Variant report

Variant	nsv1008115
Chromosome Location	chr4:120007913-120143849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1943)
CpG islands
(count:1404)
Chromatin interactive
region (count:99)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1943 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:120133356-120133721	K562	blood:	n/a	n/a
2	ARID3A	chr4:120134972-120135071	K562	blood:	n/a	n/a
3	ARID3A	chr4:120061121-120061568	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:120034563-120034635	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:120014245-120014446	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:120134163-120134427	K562	blood:	n/a	n/a
7	ARID3A	chr4:120130317-120130517	K562	blood:	n/a	n/a
8	ARID3A	chr4:120020305-120020333	K562	blood:	n/a	n/a
9	ARID3A	chr4:120132957-120133952	HepG2	liver:	n/a	n/a
10	ARID3A	chr4:120014649-120014660	HepG2	liver:	n/a	n/a
11	ARID3A	chr4:120069300-120069382	K562	blood:	n/a	n/a
12	ATF1	chr4:120024459-120024838	K562	blood:	n/a	n/a
13	ATF1	chr4:120130225-120130573	K562	blood:	n/a	n/a
14	ATF1	chr4:120128352-120128603	K562	blood:	n/a	n/a
15	ATF2	chr4:120133137-120133806	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr4:120133080-120133718	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr4:120133157-120133688	GM12878	blood:	n/a	n/a
18	ATF3	chr4:120024333-120024882	A549	lung:	n/a	n/a
19	ATF3	chr4:120024370-120024929	A549	lung:	n/a	n/a
20	ATF3	chr4:120024324-120024955	HCT-116	colon:	n/a	n/a
21	ATF3	chr4:120034410-120034782	HCT-116	colon:	n/a	n/a
22	ATF3	chr4:120024490-120024806	K562	blood:	n/a	n/a
23	ATF3	chr4:120024332-120025018	HCT-116	colon:	n/a	n/a
24	BACH1	chr4:120023606-120023664	K562	blood:	n/a	n/a
25	BACH1	chr4:120043723-120043785	K562	blood:	n/a	n/a
26	BACH1	chr4:120139290-120139298	K562	blood:	n/a	n/a
27	BACH1	chr4:120064009-120064372	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr4:120064017-120064337	K562	blood:	n/a	n/a
29	BACH1	chr4:120133199-120133794	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr4:120134004-120134486	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr4:120134176-120134566	GM12878	blood:	n/a	n/a
32	BATF	chr4:120130227-120130549	GM12878	blood:	n/a	chr4:120130421-120130432 chr4:120130422-120130432
33	BCL3	chr4:120023637-120024906	A549	lung:	n/a	n/a
34	BCL3	chr4:120133201-120133684	A549	lung:	n/a	n/a
35	BHLHE40	chr4:120045731-120045795	K562	blood:	n/a	n/a
36	BHLHE40	chr4:120133078-120133674	GM12878	blood:	n/a	n/a
37	BHLHE40	chr4:120134427-120134634	GM12878	blood:	n/a	n/a
38	BHLHE40	chr4:120133201-120134526	K562	blood:	n/a	n/a
39	BHLHE40	chr4:120023932-120024184	HepG2	liver:	n/a	n/a
40	BRCA1	chr4:120133255-120133923	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr4:120133416-120133666	GM12878	blood:	n/a	n/a
42	BRCA1	chr4:120130254-120130574	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr4:120133057-120133814	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr4:120134066-120134389	H1-hESC	embryonic stem cell:	n/a	n/a
45	BRCA1	chr4:120133261-120133903	HepG2	liver:	n/a	n/a
46	BRCA1	chr4:120134178-120134499	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr4:120034414-120034855	HCT-116	colon:	n/a	n/a
48	CBX3	chr4:120133177-120134575	K562	blood:	n/a	n/a
49	CBX3	chr4:120034232-120034884	HCT-116	colon:	n/a	n/a
50	CBX3	chr4:120133125-120134645	HCT-116	colon:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:120132554-120132604	CMK	blood:	n/a
2	chr4:120132554-120132604	CMK	blood:	n/a
3	chr4:120057110-120057160	BE2_C	brain:	n/a
4	chr4:120132554-120132604	HRPEpiC	eye:	n/a
5	chr4:120132554-120132604	ovcar-3	ovarian:	n/a
6	chr4:120133706-120133756	HCM	heart:	n/a
7	chr4:120133661-120133711	AG04450	lung:	fetal
8	chr4:120133741-120133791	ovcar-3	ovarian:	n/a
9	chr4:120057818-120057868	HCM	heart:	n/a
10	chr4:120015469-120015519	HUVEC	blood vessel:	n/a
11	chr4:120133691-120133741	IMR90	lung:	fetal
12	chr4:120133661-120133711	AG09319	gingival:	n/a
13	chr4:120133567-120133617	Hela-S3	cervix:	n/a
14	chr4:120133661-120133711	HEEpiC	esophagus:	n/a
15	chr4:120127485-120127535	Hepatocyte	liver:	n/a
16	chr4:120133741-120133791	NB4	blood:	n/a
17	chr4:120134582-120134632	AG04450	lung:	fetal
18	chr4:120015469-120015519	RPTEC	kidney:	n/a
19	chr4:120134074-120134124	T-47D	breast:	n/a
20	chr4:120133804-120133854	NHDF-neo	bronchial:	n/a
21	chr4:120133583-120133633	K562	blood:	n/a
22	chr4:120133921-120133971	HPAEpiC	pulmonary alveolar:	n/a
23	chr4:120133706-120133756	HEK293	kidney:	embryo
24	chr4:120133921-120133971	Hela-S3	cervix:	n/a
25	chr4:120133691-120133741	AG09309	skin:	n/a
26	chr4:120056829-120056879	SK-N-MC	brain:	n/a
27	chr4:120127485-120127535	HNPCEpiC	eye:	n/a
28	chr4:120061211-120061261	AG10803	skin:	n/a
29	chr4:120133583-120133633	MCF10A-Er-Src	breast:	n/a
30	chr4:120015469-120015519	IMR90	lung:	fetal
31	chr4:120133804-120133854	AG09319	gingival:	n/a
32	chr4:120138107-120138157	NHDF-neo	bronchial:	n/a
33	chr4:120061211-120061261	HRPEpiC	eye:	n/a
34	chr4:120133382-120133432	ProgFib	skin:	n/a
35	chr4:120133804-120133854	ECC-1	luminal epithelium:	n/a
36	chr4:120133663-120133713	SK-N-MC	brain:	n/a
37	chr4:120015469-120015519	SK-N-MC	brain:	n/a
38	chr4:120127485-120127535	HRE	kidney:	n/a
39	chr4:120015469-120015519	HMEC	breast:	n/a
40	chr4:120061211-120061261	BE2_C	brain:	n/a
41	chr4:120133567-120133617	HRPEpiC	eye:	n/a
42	chr4:120015469-120015519	AG09319	gingival:	n/a
43	chr4:120056829-120056879	HNPCEpiC	eye:	n/a
44	chr4:120127485-120127535	PFSK-1	brain:	n/a
45	chr4:120133661-120133711	Hela-S3	cervix:	n/a
46	chr4:120055608-120055658	IMR90	lung:	fetal
47	chr4:120133607-120133657	HCF	heart:	n/a
48	chr4:120133741-120133791	HIPEpiC	eye:	n/a
49	chr4:120055608-120055658	HRE	kidney:	n/a
50	chr4:120138107-120138157	HCF	heart:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:120133662..120134401-chr5:56205967..56206598,2	Hela-S3	cervix:
2	chr4:120110664..120112250-chr4:120132207..120134016,2	K562	blood:
3	chr4:120096520..120098803-chr4:120098872..120101479,2	K562	blood:
4	chr4:120026582..120029647-chr4:120131891..120134886,3	MCF-7	breast:
5	chr4:120133772..120134736-chr6:30294177..30294683,2	Hela-S3	cervix:
6	chr4:120033457..120035928-chr4:120042450..120044760,2	MCF-7	breast:
7	chr4:120136237..120140737-chr4:120147652..120152174,4	MCF-7	breast:
8	chr4:119964664..119967824-chr4:120028894..120031199,3	MCF-7	breast:
9	chr4:120059391..120062207-chr4:120131058..120133617,2	MCF-7	breast:
10	chr4:120138762..120140367-chr4:120140533..120142369,2	K562	blood:
11	chr4:120105848..120109387-chr4:120131964..120134946,3	MCF-7	breast:
12	chr4:120001166..120004043-chr4:120014693..120016511,3	MCF-7	breast:
13	chr4:119989699..119991632-chr4:120032879..120034725,2	MCF-7	breast:
14	chr4:120132610..120134570-chr4:120221091..120222996,2	MCF-7	breast:
15	chr4:120096520..120098803-chr4:120098872..120101479,2	K562	blood:
16	chr1:149857991..149858865-chr4:120133698..120134306,2	Hela-S3	cervix:
17	chr4:120033922..120036234-chr4:120037431..120039972,2	K562	blood:
18	chr11:62572491..62573213-chr4:120133328..120134306,3	HCT-116	colon:
19	chr4:119967207..119969277-chr4:120017510..120021674,3	MCF-7	breast:
20	chr4:120100153..120102490-chr4:120128940..120130617,2	MCF-7	breast:
21	chr4:120132983..120134127-chr5:40834940..40835540,3	Hela-S3	cervix:
22	chr17:1302981..1303704-chr4:120134534..120135101,2	Hela-S3	cervix:
23	chr4:120125730..120127541-chr4:120130330..120131994,2	MCF-7	breast:
24	chr4:120060909..120063531-chr4:120066181..120067927,2	MCF-7	breast:
25	chr4:120026501..120028052-chr4:120132868..120134580,2	MCF-7	breast:
26	chr2:237076560..237077378-chr4:120133405..120134232,2	HCT-116	colon:
27	chr4:119973763..119975718-chr4:120117214..120120157,2	MCF-7	breast:
28	chr17:26926109..26926670-chr4:120133824..120134331,2	NB4	blood:
29	chr4:120060171..120063563-chr4:120128883..120130877,3	MCF-7	breast:
30	chr3:52273199..52273773-chr4:120133265..120133955,2	NB4	blood:
31	chr4:120133051..120135487-chr4:120141278..120144342,3	MCF-7	breast:
32	chr4:120018111..120021033-chr4:120132660..120135354,3	MCF-7	breast:
33	chr4:120021974..120023552-chr4:120133050..120134987,2	MCF-7	breast:
34	chr4:120013479..120014990-chr4:120129629..120131701,2	MCF-7	breast:
35	chr4:120032730..120035461-chr4:120133316..120136122,2	MCF-7	breast:
36	chr4:119988837..119992890-chr4:120132998..120134761,3	MCF-7	breast:
37	chr4:120107053..120109251-chr4:120131734..120133629,2	MCF-7	breast:
38	chr4:120013479..120014990-chr4:120129629..120131701,2	MCF-7	breast:
39	chr4:120109943..120112104-chr4:120116524..120118250,2	MCF-7	breast:
40	chr4:120132319..120136069-chr4:120219720..120222326,6	MCF-7	breast:
41	chr4:120133408..120135615-chr4:120143734..120145837,2	MCF-7	breast:
42	chr4:120125197..120131905-chr4:120131994..120135569,17	K562	blood:
43	chr4:120136077..120139007-chr4:120191556..120193518,2	K562	blood:
44	chr4:119959493..119961509-chr4:120134410..120137217,2	MCF-7	breast:
45	chr21:27542699..27543375-chr4:120133383..120134375,2	HCT-116	colon:
46	chr4:120130951..120136158-chr4:120218006..120223072,8	K562	blood:
47	chr4:120125730..120127541-chr4:120130330..120131994,2	MCF-7	breast:
48	chr4:120014220..120018464-chr4:120020403..120024000,3	MCF-7	breast:
49	chr4:119903589..119905538-chr4:120130770..120132703,2	MCF-7	breast:
50	chr12:52444388..52445647-chr4:120133689..120134398,3	Hela-S3	cervix:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-455G16.1.1-1	chr4:120038634-120039855	XLOC_004054
2	lnc-USP53-1	chr4:120138705-120138828	NONHSAT098037
3	lnc-RP11-455G16.1.1-1	chr4:120040688-120040847	XLOC_004054
4	lnc-USP53-1	chr4:120138705-120138828	NONHSAT098038
5	lnc-RP11-455G16.1.1-1	chr4:120042792-120043419	XLOC_004054
6	lnc-RP11-455G16.1.1-3	chr4:120114843-120115546	NONHSAT098035
7	lnc-USP53-1	chr4:120135225-120135377	NONHSAT098039
8	lnc-USP53-1	chr4:120133896-120134028	NONHSAT098037
9	lnc-RP11-455G16.1.1-1	chr4:120040688-120040908	XLOC_004054
10	lnc-RP11-455G16.1.1-3	chr4:120133682-120133799	NONHSAT098035
11	lnc-RP11-455G16.1.1-3	chr4:120116548-120116723	NONHSAT098035
12	lnc-USP53-1	chr4:120134334-120134373	NONHSAT098039
13	lnc-RP11-455G16.1.1-1	chr4:120040678-120040984	XLOC_004054
14	lnc-USP53-1	chr4:120133742-120134028	NONHSAT098036
15	lnc-USP53-1	chr4:120141271-120141366	NONHSAT098038
16	lnc-USP53-1	chr4:120133898-120134028	NONHSAT098038
17	lnc-USP53-1	chr4:120138705-120138828	NONHSAT098039
18	lnc-USP53-1	chr4:120138705-120142650	NONHSAT098036
19	lnc-RP11-455G16.1.1-1	chr4:120049353-120049505	XLOC_004054
20	lnc-RP11-455G16.1.1-1	chr4:120040688-120040847	XLOC_004054
21	lnc-RP11-455G16.1.1-1	chr4:120038634-120039855	XLOC_004054
22	lnc-RP11-455G16.1.1-1	chr4:120049353-120049505	XLOC_004054
23	lnc-RP11-455G16.1.1-1	chr4:120038634-120039855	XLOC_004054
24	lnc-RP11-455G16.1.1-1	chr4:120040688-120040990	XLOC_004054
25	lnc-RP11-455G16.1.1-1	chr4:120038634-120039855	XLOC_004054
26	lnc-USP53-1	chr4:120135225-120135377	NONHSAT098038
27	lnc-RP11-455G16.1.1-1	chr4:120043362-120043513	XLOC_004054

No data

Variant related genes	Relation type
ENSG00000178636	TF binding region
MYOZ2	TF binding region
USP53	TF binding region
ENSG00000178636	CpG island
MYOZ2	CpG island
USP53	CpG island
ENSG00000184678	chromatin interactions
ENSG00000204599	chromatin interactions
ENSG00000234222	chromatin interactions
ENSG00000168505	chromatin interactions
ENSG00000246308	chromatin interactions
ENSG00000155115	chromatin interactions
ENSG00000248925	chromatin interactions
ENSG00000150961	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000164096	chromatin interactions
ENSG00000240230	chromatin interactions
ENSG00000131795	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000163399	chromatin interactions
ENSG00000164109	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000231074	chromatin interactions
ENSG00000250938	chromatin interactions
ENSG00000227543	chromatin interactions
ENSG00000178636	chromatin interactions
ENSG00000273492	chromatin interactions
ENSG00000076382	chromatin interactions
ENSG00000249356	chromatin interactions
ENSG00000225230	chromatin interactions
ENSG00000108953	chromatin interactions
ENSG00000243224	chromatin interactions
ENSG00000135316	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000134243	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000247596	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000142192	chromatin interactions
ENSG00000249915	chromatin interactions
ENSG00000136518	chromatin interactions
BCL2L11	miRNA target sites

Extended variants
information (count: 5041 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5041 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1459065	chr4:120007950-120007951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531041833	chr4:120008038-120008039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549672129	chr4:120008043-120008044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569891086	chr4:120008081-120008082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75266435	chr4:120008147-120008148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552486181	chr4:120008148-120008149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7441142	chr4:120008227-120008228	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs534321621	chr4:120008266-120008267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554554334	chr4:120008270-120008271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10222712	chr4:120008282-120008283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186571113	chr4:120008288-120008289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577006944	chr4:120008292-120008293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546027115	chr4:120008344-120008345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559615336	chr4:120008349-120008350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573483001	chr4:120008365-120008366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541815767	chr4:120008368-120008369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7692209	chr4:120008376-120008377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530878375	chr4:120008399-120008400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551034410	chr4:120008423-120008424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564607732	chr4:120008481-120008482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7692440	chr4:120008490-120008491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552449130	chr4:120008510-120008511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191756504	chr4:120008530-120008531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534928464	chr4:120008533-120008534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7670862	chr4:120008569-120008570	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544201532	chr4:120008579-120008580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79855681	chr4:120008592-120008593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536682650	chr4:120008654-120008655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7671172	chr4:120008683-120008684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182367632	chr4:120008684-120008685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7693307	chr4:120008693-120008694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7693344	chr4:120008743-120008744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573422499	chr4:120008792-120008793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7693205	chr4:120008831-120008832	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs72671693	chr4:120008837-120008838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575581300	chr4:120008838-120008839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187956617	chr4:120008904-120008905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143937447	chr4:120008957-120008958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139251617	chr4:120009004-120009005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545981002	chr4:120009024-120009025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559604179	chr4:120009033-120009034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193193371	chr4:120009057-120009058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10857063	chr4:120009062-120009063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531671790	chr4:120009089-120009090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548449082	chr4:120009096-120009097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551793040	chr4:120009105-120009106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79839946	chr4:120009112-120009113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11732628	chr4:120009147-120009148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs550162117	chr4:120009156-120009157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10857064	chr4:120009168-120009169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2053 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120002800-120008000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:120003400-120014200	Weak transcription	Left Ventricle	heart
3	chr4:120003400-120014400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:120003600-120008000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:120003600-120014600	Weak transcription	Right Atrium	heart
6	chr4:120004200-120013200	Weak transcription	HepG2	liver
7	chr4:120007000-120009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:120007400-120009200	Enhancers	Stomach Mucosa	stomach
9	chr4:120007800-120008200	Enhancers	Colon Smooth Muscle	Colon
10	chr4:120007800-120008600	Enhancers	Fetal Heart	heart
11	chr4:120007800-120009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:120007800-120009000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:120007800-120009200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:120007800-120009400	Enhancers	A549	lung
15	chr4:120008000-120009000	Enhancers	Fetal Intestine Small	intestine
16	chr4:120008000-120009200	Enhancers	Fetal Intestine Large	intestine
17	chr4:120008600-120009200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:120008600-120009400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:120008600-120009400	Enhancers	NHEK	skin
20	chr4:120009000-120009200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:120009000-120017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:120009200-120013000	Weak transcription	Stomach Mucosa	stomach
23	chr4:120009200-120014200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:120009200-120014200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:120009200-120019000	Weak transcription	Fetal Intestine Large	intestine
26	chr4:120009400-120014400	Weak transcription	NHEK	skin
27	chr4:120009400-120014600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:120012400-120013600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:120012600-120013000	Enhancers	Psoas Muscle	Psoas
30	chr4:120012800-120013200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:120012800-120013600	Enhancers	Pancreas	Pancrea
32	chr4:120013000-120015400	Enhancers	Stomach Mucosa	stomach
33	chr4:120013200-120013400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:120013200-120013400	Weak transcription	A549	lung
35	chr4:120013200-120014400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:120013200-120015200	Enhancers	HepG2	liver
37	chr4:120013400-120013600	Enhancers	A549	lung
38	chr4:120013400-120014600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:120013600-120014000	Weak transcription	Pancreas	Pancrea
40	chr4:120013600-120014200	Weak transcription	A549	lung
41	chr4:120014000-120015000	Enhancers	Pancreas	Pancrea
42	chr4:120014200-120014400	Enhancers	Left Ventricle	heart
43	chr4:120014200-120014400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr4:120014200-120014400	Enhancers	A549	lung
45	chr4:120014200-120014600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:120014200-120015000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:120014200-120016000	Enhancers	HUVEC	blood vessel
48	chr4:120014400-120014800	Weak transcription	Left Ventricle	heart
49	chr4:120014400-120014800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr4:120014400-120014800	Enhancers	NHEK	skin

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