Variant report

Variant	esv3405878
Chromosome Location	chr5:98263077-98265925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:98264508-98264681	K562	blood:	n/a	n/a
2	ARID3A	chr5:98264908-98265939	K562	blood:	n/a	n/a
3	ARID3A	chr5:98264539-98266038	HepG2	liver:	n/a	n/a
4	ATF1	chr5:98264410-98265650	K562	blood:	n/a	chr5:98264661-98264675
5	ATF2	chr5:98262812-98263803	GM12878	blood:	n/a	chr5:98262913-98262920
6	ATF2	chr5:98264751-98265755	GM12878	blood:	n/a	n/a
7	ATF2	chr5:98264566-98264936	H1-hESC	embryonic stem cell:	n/a	chr5:98264661-98264675
8	ATF2	chr5:98264198-98265765	GM12878	blood:	n/a	chr5:98264661-98264675
9	ATF3	chr5:98264757-98264991	K562	blood:	n/a	chr5:98264815-98264824
10	ATF3	chr5:98264740-98265103	A549	lung:	n/a	chr5:98264815-98264824
11	ATF3	chr5:98265063-98265645	K562	blood:	n/a	n/a
12	BACH1	chr5:98264418-98264580	K562	blood:	n/a	n/a
13	BACH1	chr5:98264397-98265295	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr5:98265083-98265535	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:98265087-98265512	GM12878	blood:	n/a	chr5:98265227-98265240
16	BCL11A	chr5:98265136-98265540	GM12878	blood:	n/a	chr5:98265227-98265240
17	BCL3	chr5:98264206-98264740	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
18	BCL3	chr5:98264764-98265777	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
19	BCL3	chr5:98264737-98265602	A549	lung:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
20	BCL3	chr5:98264165-98264714	A549	lung:	n/a	chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408
21	BCL3	chr5:98264142-98265493	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264224-98264233 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
22	BCLAF1	chr5:98264435-98265694	K562	blood:	n/a	chr5:98264816-98264825 chr5:98265227-98265240 chr5:98264814-98264827
23	BCLAF1	chr5:98264244-98265731	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
24	BCLAF1	chr5:98263979-98265726	GM12878	blood:	n/a	chr5:98264816-98264825 chr5:98264256-98264265 chr5:98264044-98264057 chr5:98264224-98264233 chr5:98264399-98264408 chr5:98265227-98265240 chr5:98264814-98264827
25	BCLAF1	chr5:98262785-98263739	GM12878	blood:	n/a	n/a
26	BCLAF1	chr5:98262860-98263852	GM12878	blood:	n/a	n/a
27	BHLHE40	chr5:98264474-98265589	HepG2	liver:	n/a	chr5:98265224-98265240 chr5:98265486-98265502
28	BHLHE40	chr5:98262909-98265624	K562	blood:	n/a	chr5:98265224-98265240 chr5:98265486-98265502
29	BHLHE40	chr5:98263472-98265737	GM12878	blood:	n/a	chr5:98265224-98265240 chr5:98265486-98265502
30	BHLHE40	chr5:98263788-98264127	HepG2	liver:	n/a	n/a
31	BRCA1	chr5:98263521-98263567	GM12878	blood:	n/a	n/a
32	BRCA1	chr5:98264497-98265617	HepG2	liver:	n/a	n/a
33	BRCA1	chr5:98264616-98265617	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr5:98264515-98264618	GM12878	blood:	n/a	n/a
35	BRCA1	chr5:98264821-98264875	H1-hESC	embryonic stem cell:	n/a	n/a
36	CBX3	chr5:98264452-98265658	K562	blood:	n/a	n/a
37	CBX3	chr5:98265097-98265548	K562	blood:	n/a	n/a
38	CCNT2	chr5:98263679-98265579	K562	blood:	n/a	chr5:98264365-98264374 chr5:98263882-98263891 chr5:98264554-98264574 chr5:98265092-98265101
39	CCNT2	chr5:98262973-98263386	K562	blood:	n/a	n/a
40	CEBPB	chr5:98265135-98265349	HepG2	liver:	n/a	n/a
41	CEBPB	chr5:98264423-98265738	Hela-S3	cervix:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
42	CEBPB	chr5:98264795-98265534	H1-hESC	embryonic stem cell:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
43	CEBPB	chr5:98264745-98265534	MCF-7	breast:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
44	CEBPB	chr5:98264773-98265566	MCF-7	breast:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
45	CEBPB	chr5:98264506-98265682	K562	blood:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
46	CEBPB	chr5:98264829-98265130	HepG2	liver:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
47	CEBPB	chr5:98264795-98265607	GM12878	blood:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
48	CEBPB	chr5:98264316-98265766	HCT-116	colon:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
49	CEBPB	chr5:98264516-98265593	A549	lung:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052
50	CEBPB	chr5:98264348-98265638	IMR90	lung:	n/a	chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052 chr5:98265043-98265052

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:98263417-98263467	BJ	skin:	n/a
2	chr5:98264478-98264528	HIPEpiC	eye:	n/a
3	chr5:98263747-98263797	HAEpiC	amniotic membrane:	n/a
4	chr5:98263747-98263797	GM12891	blood:	n/a
5	chr5:98264283-98264333	ECC-1	luminal epithelium:	n/a
6	chr5:98265241-98265291	AG09319	gingival:	n/a
7	chr5:98263417-98263467	SAEC	small airway:	n/a
8	chr5:98265264-98265314	HEEpiC	esophagus:	n/a
9	chr5:98265241-98265291	HNPCEpiC	eye:	n/a
10	chr5:98264478-98264528	RPTEC	kidney:	n/a
11	chr5:98265241-98265291	LNCaP	prostate:	n/a
12	chr5:98265241-98265291	HRCEpiC	kidney:	n/a
13	chr5:98263747-98263797	BJ	skin:	n/a
14	chr5:98264478-98264528	HRE	kidney:	n/a
15	chr5:98263417-98263467	AoSMC	blood vessel:	n/a
16	chr5:98264283-98264333	NHDF-neo	bronchial:	n/a
17	chr5:98263747-98263797	SK-N-SH	brain:	n/a
18	chr5:98265530-98265580	HCT-116	colon:	n/a
19	chr5:98263747-98263797	HNPCEpiC	eye:	n/a
20	chr5:98263417-98263467	HAEpiC	amniotic membrane:	n/a
21	chr5:98265241-98265291	PANC-1	pancreas:	n/a
22	chr5:98263417-98263467	SK-N-SH_RA	brain:	n/a
23	chr5:98264283-98264333	AoSMC	blood vessel:	n/a
24	chr5:98264478-98264528	SK-N-SH_RA	brain:	n/a
25	chr5:98264478-98264528	HRPEpiC	eye:	n/a
26	chr5:98264478-98264528	AoSMC	blood vessel:	n/a
27	chr5:98264478-98264528	HL-60	blood:	n/a
28	chr5:98264283-98264333	HNPCEpiC	eye:	n/a
29	chr5:98265264-98265314	MCF10A-Er-Src	breast:	n/a
30	chr5:98264478-98264528	AG04449	skin:	fetal
31	chr5:98265241-98265291	HMEC	breast:	n/a
32	chr5:98265530-98265580	HCM	heart:	n/a
33	chr5:98263747-98263797	HL-60	blood:	n/a
34	chr5:98265264-98265314	PANC-1	pancreas:	n/a
35	chr5:98263417-98263467	Jurkat	blood:	n/a
36	chr5:98264283-98264333	GM19239	blood:	n/a
37	chr5:98265530-98265580	ovcar-3	ovarian:	n/a
38	chr5:98265241-98265291	H1-hESC	embryonic stem cell:	embryo
39	chr5:98265530-98265580	NT2-D1	testis:	n/a
40	chr5:98264478-98264528	HEK293	kidney:	embryo
41	chr5:98265241-98265291	Caco-2	colon:	n/a
42	chr5:98265530-98265580	SAEC	small airway:	n/a
43	chr5:98265241-98265291	ProgFib	skin:	n/a
44	chr5:98263747-98263797	PrEC	prostate:	n/a
45	chr5:98265264-98265314	AG04449	skin:	fetal
46	chr5:98264283-98264333	MCF-7	breast:	n/a
47	chr5:98263747-98263797	HEK293	kidney:	embryo
48	chr5:98265264-98265314	HEK293	kidney:	embryo
49	chr5:98263417-98263467	AG09309	skin:	n/a
50	chr5:98265241-98265291	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:98265097..98266791-chr5:98309384..98311683,2	K562	blood:
2	chr5:98264586..98265128-chr6:109416336..109416882,2	Hela-S3	cervix:
3	chr5:98220770..98224200-chr5:98262773..98266161,4	K562	blood:
4	chr5:90674940..90679357-chr5:98262514..98267275,7	K562	blood:
5	chr5:90677652..90679304-chr5:98264702..98267275,2	K562	blood:
6	chr5:98204205..98207501-chr5:98263457..98266267,3	MCF-7	breast:
7	chr5:98264846..98265427-chr6:26056184..26056952,2	Hela-S3	cervix:
8	chr5:98261995..98270397-chr5:98280624..98292060,15	K562	blood:
9	chr15:83478349..83478996-chr5:98264221..98265198,2	Hela-S3	cervix:
10	chr5:96142600..96144164-chr5:98264927..98267832,2	K562	blood:
11	chr5:98262437..98267686-chr5:98287585..98292205,9	K562	blood:
12	chr5:98265288..98267597-chr5:98314726..98317352,2	K562	blood:
13	chr3:48487968..48488563-chr5:98263988..98264982,2	Hela-S3	cervix:
14	chr17:46985561..46986168-chr5:98264688..98265508,2	Hela-S3	cervix:
15	chr5:98264671..98265572-chrX:153236815..153237803,2	Hela-S3	cervix:
16	chr15:66161572..66162153-chr5:98264617..98265384,2	Hela-S3	cervix:
17	chr2:101178932..101179770-chr5:98264779..98265361,2	Hela-S3	cervix:
18	chr5:98265027..98268409-chr5:98365166..98367986,4	K562	blood:
19	chr5:98237133..98240076-chr5:98262664..98264455,2	K562	blood:
20	chr5:98264226..98265182-chr7:66093354..66094059,2	Hela-S3	cervix:
21	chr15:65596967..65597783-chr5:98264735..98265685,3	Hela-S3	cervix:
22	chr5:98263162..98264704-chr5:98365544..98368385,2	K562	blood:
23	chr5:98263971..98264737-chr7:120590626..120591131,2	Hela-S3	cervix:
24	chr13:107219962..107220504-chr5:98264951..98265593,2	Hela-S3	cervix:
25	chr19:12845070..12845760-chr5:98264143..98265041,2	Hela-S3	cervix:
26	chr5:90674940..90677586-chr5:98263946..98266440,2	K562	blood:
27	chr10:88853918..88854648-chr5:98264535..98265304,3	Hela-S3	cervix:
28	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:
29	chr12:46120952..46121817-chr5:98263968..98264550,2	HCT-116	colon:
30	chr2:24306551..24307331-chr5:98264376..98265283,2	Hela-S3	cervix:
31	chr5:98264902..98266916-chr5:98381565..98384690,3	K562	blood:
32	chr5:98220809..98224769-chr5:98261722..98266325,5	K562	blood:
33	chr3:49157716..49158699-chr5:98264536..98265045,2	HCT-116	colon:
34	chr5:98262538..98264376-chr5:98385068..98386574,2	K562	blood:
35	chr5:43483467..43484074-chr5:98264949..98265508,2	Hela-S3	cervix:
36	chr1:154946397..154946999-chr5:98264263..98264810,2	Hela-S3	cervix:
37	chr14:81687040..81687872-chr5:98262679..98263179,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-1	chr5:98265815-98265924	NONHSAT102972
2	lnc-RGMB-1	chr5:98264861-98270036	NONHSAT102968
3	lnc-RGMB-1	chr5:98264884-98265015	NONHSAT102970
4	lnc-RGMB-1	chr5:98264838-98266713	NONHSAT102967
5	lnc-RGMB-1	chr5:98264875-98265015	ENSG00000248489.1
6	lnc-RGMB-1	chr5:98265713-98265745	NONHSAT102972
7	lnc-RGMB-1	chr5:98265801-98266772	NONHSAT102970
8	lnc-RGMB-1	chr5:98264925-98265427	NONHSAT102971

Variant related genes	Relation type
ENSG00000248489	TF binding region
CHD1	TF binding region
ENSG00000248489	CpG island
CHD1	CpG island
ENSG00000122376	chromatin interactions
ENSG00000115129	chromatin interactions
ENSG00000172534	chromatin interactions
ENSG00000172046	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000164307	chromatin interactions
ENSG00000177854	chromatin interactions
ENSG00000148672	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000243335	chromatin interactions
ENSG00000183137	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000273015	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000241597	chromatin interactions
ENSG00000134884	chromatin interactions
ENSG00000123144	chromatin interactions
ENSG00000071243	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000115539	chromatin interactions
ENSG00000103769	chromatin interactions
ENSG00000153922	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000200351	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145647832	chr5:98263113-98263114	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs186176504	chr5:98263141-98263142	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs571250516	chr5:98263180-98263181	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs34978731	chr5:98263195-98263196	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs138130238	chr5:98263216-98263217	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs149649024	chr5:98263231-98263232	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs143388045	chr5:98263299-98263300	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs58824271	chr5:98263314-98263315	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs148362349	chr5:98263329-98263330	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs73155405	chr5:98263333-98263334	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573355958	chr5:98263341-98263342	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs181411073	chr5:98263346-98263347	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs540757008	chr5:98263358-98263359	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs559118188	chr5:98263365-98263366	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs142630173	chr5:98263430-98263431	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs577137342	chr5:98263432-98263433	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs542404797	chr5:98263442-98263443	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs368340463	chr5:98263531-98263532	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs62367700	chr5:98263569-98263570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186174930	chr5:98263603-98263604	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs161743	chr5:98263605-98263606	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543632960	chr5:98263610-98263611	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs560784898	chr5:98263612-98263613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs563841253	chr5:98263670-98263671	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs7724992	chr5:98263686-98263687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546253387	chr5:98263718-98263719	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs571263575	chr5:98263726-98263727	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs72775632	chr5:98263738-98263739	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs542506089	chr5:98263755-98263756	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs370837498	chr5:98263768-98263769	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs569521312	chr5:98263788-98263789	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs536977286	chr5:98263870-98263871	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs111979733	chr5:98263882-98263883	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs529397741	chr5:98263892-98263893	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs555177445	chr5:98263899-98263900	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs567040386	chr5:98263917-98263918	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs373617513	chr5:98263966-98263967	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs534410123	chr5:98263977-98263978	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs6873448	chr5:98263995-98263996	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs577272122	chr5:98264029-98264030	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs544593299	chr5:98264045-98264046	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs552986249	chr5:98264096-98264097	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs117931273	chr5:98264103-98264104	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs575479712	chr5:98264293-98264294	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs325222	chr5:98264296-98264297	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs560872009	chr5:98264314-98264315	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs528229404	chr5:98264335-98264336	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs540040936	chr5:98264351-98264352	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs564989431	chr5:98264375-98264376	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs532147859	chr5:98264394-98264395	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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	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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	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
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	20837533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98236400-98263200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:98240200-98263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:98260000-98263600	Weak transcription	Spleen	Spleen
4	chr5:98261200-98266000	Active TSS	Thymus	Thymus
5	chr5:98261600-98265800	Active TSS	GM12878-XiMat	blood
6	chr5:98261600-98266200	Active TSS	Fetal Thymus	thymus
7	chr5:98261800-98266200	Active TSS	K562	blood
8	chr5:98262000-98263200	Flanking Active TSS	Dnd41	blood
9	chr5:98262000-98266000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:98262000-98266000	Active TSS	A549	lung
11	chr5:98262200-98263200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:98262200-98263200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr5:98262200-98263200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:98262200-98263600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:98262200-98263800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr5:98262200-98263800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:98262200-98265600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:98262200-98265800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:98262200-98265800	Active TSS	HMEC	breast
20	chr5:98262200-98266000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:98262400-98263400	Flanking Active TSS	HUVEC	blood vessel
22	chr5:98262400-98263600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:98262400-98263600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:98262400-98264600	Active TSS	Right Atrium	heart
25	chr5:98262400-98265800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:98262400-98266000	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:98262400-98266000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr5:98262400-98266000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:98262400-98266000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:98262400-98266200	Active TSS	Right Ventricle	heart
31	chr5:98262600-98263200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr5:98262600-98263400	Flanking Active TSS	Fetal Brain Female	brain
33	chr5:98262600-98263400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr5:98262600-98263400	Flanking Active TSS	Osteobl	bone
35	chr5:98262600-98263600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr5:98262600-98263800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr5:98262600-98263800	Flanking Active TSS	Liver	Liver
38	chr5:98262600-98265000	Active TSS	Brain Germinal Matrix	brain
39	chr5:98262600-98265600	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr5:98262600-98265800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:98262600-98265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:98262600-98265800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:98262600-98265800	Active TSS	Fetal Intestine Small	intestine
44	chr5:98262600-98266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:98262600-98266000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr5:98262600-98266000	Active TSS	Colon Smooth Muscle	Colon
47	chr5:98262600-98266000	Active TSS	Fetal Intestine Large	intestine
48	chr5:98262600-98266000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:98262600-98266000	Active TSS	HSMM	muscle
50	chr5:98262600-98266200	Active TSS	HUES6 Cell Line	embryonic stem cell

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