Variant report

Variant	nsv1006572
Chromosome Location	chr4:120432494-120694243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2107)
CpG islands
(count:1954)
Chromatin interactive
region (count:65)
LncRNA
region (count:54)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2107 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:120464380-120464644	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:120650099-120650109	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:120446197-120447155	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:120628221-120628906	HepG2	liver:	n/a	chr4:120628516-120628532
5	ARID3A	chr4:120612167-120612236	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:120581029-120581300	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:120480278-120480521	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:120548424-120548485	HepG2	liver:	n/a	n/a
9	ARID3A	chr4:120618994-120619240	HepG2	liver:	n/a	n/a
10	ARID3A	chr4:120651300-120651629	HepG2	liver:	n/a	n/a
11	BACH1	chr4:120665816-120665987	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:120549436-120549440	K562	blood:	n/a	n/a
13	BACH1	chr4:120548154-120549329	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr4:120587008-120587130	K562	blood:	n/a	n/a
15	BACH1	chr4:120612184-120612197	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:120549699-120550371	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr4:120504668-120504817	GM12878	blood:	n/a	n/a
18	BATF	chr4:120619054-120619429	GM12878	blood:	n/a	n/a
19	BATF	chr4:120504646-120504815	GM12878	blood:	n/a	n/a
20	BATF	chr4:120618997-120619536	GM12878	blood:	n/a	n/a
21	BCL11A	chr4:120619070-120619411	GM12878	blood:	n/a	n/a
22	BCL3	chr4:120651256-120651609	A549	lung:	n/a	n/a
23	BCL3	chr4:120651215-120651623	A549	lung:	n/a	n/a
24	BHLHE40	chr4:120564802-120565092	K562	blood:	n/a	n/a
25	BHLHE40	chr4:120564874-120564985	GM12878	blood:	n/a	n/a
26	BHLHE40	chr4:120461483-120461719	GM12878	blood:	n/a	n/a
27	BHLHE40	chr4:120555071-120555145	GM12878	blood:	n/a	n/a
28	BHLHE40	chr4:120550059-120550390	GM12878	blood:	n/a	n/a
29	BHLHE40	chr4:120548309-120548509	K562	blood:	n/a	n/a
30	BHLHE40	chr4:120433767-120433871	K562	blood:	n/a	n/a
31	BRCA1	chr4:120650095-120650858	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr4:120550249-120550252	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr4:120548324-120548428	HepG2	liver:	n/a	n/a
34	BRCA1	chr4:120651190-120651700	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr4:120612048-120612441	HCT-116	colon:	n/a	n/a
36	CBX3	chr4:120649804-120650317	HCT-116	colon:	n/a	n/a
37	CCNT2	chr4:120549728-120550314	K562	blood:	n/a	n/a
38	CCNT2	chr4:120548337-120548678	K562	blood:	n/a	n/a
39	CCNT2	chr4:120439031-120439231	K562	blood:	n/a	n/a
40	CEBPB	chr4:120446570-120446855	HepG2	liver:	n/a	n/a
41	CEBPB	chr4:120582417-120582664	H1-hESC	embryonic stem cell:	n/a	chr4:120582565-120582576 chr4:120582567-120582578
42	CEBPB	chr4:120649370-120649705	IMR90	lung:	n/a	n/a
43	CEBPB	chr4:120507206-120507283	K562	blood:	n/a	n/a
44	CEBPB	chr4:120674119-120674460	IMR90	lung:	n/a	chr4:120674275-120674286
45	CEBPB	chr4:120550029-120550388	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr4:120457746-120458112	IMR90	lung:	n/a	n/a
47	CEBPB	chr4:120604676-120604956	HepG2	liver:	n/a	chr4:120604783-120604794 chr4:120604785-120604796 chr4:120604783-120604796
48	CEBPB	chr4:120674174-120674352	H1-hESC	embryonic stem cell:	n/a	chr4:120674275-120674286
49	CEBPB	chr4:120650525-120650815	IMR90	lung:	n/a	n/a
50	CEBPB	chr4:120674124-120674441	K562	blood:	n/a	chr4:120674275-120674286

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:120448071-120448121	HCF	heart:	n/a
2	chr4:120548606-120548656	HCF	heart:	n/a
3	chr4:120448071-120448121	HCF	heart:	n/a
4	chr4:120548606-120548656	HCF	heart:	n/a
5	chr4:120550218-120550268	GM12878	blood:	n/a
6	chr4:120433619-120433669	BJ	skin:	n/a
7	chr4:120549163-120549213	ovcar-3	ovarian:	n/a
8	chr4:120518737-120518787	HCM	heart:	n/a
9	chr4:120548606-120548656	HRPEpiC	eye:	n/a
10	chr4:120568336-120568386	GM12891	blood:	n/a
11	chr4:120439736-120439786	HRCEpiC	kidney:	n/a
12	chr4:120568336-120568386	Hela-S3	cervix:	n/a
13	chr4:120550047-120550097	SK-N-SH	brain:	n/a
14	chr4:120448071-120448121	HAEpiC	amniotic membrane:	n/a
15	chr4:120613606-120613656	HEK293	kidney:	embryo
16	chr4:120549740-120549790	HUVEC	blood vessel:	n/a
17	chr4:120549256-120549306	BE2_C	brain:	n/a
18	chr4:120549256-120549306	HL-60	blood:	n/a
19	chr4:120472195-120472245	A549	lung:	n/a
20	chr4:120550423-120550473	HNPCEpiC	eye:	n/a
21	chr4:120646965-120647015	SK-N-SH	brain:	n/a
22	chr4:120613606-120613656	NH-A	brain:	n/a
23	chr4:120613606-120613656	NHBE	bronchial:	n/a
24	chr4:120549740-120549790	Hepatocyte	liver:	n/a
25	chr4:120493308-120493358	GM06990	blood:	n/a
26	chr4:120550047-120550097	MCF10A-Er-Src	breast:	n/a
27	chr4:120548932-120548982	HUVEC	blood vessel:	n/a
28	chr4:120472195-120472245	NHBE	bronchial:	n/a
29	chr4:120549792-120549842	HMEC	breast:	n/a
30	chr4:120550423-120550473	GM12878	blood:	n/a
31	chr4:120550047-120550097	HPAEpiC	pulmonary alveolar:	n/a
32	chr4:120548606-120548656	BE2_C	brain:	n/a
33	chr4:120568336-120568386	HRE	kidney:	n/a
34	chr4:120549256-120549306	GM19239	blood:	n/a
35	chr4:120549792-120549842	AG09309	skin:	n/a
36	chr4:120502068-120502118	RPTEC	kidney:	n/a
37	chr4:120605519-120605569	HCF	heart:	n/a
38	chr4:120465302-120465352	IMR90	lung:	fetal
39	chr4:120671846-120671896	SK-N-SH_RA	brain:	n/a
40	chr4:120549840-120549890	Hela-S3	cervix:	n/a
41	chr4:120549556-120549606	AG04450	lung:	fetal
42	chr4:120502068-120502118	SKMC	muscle:	n/a
43	chr4:120568336-120568386	HEK293	kidney:	embryo
44	chr4:120549792-120549842	AG04450	lung:	fetal
45	chr4:120551256-120551306	MCF10A-Er-Src	breast:	n/a
46	chr4:120547946-120547996	GM19239	blood:	n/a
47	chr4:120613606-120613656	GM06990	blood:	n/a
48	chr4:120551256-120551306	SKMC	muscle:	n/a
49	chr4:120548337-120548387	NT2-D1	testis:	n/a
50	chr4:120472195-120472245	GM12892	blood:	n/a

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:120485362..120487909-chr4:120507957..120510627,2	K562	blood:
2	chr4:120548759..120550296-chr4:120986622..120988750,2	K562	blood:
3	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
4	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:
5	chr4:120548112..120549815-chr4:120627740..120630538,2	MCF-7	breast:
6	chr11:111666161..111667030-chr4:120547990..120548695,2	MCF-7	breast:
7	chr4:120452049..120454264-chr4:120457306..120459994,2	K562	blood:
8	chr4:120451404..120453710-chr4:120455782..120457954,2	MCF-7	breast:
9	chr4:120431676..120434490-chr4:120437261..120440193,2	K562	blood:
10	chr4:120452049..120454264-chr4:120457306..120459994,2	K562	blood:
11	chr4:120486128..120488621-chr4:120988005..120990229,2	MCF-7	breast:
12	chr4:120687235..120689580-chr4:120690660..120692229,2	K562	blood:
13	chr4:120456752..120459407-chr4:120463554..120465476,2	K562	blood:
14	chr4:120692868..120695733-chr4:120948622..120950761,2	K562	blood:
15	chr4:120552728..120554364-chr4:120974086..120975727,2	MCF-7	breast:
16	chr4:120442633..120445586-chr4:120448509..120450219,2	MCF-7	breast:
17	chr4:120536229..120539044-chr4:120539476..120542801,3	K562	blood:
18	chr4:120517016..120518530-chr4:120541484..120543231,2	K562	blood:
19	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
20	chr4:120537436..120539044-chr4:120539975..120542801,2	K562	blood:
21	chr4:120447620..120450408-chr4:120454969..120457330,2	K562	blood:
22	chr4:120532371..120535379-chr4:120540193..120542602,3	K562	blood:
23	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
24	chr4:120461776..120463313-chr4:120464318..120466484,2	K562	blood:
25	chr4:120693336..120693874-chr8:146175674..146176413,2	HCT-116	colon:
26	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
27	chr4:120443923..120447132-chr4:120450912..120453275,3	K562	blood:
28	chr4:120648083..120649725-chr4:120663986..120665688,2	MCF-7	breast:
29	chr4:120431226..120433152-chr4:120441758..120443501,2	K562	blood:
30	chr4:120628103..120631011-chr4:120987258..120989311,2	MCF-7	breast:
31	chr4:120596527..120599476-chr4:120602386..120604246,2	K562	blood:
32	chr4:120430071..120433986-chr4:120435294..120438761,4	K562	blood:
33	chr4:120532371..120535379-chr4:120540193..120542602,3	K562	blood:
34	chr4:120548059..120548579-chr4:120971160..120971673,2	K562	blood:
35	chr4:120422211..120423883-chr4:120441121..120442797,2	K562	blood:
36	chr4:120687235..120689580-chr4:120690660..120692229,2	K562	blood:
37	chr4:120445632..120447241-chr4:120450649..120452412,2	K562	blood:
38	chr13:41344913..41345600-chr4:120457409..120458239,2	MCF-7	breast:
39	chr4:120517016..120518530-chr4:120541484..120543231,2	K562	blood:
40	chr4:120550452..120551201-chr4:120970722..120971578,2	K562	blood:
41	chr4:120445632..120447241-chr4:120450649..120452412,2	K562	blood:
42	chr4:120415639..120417290-chr4:120441000..120443323,2	K562	blood:
43	chr4:120623553..120626100-chr4:120629562..120632070,2	MCF-7	breast:
44	chr4:120479940..120480779-chr4:120548493..120549108,2	MCF-7	breast:
45	chr4:120418959..120421709-chr4:120435895..120438263,2	MCF-7	breast:
46	chr4:120620209..120622395-chr4:120625865..120628325,2	K562	blood:
47	chr4:120437151..120439080-chr4:120441248..120444121,2	K562	blood:
48	chr4:120485362..120487909-chr4:120507957..120510627,2	K562	blood:
49	chr4:120479930..120480751-chr4:120707167..120707918,2	MCF-7	breast:
50	chr4:120583446..120585876-chr4:120986631..120988328,2	K562	blood:

(count:54 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-10	chr4:120653416-120653523	ucscGeneNc_uc003idi_2
2	lnc-AC110373.1-8	chr4:120469361-120471598	NONHSAT098095
3	lnc-AC110373.1-8	chr4:120448525-120448670	NONHSAT098093
4	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098089
5	lnc-FABP2-3	chr4:120459936-120459997	NONHSAT098094
6	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT147298
7	lnc-FABP2-4	chr4:120549659-120549940	NONHSAT098100
8	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT147298
9	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098085
10	lnc-AC110373.1-10	chr4:120652954-120653067	ucscGeneNc_uc003idi_2
11	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT098091
12	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098085
13	lnc-AC110373.1-8	chr4:120433506-120433619	NONHSAT098086
14	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098089
15	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098089
16	lnc-FABP2-3	chr4:120462909-120463157	NONHSAT098094
17	lnc-AC110373.1-8	chr4:120473043-120473179	NONHSAT098085
18	lnc-AC110373.1-8	chr4:120473043-120473178	NONHSAT098089
19	lnc-AC110373.1-8	chr4:120464908-120465044	NONHSAT098092
20	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098093
21	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098092
22	lnc-AC110373.1-8	chr4:120440644-120440721	NONHSAT098086
23	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT147298
24	lnc-FABP2-3	chr4:120460115-120460174	NONHSAT098094
25	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098090
26	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT098093
27	lnc-AC110373.1-8	chr4:120433927-120434125	NONHSAT098092
28	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098085
29	lnc-AC110373.1-8	chr4:120433512-120433619	NONHSAT098090
30	lnc-AC110373.1-10	chr4:120692491-120692627	ucscGeneNc_uc003idi_2
31	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098090
32	lnc-AC110373.1-8	chr4:120433968-120434075	NONHSAT098089
33	lnc-AC110373.1-8	chr4:120449895-120450022	NONHSAT098091
34	lnc-AC110373.1-9	chr4:120548945-120551908	NONHSAT098098
35	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT098091
36	lnc-AC110373.1-10	chr4:120690982-120691046	ucscGeneNc_uc003idi_2
37	lnc-AC110373.1-8	chr4:120449895-120449944	NONHSAT098093
38	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098090
39	lnc-AC110373.1-8	chr4:120471534-120471598	NONHSAT098091
40	lnc-AC110373.1-4	chr4:120597484-120597814	XLOC_003669
41	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT147298
42	lnc-AC110373.1-8	chr4:120464908-120465000	NONHSAT098085
43	lnc-AC110373.1-10	chr4:120669343-120669392	ucscGeneNc_uc003idi_2
44	lnc-AC110373.1-8	chr4:120473043-120473181	NONHSAT098090
45	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098091
46	lnc-PDE5A-1	chr4:120578273-120578304	XLOC_004057
47	lnc-AC110373.1-8	chr4:120433968-120434125	NONHSAT098086
48	lnc-AC110373.1-8	chr4:120473043-120473180	NONHSAT098095
49	lnc-PDE5A-1	chr4:120559333-120559618	XLOC_004057
50	lnc-AC110373.1-4	chr4:120610321-120610372	XLOC_003669

No data

Variant related genes	Relation type
ENSG00000221245	TF binding region
PDE5A	TF binding region
ENSG00000245958	TF binding region
ENSG00000221245	CpG island
PDE5A	CpG island
ENSG00000245958	CpG island
ENSG00000164109	chromatin interactions
ENSG00000138735	chromatin interactions
ENSG00000245958	chromatin interactions
ENSG00000102738	chromatin interactions
ENSG00000170631	chromatin interactions
ENSG00000250938	chromatin interactions

Extended variants
information (count: 8601 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:8601 , 50 per page) page: 1 2 3 4 5 6 7 ... 173

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3775846	chr4:120432527-120432528	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183871470	chr4:120432529-120432530	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140793774	chr4:120432545-120432546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28634062	chr4:120432555-120432556	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34002300	chr4:120432596-120432597	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187665446	chr4:120432624-120432625	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376052084	chr4:120432709-120432710	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561843142	chr4:120432725-120432726	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543657694	chr4:120432726-120432727	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563865389	chr4:120432728-120432729	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192585638	chr4:120432755-120432756	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552874971	chr4:120432784-120432785	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370740704	chr4:120432811-120432812	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150107902	chr4:120432822-120432823	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563956560	chr4:120432831-120432832	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542489312	chr4:120432853-120432854	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77676780	chr4:120432934-120432935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111533296	chr4:120432949-120432950	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568506009	chr4:120433010-120433011	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537502607	chr4:120433029-120433030	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556092407	chr4:120433045-120433046	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138914450	chr4:120433080-120433081	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1480933	chr4:120433248-120433249	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs558458245	chr4:120433250-120433251	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184258119	chr4:120433330-120433331	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540717639	chr4:120433350-120433351	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554503609	chr4:120433351-120433352	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576043888	chr4:120433352-120433353	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188654886	chr4:120433385-120433386	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544256908	chr4:120433396-120433397	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs563933322	chr4:120433441-120433442	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs191654885	chr4:120433486-120433487	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs140644468	chr4:120433489-120433490	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs565241564	chr4:120433594-120433595	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs532781305	chr4:120433619-120433620	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs114899275	chr4:120433702-120433703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184468977	chr4:120433705-120433706	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188771746	chr4:120433782-120433783	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564526182	chr4:120433785-120433786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528789842	chr4:120433788-120433789	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548292929	chr4:120433800-120433801	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386678961	chr4:120433807-120433808	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145898633	chr4:120433809-120433810	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550916053	chr4:120433817-120433818	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567725589	chr4:120433819-120433820	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570598774	chr4:120433936-120433937	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs1480935	chr4:120433982-120433983	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs61747388	chr4:120434015-120434016	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs182132591	chr4:120434025-120434026	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs138463895	chr4:120434106-120434107	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Myelodysplastic syndrome	18508791	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:3392 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120377200-120433800	Weak transcription	Gastric	stomach
3	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
4	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
5	chr4:120377600-120441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
7	chr4:120384400-120439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:120397800-120442600	Weak transcription	Hela-S3	cervix
9	chr4:120401600-120433800	Weak transcription	Right Ventricle	heart
10	chr4:120401800-120433400	Weak transcription	Psoas Muscle	Psoas
11	chr4:120403400-120445800	Weak transcription	A549	lung
12	chr4:120408400-120433800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:120413800-120433800	Weak transcription	Esophagus	oesophagus
14	chr4:120414000-120438200	Strong transcription	Osteobl	bone
15	chr4:120414400-120440400	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:120415200-120433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:120415200-120438800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:120416400-120434400	Weak transcription	Brain Substantia Nigra	brain
19	chr4:120416600-120434200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:120416800-120436000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:120417200-120434400	Weak transcription	K562	blood
22	chr4:120417200-120439400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:120417400-120434400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:120417600-120445800	Weak transcription	NHEK	skin
25	chr4:120418600-120434000	Weak transcription	Colonic Mucosa	Colon
26	chr4:120419600-120439200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:120420200-120433000	Weak transcription	Fetal Brain Female	brain
28	chr4:120420200-120433600	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:120420200-120433600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:120420200-120433600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:120420200-120434200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:120420200-120434400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:120420200-120439000	Weak transcription	GM12878-XiMat	blood
34	chr4:120420200-120440200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:120420200-120440200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:120420200-120485400	Weak transcription	Fetal Brain Male	brain
37	chr4:120420400-120434200	Weak transcription	HMEC	breast
38	chr4:120420400-120449600	Weak transcription	Brain Angular Gyrus	brain
39	chr4:120420600-120433600	Weak transcription	Brain Germinal Matrix	brain
40	chr4:120420800-120432600	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:120420800-120434000	Weak transcription	Lung	lung
42	chr4:120420800-120434800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:120421000-120434000	Weak transcription	Thymus	Thymus
44	chr4:120421000-120434200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:120421000-120443600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:120421000-120445600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:120421200-120455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:120421400-120439000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:120421600-120434400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:120421600-120439000	Weak transcription	HUVEC	blood vessel

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