Variant report

Variant	nsv1032171
Chromosome Location	chr5:42015138-42220940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:635)
CpG islands
(count:244)
Chromatin interactive
region (count:33)
LncRNA
region (count:62)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:42108527-42109495	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:42074423-42074897	HepG2	liver:	n/a	n/a
3	ATF2	chr5:42021932-42022393	GM12878	blood:	n/a	n/a
4	ATF2	chr5:42021889-42022441	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	chr5:42149496-42149748	K562	blood:	n/a	n/a
10	CBX3	chr5:42149458-42149761	K562	blood:	n/a	n/a
11	CCNT2	chr5:42035889-42036029	K562	blood:	n/a	n/a
12	CEBPB	chr5:42073436-42073703	HepG2	liver:	n/a	n/a
13	CEBPB	chr5:42065575-42065745	HepG2	liver:	n/a	chr5:42065646-42065657
14	CEBPB	chr5:42063248-42063513	IMR90	lung:	n/a	n/a
15	CEBPB	chr5:42076505-42076846	A549	lung:	n/a	chr5:42076669-42076680
16	CEBPB	chr5:42017455-42017724	HepG2	liver:	n/a	chr5:42017600-42017611
17	CEBPB	chr5:42146958-42147053	K562	blood:	n/a	chr5:42147025-42147038 chr5:42147027-42147038
18	CEBPB	chr5:42076651-42076774	Hela-S3	cervix:	n/a	chr5:42076669-42076680
19	CEBPB	chr5:42076484-42076847	HepG2	liver:	n/a	chr5:42076669-42076680
20	CEBPB	chr5:42108605-42109246	Hela-S3	cervix:	n/a	chr5:42109018-42109029
21	CEBPB	chr5:42017607-42017805	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr5:42049998-42050125	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr5:42017466-42017794	K562	blood:	n/a	chr5:42017600-42017611
24	CEBPB	chr5:42076630-42076722	K562	blood:	n/a	chr5:42076669-42076680
25	CEBPB	chr5:42074366-42074840	HepG2	liver:	n/a	n/a
26	CEBPB	chr5:42146883-42147119	IMR90	lung:	n/a	chr5:42147025-42147038 chr5:42147027-42147038
27	CEBPB	chr5:42065561-42065755	K562	blood:	n/a	chr5:42065646-42065657
28	CEBPB	chr5:42065595-42065744	H1-hESC	embryonic stem cell:	n/a	chr5:42065646-42065657
29	CEBPZ	chr5:42107081-42107090	HepG2	liver:	n/a	n/a
30	CREB1	chr5:42021988-42022418	GM12878	blood:	n/a	n/a
31	CREB1	chr5:42021941-42022354	GM12878	blood:	n/a	n/a
32	CTCF	chr5:42057460-42057610	AG09319	gingival:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
33	CTCF	chr5:42057440-42057590	HCFaa	heart:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
34	CTCF	chr5:42057387-42057664	HUVEC	blood vessel:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
35	CTCF	chr5:42057407-42057664	MCF-7	breast:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
36	CTCF	chr5:42057395-42057700	A549	lung:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
37	CTCF	chr5:42057390-42057699	MCF-7	breast:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
38	CTCF	chr5:42180340-42180490	GM06990	blood:	n/a	n/a
39	CTCF	chr5:42057420-42057570	GM12870	blood:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
40	CTCF	chr5:42057440-42057590	HCT-116	colon:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
41	CTCF	chr5:42033806-42033824	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr5:42057460-42057610	NHEK	skin:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
43	CTCF	chr5:42056840-42056990	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr5:42057860-42058010	AG04450	lung:	n/a	n/a
45	CTCF	chr5:42123210-42123305	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:42057480-42057630	HAc	cerebellar:	n/a	chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
47	CTCF	chr5:42057860-42058010	HVMF	connective:	n/a	n/a
48	CTCF	chr5:42057440-42057590	HMF	breast:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543
49	CTCF	chr5:42060580-42060730	HMEC	breast:	n/a	n/a
50	CTCF	chr5:42057422-42057657	H1-hESC	embryonic stem cell:	n/a	chr5:42057463-42057471 chr5:42057526-42057542 chr5:42057527-42057540 chr5:42057520-42057541 chr5:42057525-42057543

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:42176454-42176504	HPAEpiC	pulmonary alveolar:	n/a
2	chr5:42175438-42175488	GM12878	blood:	n/a
3	chr5:42176806-42176856	SK-N-SH	brain:	n/a
4	chr5:42175368-42175418	SAEC	small airway:	n/a
5	chr5:42176806-42176856	AG10803	skin:	n/a
6	chr5:42175368-42175418	HEEpiC	esophagus:	n/a
7	chr5:42176454-42176504	IMR90	lung:	fetal
8	chr5:42176454-42176504	Hepatocyte	liver:	n/a
9	chr5:42176806-42176856	GM06990	blood:	n/a
10	chr5:42176806-42176856	AoSMC	blood vessel:	n/a
11	chr5:42175438-42175488	AG09319	gingival:	n/a
12	chr5:42176806-42176856	MCF10A-Er-Src	breast:	n/a
13	chr5:42176806-42176856	BE2_C	brain:	n/a
14	chr5:42176454-42176504	AG04450	lung:	fetal
15	chr5:42175368-42175418	IMR90	lung:	fetal
16	chr5:42176454-42176504	GM12878	blood:	n/a
17	chr5:42175368-42175418	MCF-7	breast:	n/a
18	chr5:42176806-42176856	AG09309	skin:	n/a
19	chr5:42176454-42176504	AG09309	skin:	n/a
20	chr5:42175438-42175488	HCF	heart:	n/a
21	chr5:42176454-42176504	Caco-2	colon:	n/a
22	chr5:42175368-42175418	GM12891	blood:	n/a
23	chr5:42175368-42175418	H1-hESC	embryonic stem cell:	embryo
24	chr5:42176454-42176504	AG04449	skin:	fetal
25	chr5:42175368-42175418	GM19239	blood:	n/a
26	chr5:42176806-42176856	U87	brain:	n/a
27	chr5:42176454-42176504	HRCEpiC	kidney:	n/a
28	chr5:42175368-42175418	HCM	heart:	n/a
29	chr5:42176806-42176856	HAEpiC	amniotic membrane:	n/a
30	chr5:42176454-42176504	BJ	skin:	n/a
31	chr5:42176806-42176856	PANC-1	pancreas:	n/a
32	chr5:42175368-42175418	HRPEpiC	eye:	n/a
33	chr5:42175368-42175418	RPTEC	kidney:	n/a
34	chr5:42176454-42176504	RPTEC	kidney:	n/a
35	chr5:42176454-42176504	A549	lung:	n/a
36	chr5:42175438-42175488	BE2_C	brain:	n/a
37	chr5:42176806-42176856	GM12891	blood:	n/a
38	chr5:42176806-42176856	PrEC	prostate:	n/a
39	chr5:42175368-42175418	SK-N-SH	brain:	n/a
40	chr5:42175438-42175488	IMR90	lung:	fetal
41	chr5:42175368-42175418	NHDF-neo	bronchial:	n/a
42	chr5:42175438-42175488	GM06990	blood:	n/a
43	chr5:42175438-42175488	PANC-1	pancreas:	n/a
44	chr5:42176806-42176856	AG04449	skin:	fetal
45	chr5:42176806-42176856	HCM	heart:	n/a
46	chr5:42175368-42175418	HL-60	blood:	n/a
47	chr5:42176806-42176856	SK-N-SH_RA	brain:	n/a
48	chr5:42175368-42175418	T-47D	breast:	n/a
49	chr5:42175368-42175418	BJ	skin:	n/a
50	chr5:42175438-42175488	AG09309	skin:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42037141..42039596-chr5:42040271..42043042,2	MCF-7	breast:
2	chr5:42164889..42166959-chr5:42173984..42175632,2	K562	blood:
3	chr5:42010842..42015595-chr5:42016092..42019954,4	K562	blood:
4	chr5:42108690..42109427-chr5:42127456..42127968,2	MCF-7	breast:
5	chr5:42058478..42060752-chr5:42063665..42066653,2	K562	blood:
6	chr5:42122185..42124242-chr5:42127395..42129833,2	MCF-7	breast:
7	chr5:42108690..42109427-chr5:42127456..42127968,2	MCF-7	breast:
8	chr5:41924690..41926858-chr5:42021925..42024916,2	K562	blood:
9	chr5:42005538..42006287-chr5:42057068..42058036,3	MCF-7	breast:
10	chr5:41856094..41857973-chr5:42056939..42058102,22	K562	blood:
11	chr5:41843846..41845908-chr5:42054612..42056725,2	K562	blood:
12	chr5:42127815..42129414-chr5:42135015..42137366,2	K562	blood:
13	chr5:42182671..42183209-chr7:83415074..83415902,2	MCF-7	breast:
14	chr5:42037141..42039596-chr5:42040271..42043042,2	MCF-7	breast:
15	chr5:42051426..42053654-chr5:42055217..42057669,2	K562	blood:
16	chr5:42127815..42129414-chr5:42135015..42137366,2	K562	blood:
17	chr5:42088817..42090333-chr5:42092349..42094008,2	K562	blood:
18	chr5:42011659..42014498-chr5:42016092..42018930,3	K562	blood:
19	chr5:42051426..42053654-chr5:42055217..42057669,2	K562	blood:
20	chr5:42058478..42060752-chr5:42063665..42066653,2	K562	blood:
21	chr5:41859110..41859726-chr5:42056831..42057996,3	K562	blood:
22	chr5:42122185..42124242-chr5:42127395..42129833,2	MCF-7	breast:
23	chr5:42164889..42166959-chr5:42173984..42175632,2	K562	blood:
24	chr5:42213251..42214932-chr5:42220476..42222558,2	K562	blood:
25	chr14:39638324..39641258-chr5:42070731..42072523,2	MCF-7	breast:
26	chr5:42097992..42098898-chr8:102360247..102361219,2	MCF-7	breast:
27	chr5:42213251..42214932-chr5:42220476..42222558,2	K562	blood:
28	chr13:108004543..108005043-chr5:42099053..42099670,2	MCF-7	breast:
29	chr5:41902588..41905209-chr5:42048616..42051351,2	K562	blood:
30	chr5:41856847..41857569-chr5:42057071..42057972,2	MCF-7	breast:
31	chr5:42057339..42057915-chr5:42889168..42890099,2	K562	blood:
32	chr5:42088817..42090333-chr5:42092349..42094008,2	K562	blood:
33	chr5:42010842..42015595-chr5:42016092..42019954,4	K562	blood:

(count:62 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
2	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
3	lnc-FBXO4-1	chr5:42157824-42157966	XLOC_004360
4	lnc-FBXO4-1	chr5:42175254-42175444	NONHSAT101190
5	lnc-OXCT1-2	chr5:42204322-42204446	ucscGeneNc_uc003jms_1
6	lnc-OXCT1-1	chr5:42175255-42175447	NR_104635
7	lnc-OXCT1-1	chr5:42175255-42175275	XLOC_004800
8	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
9	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
10	lnc-OXCT1-1	chr5:42175255-42175356	ENSG00000248519
11	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
12	lnc-OXCT1-1	chr5:42157044-42157513	XLOC_004800
13	lnc-OXCT1-1	chr5:42155935-42157513	NR_104636
14	lnc-OXCT1-1	chr5:42175255-42175444	XLOC_004800
15	lnc-FBXO4-1	chr5:42168564-42168689	NONHSAT101190
16	lnc-FBXO4-1	chr5:42154408-42157540	NONHSAT101190
17	lnc-FBXO4-1	chr5:42157823-42157966	NONHSAT101190
18	lnc-OXCT1-1	chr5:42175255-42175444	XLOC_004800
19	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
20	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
21	lnc-OXCT1-1	chr5:42159127-42159155	XLOC_004800
22	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
23	lnc-OXCT1-1	chr5:42175255-42175444	XLOC_004800
24	lnc-OXCT1-1	chr5:42168565-42168689	NR_104635
25	lnc-OXCT1-1	chr5:42175255-42175366	XLOC_004800
26	lnc-OXCT1-1	chr5:42157044-42157540	XLOC_004800
27	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
28	lnc-OXCT1-1	chr5:42175255-42175447	NR_104636
29	lnc-FBXO4-1	chr5:42159327-42159548	NONHSAT101190
30	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
31	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
32	lnc-OXCT1-1	chr5:42159127-42159155	XLOC_004800
33	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
34	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
35	lnc-GHR-1	chr5:42188368-42191625	ENSG00000260786.1
36	lnc-OXCT1-1	chr5:42157034-42157513	XLOC_004800
37	lnc-OXCT1-1	chr5:42154409-42157513	XLOC_004800
38	lnc-OXCT1-1	chr5:42159129-42159155	NR_104636
39	lnc-OXCT1-1	chr5:42159439-42159548	NR_104635
40	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
41	lnc-OXCT1-2	chr5:42195196-42195305	ucscGeneNc_uc003jms_1
42	lnc-OXCT1-1	chr5:42175255-42175444	XLOC_004800
43	lnc-FBXO4-1	chr5:42159126-42159155	NONHSAT101190
44	lnc-OXCT1-2	chr5:42211012-42211113	ucscGeneNc_uc003jms_1
45	lnc-OXCT1-1	chr5:42159439-42159548	NR_104636
46	lnc-OXCT1-1	chr5:42168565-42168689	ENSG00000248519
47	lnc-FBXO4-1	chr5:42153042-42153776	NONHSAT101190
48	lnc-OXCT1-1	chr5:42155935-42157513	ENSG00000248519
49	lnc-OXCT1-2	chr5:42191692-42193270	ucscGeneNc_uc003jms_1
50	lnc-OXCT1-1	chr5:42157044-42157513	XLOC_004800

No data

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

Extended variants
information (count: 3045 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3045 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578087253	chr5:42015147-42015148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150818331	chr5:42015160-42015161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535423916	chr5:42015168-42015169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139238210	chr5:42015198-42015199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576005560	chr5:42015249-42015250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112003460	chr5:42015260-42015261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543072243	chr5:42015263-42015264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375077644	chr5:42015264-42015265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561300990	chr5:42015275-42015276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190227326	chr5:42015311-42015312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540676724	chr5:42015320-42015321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564943115	chr5:42015344-42015345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145360232	chr5:42015368-42015369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575637085	chr5:42015382-42015383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550360290	chr5:42015393-42015394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72748635	chr5:42015409-42015410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181431505	chr5:42015433-42015434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185913151	chr5:42015452-42015453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115745025	chr5:42015519-42015520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80097998	chr5:42015534-42015535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72748636	chr5:42015558-42015559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552207179	chr5:42015566-42015567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147682760	chr5:42015626-42015627	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs539284567	chr5:42015654-42015655	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs557978364	chr5:42015679-42015680	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs16872094	chr5:42015691-42015692	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569605864	chr5:42015693-42015694	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs536923586	chr5:42015700-42015701	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs191914044	chr5:42015711-42015712	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs183704973	chr5:42015719-42015720	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs189142570	chr5:42015758-42015759	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs559057444	chr5:42015778-42015779	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs540932105	chr5:42015783-42015784	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs192051110	chr5:42015819-42015820	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs542827204	chr5:42015822-42015823	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs537569027	chr5:42015823-42015824	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs74634306	chr5:42015834-42015835	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs562305667	chr5:42015901-42015902	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs78916904	chr5:42015932-42015933	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs16872097	chr5:42016020-42016021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559904997	chr5:42016072-42016073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16872099	chr5:42016073-42016074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551883157	chr5:42016142-42016143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570589427	chr5:42016166-42016167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541391373	chr5:42016224-42016225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182765165	chr5:42016230-42016231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186791577	chr5:42016267-42016268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370927099	chr5:42016341-42016342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531920991	chr5:42016387-42016388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10941561	chr5:42016471-42016472	Enhancers Weak transcription	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:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42013400-42015600	Enhancers	Liver	Liver
2	chr5:42014400-42016400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:42014800-42016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:42015200-42016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:42015200-42016600	Enhancers	HSMM	muscle
6	chr5:42015200-42016600	Enhancers	HSMMtube	muscle
7	chr5:42015400-42015800	Enhancers	NHLF	lung
8	chr5:42015400-42016200	Enhancers	NH-A	brain
9	chr5:42015400-42016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:42015400-42016600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:42015400-42016600	Enhancers	NHDF-Ad	bronchial
12	chr5:42015600-42016000	Bivalent Enhancer	Liver	Liver
13	chr5:42015600-42016400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:42016000-42016200	Enhancers	Liver	Liver
15	chr5:42016200-42022200	Weak transcription	NH-A	brain
16	chr5:42016400-42020400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:42016400-42021000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:42016600-42020600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:42016600-42020600	Weak transcription	HSMMtube	muscle
20	chr5:42016600-42020800	Weak transcription	HSMM	muscle
21	chr5:42016600-42021000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:42020400-42023800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:42020600-42022200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:42020600-42022400	Enhancers	HSMMtube	muscle
25	chr5:42020800-42021200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr5:42020800-42021200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:42020800-42021400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:42020800-42021400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:42020800-42023200	Enhancers	HSMM	muscle
30	chr5:42021000-42021400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:42021000-42021400	Enhancers	NHEK	skin
32	chr5:42021000-42021600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:42021000-42022200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:42021400-42021800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:42021600-42021800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:42021800-42022000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:42021800-42023600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:42022000-42022200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:42022200-42022400	Enhancers	NH-A	brain
40	chr5:42022200-42023000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:42023800-42026400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:42026400-42028400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:42028400-42034600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:42032200-42033400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:42033000-42033200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:42034600-42036000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:42035800-42036200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr5:42036000-42036200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:42036200-42037600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:42037200-42037400	Enhancers	Fetal Kidney	kidney

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