Variant report

Variant	nsv597885
Chromosome Location	chr5:42019110-42192620
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	chr5:42074423-42074897	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:42108527-42109495	HepG2	liver:	n/a	n/a
3	ATF2	chr5:42021889-42022441	GM12878	blood:	n/a	n/a
4	ATF2	chr5:42021932-42022393	GM12878	blood:	n/a	n/a
5	BACH1	chr5:42037569-42038065	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr5:42022041-42022338	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:42021998-42022324	GM12878	blood:	n/a	n/a
8	BRCA1	chr5:42109359-42109514	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr5:42149458-42149761	K562	blood:	n/a	n/a
10	CBX3	chr5:42149496-42149748	K562	blood:	n/a	n/a
11	CCNT2	chr5:42035889-42036029	K562	blood:	n/a	n/a
12	CEBPB	chr5:42146958-42147053	K562	blood:	n/a	chr5:42147025-42147038 chr5:42147027-42147038
13	CEBPB	chr5:42065595-42065744	H1-hESC	embryonic stem cell:	n/a	chr5:42065646-42065657
14	CEBPB	chr5:42065575-42065745	HepG2	liver:	n/a	chr5:42065646-42065657
15	CEBPB	chr5:42063248-42063513	IMR90	lung:	n/a	n/a
16	CEBPB	chr5:42108605-42109246	Hela-S3	cervix:	n/a	chr5:42109018-42109029
17	CEBPB	chr5:42076651-42076774	Hela-S3	cervix:	n/a	chr5:42076669-42076680
18	CEBPB	chr5:42073436-42073703	HepG2	liver:	n/a	n/a
19	CEBPB	chr5:42049998-42050125	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr5:42076484-42076847	HepG2	liver:	n/a	chr5:42076669-42076680
21	CEBPB	chr5:42146883-42147119	IMR90	lung:	n/a	chr5:42147025-42147038 chr5:42147027-42147038
22	CEBPB	chr5:42065561-42065755	K562	blood:	n/a	chr5:42065646-42065657
23	CEBPB	chr5:42076630-42076722	K562	blood:	n/a	chr5:42076669-42076680
24	CEBPB	chr5:42074366-42074840	HepG2	liver:	n/a	n/a
25	CEBPB	chr5:42076505-42076846	A549	lung:	n/a	chr5:42076669-42076680
26	CEBPZ	chr5:42107081-42107090	HepG2	liver:	n/a	n/a
27	CREB1	chr5:42021988-42022418	GM12878	blood:	n/a	n/a
28	CREB1	chr5:42021941-42022354	GM12878	blood:	n/a	n/a
29	CTCF	chr5:42057860-42058010	HVMF	connective:	n/a	n/a
30	CTCF	chr5:42057296-42057743	A549	lung:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
31	CTCF	chr5:42057460-42057610	AG04450	lung:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
32	CTCF	chr5:42057417-42057687	GM13977	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
33	CTCF	chr5:42057460-42057610	HBMEC	blood vessel:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
34	CTCF	chr5:42057420-42057570	GM12864	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
35	CTCF	chr5:42182840-42182990	HPF	lung:	n/a	n/a
36	CTCF	chr5:42057460-42057610	HPF	lung:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
37	CTCF	chr5:42057460-42057610	GM12869	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
38	CTCF	chr5:42033356-42033399	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:42057398-42057697	GM19239	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
40	CTCF	chr5:42057460-42057610	GM12875	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
41	CTCF	chr5:42057440-42057590	GM06990	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
42	CTCF	chr5:42057440-42057590	NHLF	lung:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
43	CTCF	chr5:42182922-42183030	MCF-7	breast:	n/a	n/a
44	CTCF	chr5:42057500-42057650	GM12878	blood:	n/a	chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
45	CTCF	chr5:42057460-42057610	AG10803	skin:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
46	CTCF	chr5:42057840-42057990	GM12873	blood:	n/a	n/a
47	CTCF	chr5:42057332-42057819	IMR90	lung:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
48	CTCF	chr5:42057460-42057610	GM12801	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
49	CTCF	chr5:42057300-42057450	A549	lung:	n/a	n/a
50	CTCF	chr5:42057402-42057692	GM19240	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:42175368-42175418	NHBE	bronchial:	n/a
2	chr5:42175368-42175418	NHBE	bronchial:	n/a
3	chr5:42176454-42176504	PFSK-1	brain:	n/a
4	chr5:42176454-42176504	NB4	blood:	n/a
5	chr5:42176454-42176504	BE2_C	brain:	n/a
6	chr5:42175438-42175488	RPTEC	kidney:	n/a
7	chr5:42175368-42175418	HEEpiC	esophagus:	n/a
8	chr5:42176806-42176856	AG09309	skin:	n/a
9	chr5:42176806-42176856	HepG2	liver:	n/a
10	chr5:42175438-42175488	AG04449	skin:	fetal
11	chr5:42176454-42176504	HAEpiC	amniotic membrane:	n/a
12	chr5:42175438-42175488	HCM	heart:	n/a
13	chr5:42175368-42175418	HCF	heart:	n/a
14	chr5:42175368-42175418	GM19239	blood:	n/a
15	chr5:42175438-42175488	NHDF-neo	bronchial:	n/a
16	chr5:42176806-42176856	NT2-D1	testis:	n/a
17	chr5:42176454-42176504	SK-N-SH	brain:	n/a
18	chr5:42175368-42175418	Hepatocyte	liver:	n/a
19	chr5:42176806-42176856	SKMC	muscle:	n/a
20	chr5:42175368-42175418	SKMC	muscle:	n/a
21	chr5:42176806-42176856	AG09319	gingival:	n/a
22	chr5:42175368-42175418	SK-N-MC	brain:	n/a
23	chr5:42175438-42175488	GM06990	blood:	n/a
24	chr5:42175438-42175488	HAEpiC	amniotic membrane:	n/a
25	chr5:42176806-42176856	PANC-1	pancreas:	n/a
26	chr5:42175438-42175488	HUVEC	blood vessel:	n/a
27	chr5:42175438-42175488	HCT-116	colon:	n/a
28	chr5:42175368-42175418	BE2_C	brain:	n/a
29	chr5:42175438-42175488	MCF10A-Er-Src	breast:	n/a
30	chr5:42175438-42175488	NB4	blood:	n/a
31	chr5:42176806-42176856	GM19239	blood:	n/a
32	chr5:42176806-42176856	HEEpiC	esophagus:	n/a
33	chr5:42175368-42175418	NH-A	brain:	n/a
34	chr5:42175368-42175418	A549	lung:	n/a
35	chr5:42176454-42176504	HCM	heart:	n/a
36	chr5:42176454-42176504	ProgFib	skin:	n/a
37	chr5:42176806-42176856	HCM	heart:	n/a
38	chr5:42176454-42176504	NH-A	brain:	n/a
39	chr5:42175368-42175418	ProgFib	skin:	n/a
40	chr5:42176806-42176856	HAEpiC	amniotic membrane:	n/a
41	chr5:42176454-42176504	IMR90	lung:	fetal
42	chr5:42176806-42176856	HEK293	kidney:	embryo
43	chr5:42175368-42175418	HepG2	liver:	n/a
44	chr5:42176806-42176856	GM12892	blood:	n/a
45	chr5:42175368-42175418	HIPEpiC	eye:	n/a
46	chr5:42175368-42175418	PFSK-1	brain:	n/a
47	chr5:42176806-42176856	T-47D	breast:	n/a
48	chr5:42176454-42176504	NHBE	bronchial:	n/a
49	chr5:42176806-42176856	ovcar-3	ovarian:	n/a
50	chr5:42175438-42175488	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:42058478..42060752-chr5:42063665..42066653,2	K562	blood:
2	chr5:42005538..42006287-chr5:42057068..42058036,3	MCF-7	breast:
3	chr5:42108690..42109427-chr5:42127456..42127968,2	MCF-7	breast:
4	chr5:42097992..42098898-chr8:102360247..102361219,2	MCF-7	breast:
5	chr5:42088817..42090333-chr5:42092349..42094008,2	K562	blood:
6	chr5:42051426..42053654-chr5:42055217..42057669,2	K562	blood:
7	chr5:42037141..42039596-chr5:42040271..42043042,2	MCF-7	breast:
8	chr5:42088817..42090333-chr5:42092349..42094008,2	K562	blood:
9	chr5:42122185..42124242-chr5:42127395..42129833,2	MCF-7	breast:
10	chr14:39638324..39641258-chr5:42070731..42072523,2	MCF-7	breast:
11	chr5:41924690..41926858-chr5:42021925..42024916,2	K562	blood:
12	chr5:41856094..41857973-chr5:42056939..42058102,22	K562	blood:
13	chr5:42182671..42183209-chr7:83415074..83415902,2	MCF-7	breast:
14	chr5:41902588..41905209-chr5:42048616..42051351,2	K562	blood:
15	chr5:42127815..42129414-chr5:42135015..42137366,2	K562	blood:
16	chr5:42057339..42057915-chr5:42889168..42890099,2	K562	blood:
17	chr5:42122185..42124242-chr5:42127395..42129833,2	MCF-7	breast:
18	chr5:42051426..42053654-chr5:42055217..42057669,2	K562	blood:
19	chr5:42037141..42039596-chr5:42040271..42043042,2	MCF-7	breast:
20	chr5:42164889..42166959-chr5:42173984..42175632,2	K562	blood:
21	chr5:42108690..42109427-chr5:42127456..42127968,2	MCF-7	breast:
22	chr5:41859110..41859726-chr5:42056831..42057996,3	K562	blood:
23	chr5:42010842..42015595-chr5:42016092..42019954,4	K562	blood:
24	chr5:41856847..41857569-chr5:42057071..42057972,2	MCF-7	breast:
25	chr5:42058478..42060752-chr5:42063665..42066653,2	K562	blood:
26	chr5:42127815..42129414-chr5:42135015..42137366,2	K562	blood:
27	chr5:41843846..41845908-chr5:42054612..42056725,2	K562	blood:
28	chr5:42164889..42166959-chr5:42173984..42175632,2	K562	blood:
29	chr13:108004543..108005043-chr5:42099053..42099670,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OXCT1-1	chr5:42168565-42168689	ENSG00000248519
2	lnc-OXCT1-2	chr5:42191692-42193270	ucscGeneNc_uc003jms_1
3	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
4	lnc-FBXO4-1	chr5:42153042-42153776	NONHSAT101190
5	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
6	lnc-FBXO4-1	chr5:42168564-42168689	NONHSAT101190
7	lnc-OXCT1-1	chr5:42155935-42157513	ENSG00000248519
8	lnc-OXCT1-1	chr5:42168565-42168678	XLOC_004800
9	lnc-OXCT1-1	chr5:42159439-42159548	NR_104636
10	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
11	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
12	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
13	lnc-OXCT1-1	chr5:42175255-42175366	XLOC_004800
14	lnc-OXCT1-1	chr5:42157034-42157513	XLOC_004800
15	lnc-OXCT1-1	chr5:42157044-42157513	XLOC_004800
16	lnc-OXCT1-1	chr5:42159127-42159155	XLOC_004800
17	lnc-OXCT1-1	chr5:42159129-42159155	NR_104636
18	lnc-FBXO4-1	chr5:42159126-42159155	NONHSAT101190
19	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
20	lnc-OXCT1-1	chr5:42159439-42159548	NR_104635
21	lnc-OXCT1-1	chr5:42157044-42157540	XLOC_004800
22	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
23	lnc-GHR-1	chr5:42188368-42191625	ENSG00000260786.1
24	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
25	lnc-OXCT1-1	chr5:42155935-42157513	NR_104635
26	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
27	lnc-OXCT1-1	chr5:42159127-42159155	XLOC_004800
28	lnc-OXCT1-1	chr5:42175255-42175356	ENSG00000248519
29	lnc-OXCT1-1	chr5:42153753-42153776	XLOC_004800
30	lnc-FBXO4-1	chr5:42159327-42159548	NONHSAT101190
31	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
32	lnc-FBXO4-1	chr5:42154408-42157540	NONHSAT101190
33	lnc-OXCT1-1	chr5:42156651-42157513	XLOC_004800
34	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
35	lnc-OXCT1-1	chr5:42175255-42175444	XLOC_004800
36	lnc-OXCT1-1	chr5:42154409-42157513	XLOC_004800
37	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
38	lnc-OXCT1-1	chr5:42155935-42157513	NR_104636
39	lnc-FBXO4-1	chr5:42157044-42157540	XLOC_004360
40	lnc-OXCT1-1	chr5:42175255-42175444	XLOC_004800
41	lnc-OXCT1-1	chr5:42175255-42175366	XLOC_004800
42	lnc-OXCT1-1	chr5:42175255-42175447	NR_104636
43	lnc-OXCT1-1	chr5:42157044-42157513	XLOC_004800
44	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
45	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
46	lnc-OXCT1-1	chr5:42175255-42175444	XLOC_004800
47	lnc-FBXO4-1	chr5:42157823-42157966	NONHSAT101190
48	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
49	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
50	lnc-OXCT1-1	chr5:42168565-42168689	NR_104635

Variant related genes	Relation type
ENSG00000260786	TF binding region
ENSG00000260786	CpG island
ENSG00000182400	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000205765	chromatin interactions
BIRC5	miRNA target sites
BIRC6	miRNA target sites
ALCAM	miRNA target sites
ZC3H12C	miRNA target sites
ELMOD2	miRNA target sites
MDFIC	miRNA target sites
G2E3	miRNA target sites
BIN3	miRNA target sites
FCHO2	miRNA target sites
SERPINB9	miRNA target sites
FAM171B	miRNA target sites
GFPT2	miRNA target sites
FBLIM1	miRNA target sites
FAM171A1	miRNA target sites
BLCAP	miRNA target sites
PHLPP2	miRNA target sites
CLIP3	miRNA target sites
SNTA1	miRNA target sites
FNDC3B	miRNA target sites
VN1R1	miRNA target sites
ELOVL2	miRNA target sites
TPD52L2	miRNA target sites
HADH	miRNA target sites

Extended variants
information (count: 2750 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2750 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2011105	chr5:42019110-42019111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555342501	chr5:42019148-42019149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542529304	chr5:42019160-42019161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543570694	chr5:42019245-42019246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80278225	chr5:42019311-42019312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552841675	chr5:42019329-42019330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375562329	chr5:42019388-42019389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370020189	chr5:42019400-42019401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114362108	chr5:42019403-42019404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72748638	chr5:42019444-42019445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188302038	chr5:42019445-42019446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529087622	chr5:42019450-42019451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372929657	chr5:42019528-42019529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150135732	chr5:42019530-42019531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539409966	chr5:42019620-42019621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373132912	chr5:42019657-42019658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531904583	chr5:42019658-42019659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138604771	chr5:42019678-42019679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562397154	chr5:42019693-42019694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529317207	chr5:42019709-42019710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376748223	chr5:42019733-42019734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200985691	chr5:42019801-42019802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113380116	chr5:42019802-42019803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200602637	chr5:42019810-42019811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566073693	chr5:42019829-42019830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35084626	chr5:42019861-42019862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533429679	chr5:42019871-42019872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72748639	chr5:42019889-42019890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185763162	chr5:42019916-42019917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537350458	chr5:42019924-42019925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533848792	chr5:42019995-42019996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144581858	chr5:42020019-42020020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16872111	chr5:42020105-42020106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534352240	chr5:42020111-42020112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138209725	chr5:42020118-42020119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16872112	chr5:42020119-42020120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143785855	chr5:42020165-42020166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16872114	chr5:42020183-42020184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576268646	chr5:42020267-42020268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34187495	chr5:42020274-42020275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16872115	chr5:42020281-42020282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs200796251	chr5:42020291-42020292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115167231	chr5:42020318-42020319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574259514	chr5:42020336-42020337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541080873	chr5:42020365-42020366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557618442	chr5:42020367-42020368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72748641	chr5:42020444-42020445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533466367	chr5:42020460-42020461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551855615	chr5:42020545-42020546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560647638	chr5:42020583-42020584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	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
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42016200-42022200	Weak transcription	NH-A	brain
2	chr5:42016400-42020400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:42016400-42021000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:42016600-42020600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:42016600-42020600	Weak transcription	HSMMtube	muscle
6	chr5:42016600-42020800	Weak transcription	HSMM	muscle
7	chr5:42016600-42021000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:42020400-42023800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:42020600-42022200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:42020600-42022400	Enhancers	HSMMtube	muscle
11	chr5:42020800-42021200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr5:42020800-42021200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:42020800-42021400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:42020800-42021400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:42020800-42023200	Enhancers	HSMM	muscle
16	chr5:42021000-42021400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:42021000-42021400	Enhancers	NHEK	skin
18	chr5:42021000-42021600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:42021000-42022200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:42021400-42021800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:42021600-42021800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:42021800-42022000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:42021800-42023600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:42022000-42022200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:42022200-42022400	Enhancers	NH-A	brain
26	chr5:42022200-42023000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:42023800-42026400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:42026400-42028400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:42028400-42034600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:42032200-42033400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:42033000-42033200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:42034600-42036000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:42035800-42036200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:42036000-42036200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:42036200-42037600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:42037200-42037400	Enhancers	Fetal Kidney	kidney
37	chr5:42037200-42037600	Enhancers	Liver	Liver
38	chr5:42037200-42038000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:42037200-42038200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:42037400-42038000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:42037400-42038200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:42037400-42038200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:42037600-42038200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:42037600-42040000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:42037800-42038200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr5:42037800-42038200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr5:42037800-42038200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:42038200-42041000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:42040000-42040200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:42040000-42041400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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