Variant report

Variant	nsv442948
Chromosome Location	chr5:52404519-52409439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:453)
CpG islands
(count:915)
Chromatin interactive
region (count:10)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:52405448-52405895	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:52406351-52406362	K562	blood:	n/a	n/a
3	ARID3A	chr5:52408729-52409135	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:52405155-52405341	K562	blood:	n/a	n/a
5	BACH1	chr5:52405520-52405832	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr5:52405189-52405768	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:52405405-52405919	K562	blood:	n/a	chr5:52405645-52405661
8	BHLHE40	chr5:52405206-52405924	GM12878	blood:	n/a	chr5:52405645-52405661
9	BRCA1	chr5:52405412-52405935	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr5:52405255-52405257	GM12878	blood:	n/a	n/a
11	CBX3	chr5:52405410-52405950	K562	blood:	n/a	n/a
12	CBX3	chr5:52408045-52408607	K562	blood:	n/a	n/a
13	CCNT2	chr5:52405018-52405880	K562	blood:	n/a	n/a
14	CEBPB	chr5:52404749-52405118	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
15	CEBPB	chr5:52404767-52405216	Hela-S3	cervix:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
16	CEBPB	chr5:52404789-52405217	MCF-7	breast:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
17	CEBPB	chr5:52404850-52405131	ECC-1	luminal epithelium:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
18	CEBPB	chr5:52408881-52409047	HepG2	liver:	n/a	n/a
19	CEBPB	chr5:52404722-52405190	A549	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
20	CEBPB	chr5:52404866-52405110	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
21	CEBPB	chr5:52404798-52405125	A549	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
22	CEBPB	chr5:52408778-52409139	HepG2	liver:	n/a	n/a
23	CEBPB	chr5:52404795-52405145	HepG2	liver:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
24	CEBPB	chr5:52404817-52405112	IMR90	lung:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
25	CEBPB	chr5:52404786-52405176	K562	blood:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
26	CEBPB	chr5:52404820-52405097	HepG2	liver:	n/a	chr5:52404947-52404960 chr5:52404948-52404959
27	CEBPB	chr5:52405436-52405910	Hela-S3	cervix:	n/a	n/a
28	CEBPD	chr5:52405329-52405953	HepG2	liver:	n/a	n/a
29	CEBPD	chr5:52405448-52405804	HepG2	liver:	n/a	n/a
30	CEBPZ	chr5:52404960-52405125	HepG2	liver:	n/a	n/a
31	CEBPZ	chr5:52409100-52409289	HepG2	liver:	n/a	n/a
32	CHD1	chr5:52405629-52405831	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr5:52405708-52405886	GM12878	blood:	n/a	n/a
34	CHD2	chr5:52405007-52405901	Hela-S3	cervix:	n/a	chr5:52405594-52405601
35	CHD2	chr5:52405029-52405922	GM12878	blood:	n/a	chr5:52405594-52405601
36	CHD2	chr5:52405304-52405702	HepG2	liver:	n/a	chr5:52405594-52405601
37	CHD2	chr5:52405512-52405891	H1-hESC	embryonic stem cell:	n/a	chr5:52405594-52405601
38	CHD2	chr5:52405453-52405634	K562	blood:	n/a	chr5:52405594-52405601
39	CREB1	chr5:52405358-52405824	A549	lung:	n/a	n/a
40	CTCF	chr5:52405400-52405550	GM06990	blood:	n/a	n/a
41	CTCF	chr5:52405442-52405611	MCF-7	breast:	n/a	n/a
42	CTCF	chr5:52405508-52405540	NHEK	skin:	n/a	n/a
43	CTCF	chr5:52405660-52405810	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr5:52405420-52405570	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr5:52405376-52405891	K562	blood:	n/a	chr5:52405647-52405660
46	CTCF	chr5:52405540-52405690	AG04449	skin:	n/a	chr5:52405647-52405660
47	CTCF	chr5:52405520-52405670	Caco-2	colon:	n/a	chr5:52405647-52405660
48	CTCF	chr5:52405493-52405637	Fibrobl	skin:	n/a	n/a
49	CTCF	chr5:52405452-52405577	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:52405519-52405571	GM12891	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:52405638-52405688	Hela-S3	cervix:	n/a
2	chr5:52405518-52405568	AG04450	lung:	fetal
3	chr5:52405361-52405411	HCM	heart:	n/a
4	chr5:52405108-52405158	U87	brain:	n/a
5	chr5:52405666-52405716	SKMC	muscle:	n/a
6	chr5:52405638-52405688	HRE	kidney:	n/a
7	chr5:52405675-52405725	AG10803	skin:	n/a
8	chr5:52405845-52405895	HEK293	kidney:	embryo
9	chr5:52405349-52405399	AG04449	skin:	fetal
10	chr5:52405494-52405544	AG09319	gingival:	n/a
11	chr5:52404911-52404961	PANC-1	pancreas:	n/a
12	chr5:52405108-52405158	GM12878	blood:	n/a
13	chr5:52405666-52405716	HMEC	breast:	n/a
14	chr5:52405349-52405399	HRE	kidney:	n/a
15	chr5:52405638-52405688	HAEpiC	amniotic membrane:	n/a
16	chr5:52405506-52405556	MCF-7	breast:	n/a
17	chr5:52405506-52405556	Hela-S3	cervix:	n/a
18	chr5:52405108-52405158	ProgFib	skin:	n/a
19	chr5:52405491-52405541	GM06990	blood:	n/a
20	chr5:52405349-52405399	HCF	heart:	n/a
21	chr5:52405518-52405568	HAEpiC	amniotic membrane:	n/a
22	chr5:52405108-52405158	NH-A	brain:	n/a
23	chr5:52405886-52405936	BE2_C	brain:	n/a
24	chr5:52405675-52405725	K562	blood:	n/a
25	chr5:52405638-52405688	SK-N-SH	brain:	n/a
26	chr5:52405518-52405568	AG10803	skin:	n/a
27	chr5:52405518-52405568	GM19239	blood:	n/a
28	chr5:52405675-52405725	HRE	kidney:	n/a
29	chr5:52405886-52405936	PrEC	prostate:	n/a
30	chr5:52405518-52405568	HIPEpiC	eye:	n/a
31	chr5:52405886-52405936	K562	blood:	n/a
32	chr5:52405491-52405541	Jurkat	blood:	n/a
33	chr5:52405108-52405158	K562	blood:	n/a
34	chr5:52405755-52405805	ProgFib	skin:	n/a
35	chr5:52405494-52405544	H1-hESC	embryonic stem cell:	embryo
36	chr5:52405845-52405895	MCF-7	breast:	n/a
37	chr5:52405491-52405541	NT2-D1	testis:	n/a
38	chr5:52405675-52405725	IMR90	lung:	fetal
39	chr5:52405491-52405541	HRE	kidney:	n/a
40	chr5:52405755-52405805	HMEC	breast:	n/a
41	chr5:52405696-52405746	H1-hESC	embryonic stem cell:	embryo
42	chr5:52405666-52405716	HRCEpiC	kidney:	n/a
43	chr5:52405349-52405399	HCPEpiC	choroid plexus:	n/a
44	chr5:52405696-52405746	GM06990	blood:	n/a
45	chr5:52405666-52405716	AG09319	gingival:	n/a
46	chr5:52404911-52404961	IMR90	lung:	fetal
47	chr5:52404911-52404961	GM06990	blood:	n/a
48	chr5:52405886-52405936	NHBE	bronchial:	n/a
49	chr5:52405108-52405158	ovcar-3	ovarian:	n/a
50	chr5:52405886-52405936	SK-N-SH	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52409322..52411665-chr5:52415980..52418205,2	K562	blood:
2	chr5:52405061..52405947-chr9:131445854..131446584,2	HCT-116	colon:
3	chr5:52405264..52406002-chr6:26204662..26205210,2	HCT-116	colon:
4	chr5:52408413..52410275-chr5:52416214..52418011,2	K562	blood:
5	chr5:52282064..52285632-chr5:52404082..52406997,3	MCF-7	breast:
6	chr17:58469116..58469940-chr5:52405166..52406062,2	MCF-7	breast:
7	chr5:52402569..52404827-chr5:52408114..52410359,2	K562	blood:
8	chr5:52385620..52387718-chr5:52408236..52410843,2	MCF-7	breast:
9	chr3:156391977..156392928-chr5:52404476..52405230,2	Hela-S3	cervix:
10	chr5:52384729..52387843-chr5:52404184..52407459,4	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA2-1	chr5:52408070-52408864	XLOC_004382
2	lnc-ITGA2-1	chr5:52408070-52409335	XLOC_004382
3	lnc-ITGA2-1	chr5:52408070-52408864	NR_034107
4	lnc-ITGA2-1	chr5:52406195-52406235	XLOC_004382
5	lnc-ITGA2-1	chr5:52405752-52405978	XLOC_004382
6	lnc-ITGA2-1	chr5:52408070-52408864	ENSG00000247796
7	lnc-ITGA2-1	chr5:52405799-52405978	NONHSAT101423
8	lnc-ITGA2-1	chr5:52405672-52405978	NR_104654
9	lnc-ITGA2-1	chr5:52408070-52410956	ENSG00000247796
10	lnc-ITGA2-1	chr5:52405672-52405978	NR_034107
11	lnc-ITGA2-1	chr5:52405672-52405978	ENSG00000247796
12	lnc-ITGA2-1	chr5:52405729-52405978	ENSG00000247796
13	lnc-ITGA2-1	chr5:52408070-52408396	XLOC_004382
14	lnc-ITGA2-1	chr5:52405687-52405978	XLOC_004382
15	lnc-ITGA2-1	chr5:52405707-52405978	XLOC_004382

No data

Variant related genes	Relation type
MOCS2	TF binding region
ENSG00000247796	TF binding region
MOCS2	CpG island
ENSG00000247796	CpG island
ENSG00000141371	chromatin interactions
ENSG00000170832	chromatin interactions
ENSG00000243926	chromatin interactions
ENSG00000272123	chromatin interactions
ENSG00000163659	chromatin interactions
ENSG00000119335	chromatin interactions
ENSG00000164171	chromatin interactions
ENSG00000164172	chromatin interactions
ENSG00000198518	chromatin interactions
C11orf61	miRNA target sites

Extended variants
information (count: 199 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528039247	chr5:52404519-52404520	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs546723789	chr5:52404546-52404547	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs568161701	chr5:52404577-52404578	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs368784671	chr5:52404631-52404632	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs535691354	chr5:52404636-52404637	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs556068225	chr5:52404648-52404649	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs550782823	chr5:52404740-52404741	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs574813998	chr5:52404743-52404744	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs78846816	chr5:52404753-52404754	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs148493804	chr5:52404754-52404755	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs142506063	chr5:52404771-52404772	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs573201313	chr5:52404776-52404777	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs562425209	chr5:52404842-52404843	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs544235804	chr5:52404861-52404862	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs533892482	chr5:52404923-52404924	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs553819585	chr5:52404927-52404928	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs573785724	chr5:52404949-52404950	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs544436914	chr5:52404988-52404989	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs562717427	chr5:52405003-52405004	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs377004127	chr5:52405082-52405083	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs545697783	chr5:52405116-52405117	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs77585010	chr5:52405174-52405175	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs560580920	chr5:52405191-52405192	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs545526771	chr5:52405201-52405202	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs181138610	chr5:52405224-52405225	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs561803127	chr5:52405226-52405227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs545585782	chr5:52405235-52405236	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs557882779	chr5:52405247-52405248	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs576049243	chr5:52405271-52405272	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs528975067	chr5:52405292-52405293	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs375625995	chr5:52405299-52405300	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs550668704	chr5:52405338-52405339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs142034379	chr5:52405349-52405350	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs551654721	chr5:52405354-52405355	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs142643273	chr5:52405377-52405378	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs13181977	chr5:52405390-52405391	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs80150769	chr5:52405397-52405398	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs375588153	chr5:52405402-52405403	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs62359375	chr5:52405432-52405433	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533971389	chr5:52405477-52405478	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs370829734	chr5:52405479-52405480	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs25782	chr5:52405481-52405482	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376559444	chr5:52405515-52405516	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs186593570	chr5:52405517-52405518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs190454850	chr5:52405518-52405519	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs578130076	chr5:52405526-52405527	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs373522800	chr5:52405533-52405534	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs545270303	chr5:52405536-52405537	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs554491390	chr5:52405541-52405542	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs121908607	chr5:52405544-52405545	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52370400-52404600	Weak transcription	Brain Germinal Matrix	brain
2	chr5:52378400-52405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:52387600-52405000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:52389400-52404800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:52392000-52404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:52392400-52404800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:52393000-52405000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:52393800-52404800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:52395400-52404800	Weak transcription	Aorta	Aorta
10	chr5:52395400-52405200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:52395600-52404600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:52395600-52404800	Weak transcription	Colonic Mucosa	Colon
13	chr5:52395600-52404800	Weak transcription	Esophagus	oesophagus
14	chr5:52395600-52404800	Weak transcription	Fetal Brain Male	brain
15	chr5:52395600-52404800	Weak transcription	Pancreas	Pancrea
16	chr5:52395600-52404800	Weak transcription	Right Ventricle	heart
17	chr5:52395600-52405000	Weak transcription	Gastric	stomach
18	chr5:52395600-52405400	Weak transcription	Spleen	Spleen
19	chr5:52395800-52404600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:52395800-52404600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:52395800-52404800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:52395800-52405000	Weak transcription	Lung	lung
23	chr5:52395800-52405200	Weak transcription	Small Intestine	intestine
24	chr5:52396200-52404800	Weak transcription	Brain Angular Gyrus	brain
25	chr5:52396200-52404800	Weak transcription	Ovary	ovary
26	chr5:52396400-52404600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:52396400-52404800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:52396600-52404800	Weak transcription	Brain Substantia Nigra	brain
29	chr5:52397400-52404600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:52397400-52404600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:52398000-52404600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:52398000-52404600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:52398000-52404800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:52399000-52404800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:52399600-52404800	Weak transcription	HSMMtube	muscle
36	chr5:52399600-52404800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:52399800-52404600	Weak transcription	Fetal Stomach	stomach
38	chr5:52400000-52404800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:52400000-52404800	Weak transcription	Fetal Intestine Small	intestine
40	chr5:52400200-52404600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:52400200-52404800	Weak transcription	Placenta	Placenta
42	chr5:52400400-52404600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:52400800-52404800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:52401000-52404800	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:52401200-52404600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr5:52401200-52404800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr5:52401800-52404800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:52402000-52404800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr5:52402400-52404800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr5:52402600-52404600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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