620-177664042	K562	blood:	n/a	n/a
25	CBX3	chr5:177658924-177659313	K562	blood:	n/a	n/a
26	CCNT2	chr5:177658782-177659973	K562	blood:	n/a	chr5:177659893-177659902
27	CEBPB	chr5:177659541-177659738	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr5:177662096-177662356	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr5:177658050-177659845	Hela-S3	cervix:	n/a	chr5:177658233-177658246
30	CEBPB	chr5:177661957-177662529	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr5:177661559-177661804	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr5:177671750-177672040	IMR90	lung:	n/a	n/a
33	CEBPD	chr5:177659639-177660049	HepG2	liver:	n/a	n/a
34	CEBPD	chr5:177659331-177659604	HepG2	liver:	n/a	n/a
35	CHD1	chr5:177659337-177659712	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr5:177661992-177662532	IMR90	lung:	n/a	n/a
37	CHD1	chr5:177662597-177662607	GM12878	blood:	n/a	n/a
38	CHD1	chr5:177663666-177663840	GM12878	blood:	n/a	n/a
39	CHD1	chr5:177658630-177659365	GM12878	blood:	n/a	n/a
40	CHD1	chr5:177662016-177662348	GM12878	blood:	n/a	n/a
41	CHD1	chr5:177666152-177666352	GM12878	blood:	n/a	n/a
42	CHD2	chr5:177659324-177659853	HepG2	liver:	n/a	n/a
43	CHD2	chr5:177659070-177659402	K562	blood:	n/a	n/a
44	CHD2	chr5:177662075-177662517	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr5:177659116-177660350	GM12878	blood:	n/a	n/a
46	CHD2	chr5:177666102-177666131	HepG2	liver:	n/a	n/a
47	CHD2	chr5:177669516-177669582	HepG2	liver:	n/a	n/a
48	CHD2	chr5:177677134-177677138	HepG2	liver:	n/a	n/a
49	CHD2	chr5:177659624-177660086	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr5:177662096-177662347	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:177660509-177660559	MCF-7	breast:	n/a
2	chr5:177659383-177659433	HEK293	kidney:	embryo
3	chr5:177664663-177664713	HRPEpiC	eye:	n/a
4	chr5:177659919-177659969	T-47D	breast:	n/a
5	chr5:177660351-177660401	HEK293	kidney:	embryo
6	chr5:177664663-177664713	HRE	kidney:	n/a
7	chr5:177659585-177659635	GM12891	blood:	n/a
8	chr5:177659229-177659279	HRE	kidney:	n/a
9	chr5:177659585-177659635	PFSK-1	brain:	n/a
10	chr5:177659585-177659635	NB4	blood:	n/a
11	chr5:177659919-177659969	NHDF-neo	bronchial:	n/a
12	chr5:177659229-177659279	ovcar-3	ovarian:	n/a
13	chr5:177659585-177659635	Hela-S3	cervix:	n/a
14	chr5:177659229-177659279	U87	brain:	n/a
15	chr5:177659229-177659279	T-47D	breast:	n/a
16	chr5:177662552-177662602	U87	brain:	n/a
17	chr5:177664663-177664713	ovcar-3	ovarian:	n/a
18	chr5:177659229-177659279	HIPEpiC	eye:	n/a
19	chr5:177659926-177659976	SKMC	muscle:	n/a
20	chr5:177659585-177659635	SK-N-SH_RA	brain:	n/a
21	chr5:177660305-177660355	Jurkat	blood:	n/a
22	chr5:177659971-177660021	AG04450	lung:	fetal
23	chr5:177660509-177660559	Hela-S3	cervix:	n/a
24	chr5:177659919-177659969	HAEpiC	amniotic membrane:	n/a
25	chr5:177659383-177659433	IMR90	lung:	fetal
26	chr5:177659926-177659976	HRE	kidney:	n/a
27	chr5:177660305-177660355	RPTEC	kidney:	n/a
28	chr5:177660509-177660559	SK-N-SH_RA	brain:	n/a
29	chr5:177659926-177659976	MCF-7	breast:	n/a
30	chr5:177659919-177659969	BJ	skin:	n/a
31	chr5:177659585-177659635	HCF	heart:	n/a
32	chr5:177662552-177662602	LNCaP	prostate:	n/a
33	chr5:177662552-177662602	HepG2	liver:	n/a
34	chr5:177659383-177659433	HRCEpiC	kidney:	n/a
35	chr5:177659383-177659433	H1-hESC	embryonic stem cell:	embryo
36	chr5:177662552-177662602	BJ	skin:	n/a
37	chr5:177660509-177660559	HRE	kidney:	n/a
38	chr5:177660509-177660559	HEEpiC	esophagus:	n/a
39	chr5:177659585-177659635	GM06990	blood:	n/a
40	chr5:177660305-177660355	AG04450	lung:	fetal
41	chr5:177660509-177660559	LNCaP	prostate:	n/a
42	chr5:177659926-177659976	GM12892	blood:	n/a
43	chr5:177659585-177659635	HCM	heart:	n/a
44	chr5:177659229-177659279	K562	blood:	n/a
45	chr5:177662552-177662602	GM06990	blood:	n/a
46	chr5:177659926-177659976	MCF10A-Er-Src	breast:	n/a
47	chr5:177659926-177659976	SK-N-MC	brain:	n/a
48	chr5:177660509-177660559	H1-hESC	embryonic stem cell:	embryo
49	chr5:177664663-177664713	GM12892	blood:	n/a
50	chr5:177659229-177659279	ECC-1	luminal epithelium:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
2	chr5:177679941..177681664-chr5:178053497..178055098,2	K562	blood:
3	chr22:32057870..32058631-chr5:177659389..177660070,2	HCT-116	colon:
4	chr5:177661743..177662668-chr5:178266372..178266966,2	K562	blood:
5	chr5:177664686..177666446-chr5:177667061..177669063,2	MCF-7	breast:
6	chr5:177671586..177674457-chr5:177675153..177677148,2	MCF-7	breast:
7	chr5:177673184..177676409-chr5:177679568..177684017,5	K562	blood:
8	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
9	chr5:177664686..177666446-chr5:177667061..177669063,2	MCF-7	breast:
10	chr5:177675640..177677996-chr5:177730945..177733479,2	K562	blood:
11	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
12	chr5:177666154..177668382-chr5:177684774..177687012,2	MCF-7	breast:
13	chr5:177631652..177633817-chr5:177677988..177680794,2	K562	blood:
14	chr5:177676650..177677786-chr5:177737259..177738171,4	MCF-7	breast:
15	chr5:177682641..177685103-chr5:177687845..177689639,2	K562	blood:
16	chr5:177659880..177662371-chr5:178030366..178033143,2	K562	blood:
17	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
18	chr5:177543150..177544003-chr5:177676886..177677587,2	MCF-7	breast:
19	chr5:177669025..177670554-chr5:177680553..177683380,2	MCF-7	breast:
20	chr5:177662114..177662778-chr5:178017450..178018023,2	MCF-7	breast:
21	chr5:177661732..177662694-chr5:178017398..178018377,4	MCF-7	breast:
22	chr5:177671586..177674457-chr5:177675153..177677148,2	MCF-7	breast:
23	chr5:177661877..177662434-chr5:177700931..177701850,2	MCF-7	breast:
24	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
25	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:
26	chr5:177613072..177615957-chr5:177659065..177661764,2	MCF-7	breast:
27	chr5:177662161..177662775-chr5:177732667..177733658,2	MCF-7	breast:
28	chr5:177665861..177669287-chr5:177672890..177677511,4	MCF-7	breast:
29	chr5:177667122..177671581-chr5:177672725..177675759,6	K562	blood:
30	chr5:177687306..177690029-chr5:177710452..177712944,2	MCF-7	breast:
31	chr5:177659189..177660088-chr5:178017540..178018315,2	K562	blood:
32	chr5:177669025..177670554-chr5:177680553..177683380,2	MCF-7	breast:
33	chr5:177663150..177665160-chr5:178157825..178159335,2	MCF-7	breast:
34	chr5:177674781..177677713-chr5:177688724..177690382,2	MCF-7	breast:
35	chr5:177663359..177666352-chr5:177692543..177695366,2	K562	blood:
36	chr5:177688646..177691134-chr5:177692615..177694812,2	MCF-7	breast:
37	chr5:177659087..177660769-chr5:178052015..178054177,2	K562	blood:
38	chr5:177664512..177669563-chr5:177672713..177676620,5	K562	blood:
39	chr5:177673184..177676409-chr5:177679568..177684017,5	K562	blood:
40	chr5:177682472..177686138-chr5:177686968..177690671,4	K562	blood:
41	chr5:177680211..177682699-chr5:177684964..177686597,2	K562	blood:
42	chr5:177665861..177669287-chr5:177672890..177677511,4	MCF-7	breast:
43	chr5:177662961..177665111-chr5:178052520..178054523,2	MCF-7	breast:
44	chr5:177663620..177664167-chr5:177676965..177677513,2	MCF-7	breast:
45	chr5:177658397..177661582-chr5:177665181..177668920,4	MCF-7	breast:
46	chr5:177663620..177664167-chr5:177676965..177677513,2	MCF-7	breast:
47	chr5:177667122..177671581-chr5:177672725..177675759,6	K562	blood:
48	chr5:177657753..177659482-chr5:177688552..177690642,2	MCF-7	breast:
49	chr5:177666998..177669633-chr5:177705585..177707860,2	MCF-7	breast:
50	chr5:177661196..177662135-chr5:178266134..178266915,2	MCF-7	breast:

No data

Variant related genes	Relation type
PHYKPL	TF binding region
PHYKPL	CpG island
ENSG00000113240	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000050767	chromatin interactions
ENSG00000175309	chromatin interactions
ENSG00000244234	chromatin interactions
ENSG00000184840	chromatin interactions

Extended variants
information (count: 1510 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1510 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2913861	chr5:177659075-177659076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs534996256	chr5:177659140-177659141	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs368662430	chr5:177659172-177659173	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs563940279	chr5:177659265-177659266	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs576257357	chr5:177659295-177659296	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs543718136	chr5:177659299-177659300	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs3749808	chr5:177659325-177659326	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529098076	chr5:177659347-177659348	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs547617294	chr5:177659351-177659352	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs560530726	chr5:177659355-177659356	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs527801989	chr5:177659356-177659357	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs552518309	chr5:177659357-177659358	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs538001614	chr5:177659362-177659363	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs2913860	chr5:177659366-177659367	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538274469	chr5:177659370-177659371	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs550049785	chr5:177659374-177659375	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs575569308	chr5:177659410-177659411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs371906783	chr5:177659411-177659412	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs3749806	chr5:177659429-177659430	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535603645	chr5:177659439-177659440	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs183623891	chr5:177659459-177659460	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs202216488	chr5:177659461-177659462	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs138665724	chr5:177659463-177659464	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs188173752	chr5:177659473-177659474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs575013913	chr5:177659476-177659477	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs116735771	chr5:177659519-177659520	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs543490948	chr5:177659551-177659552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs373706203	chr5:177659553-177659554	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs561918410	chr5:177659602-177659603	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs573993898	chr5:177659604-177659605	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs140358085	chr5:177659624-177659625	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs2913859	chr5:177659631-177659632	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533183068	chr5:177659644-177659645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs552375772	chr5:177659768-177659769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs2913858	chr5:177659778-177659779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531592228	chr5:177659790-177659791	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs577186457	chr5:177659824-177659825	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs549764933	chr5:177659825-177659826	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs13436469	chr5:177659829-177659830	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs568370972	chr5:177659841-177659842	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs529558826	chr5:177659849-177659850	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs547556115	chr5:177659854-177659855	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs566119005	chr5:177659861-177659862	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs538793765	chr5:177659883-177659884	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs371236909	chr5:177659889-177659890	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs540057900	chr5:177659906-177659907	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs531933040	chr5:177659908-177659909	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs557565936	chr5:177659927-177659928	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs550445220	chr5:177659953-177659954	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs150386385	chr5:177659971-177659972	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177657400-177659200	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr5:177657400-177659200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr5:177657600-177659400	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr5:177657800-177659200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
5	chr5:177657800-177659200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:177658000-177659200	Flanking Active TSS	Fetal Brain Male	brain
7	chr5:177658000-177659200	Flanking Active TSS	HUVEC	blood vessel
8	chr5:177658000-177659200	Flanking Active TSS	NH-A	brain
9	chr5:177658000-177659400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:177658200-177659200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:177658200-177659200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr5:177658200-177659200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:177658200-177659200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:177658200-177659200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:177658200-177659200	Flanking Active TSS	Colonic Mucosa	Colon
16	chr5:177658200-177659200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
17	chr5:177658200-177659800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:177658200-177660000	Flanking Active TSS	HMEC	breast
19	chr5:177658400-177659200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:177658400-177659200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr5:177658400-177659200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr5:177658400-177659200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:177658400-177659200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:177658400-177659200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:177658400-177659200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr5:177658400-177659200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr5:177658400-177659200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:177658400-177659400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:177658400-177659400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr5:177658400-177660200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:177658400-177660400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr5:177658600-177659200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr5:177658600-177659200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:177658600-177659200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:177658600-177659200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr5:177658600-177659200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr5:177658600-177659200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr5:177658600-177659200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:177658600-177659200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:177658600-177659200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr5:177658600-177659200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr5:177658600-177659200	Flanking Active TSS	Placenta	Placenta
43	chr5:177658600-177659200	Flanking Active TSS	Fetal Thymus	thymus
44	chr5:177658600-177659200	Flanking Active TSS	NHEK	skin
45	chr5:177658600-177659800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr5:177658600-177660000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:177658600-177660000	Active TSS	GM12878-XiMat	blood
48	chr5:177658600-177660200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr5:177658600-177660200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:177658600-177660200	Active TSS	HSMM	muscle

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