Variant report

Variant	esv1849799
Chromosome Location	chr4:103787351-103881772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:968)
CpG islands
(count:549)
Chromatin interactive
region (count:55)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:103792647-103792693	K562	blood:	n/a	n/a
2	ARID3A	chr4:103789864-103790082	HepG2	liver:	n/a	chr4:103790068-103790080
3	ARID3A	chr4:103792150-103792270	K562	blood:	n/a	n/a
4	ARID3A	chr4:103804800-103804839	K562	blood:	n/a	n/a
5	ARID3A	chr4:103792913-103793227	K562	blood:	n/a	n/a
6	ARID3A	chr4:103790313-103791322	K562	blood:	n/a	n/a
7	ARID3A	chr4:103800935-103801072	HepG2	liver:	n/a	n/a
8	ARID3A	chr4:103789872-103790088	K562	blood:	n/a	chr4:103790068-103790080
9	ARID3A	chr4:103790439-103791277	HepG2	liver:	n/a	n/a
10	ATF1	chr4:103789769-103790888	K562	blood:	n/a	n/a
11	ATF2	chr4:103789739-103790136	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:103789692-103791226	GM12878	blood:	n/a	n/a
13	ATF2	chr4:103790357-103790663	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr4:103789531-103791034	GM12878	blood:	n/a	n/a
15	ATF2	chr4:103790165-103790719	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr4:103789508-103790225	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr4:103790287-103790607	K562	blood:	n/a	chr4:103790479-103790488 chr4:103790481-103790490 chr4:103790449-103790469
18	ATF3	chr4:103790112-103790670	GM12878	blood:	n/a	chr4:103790479-103790488 chr4:103790481-103790490 chr4:103790449-103790469
19	ATF3	chr4:103790308-103790490	GM12878	blood:	n/a	chr4:103790479-103790488 chr4:103790481-103790490 chr4:103790449-103790469
20	BACH1	chr4:103792938-103793120	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr4:103792866-103793229	K562	blood:	n/a	n/a
22	BACH1	chr4:103789839-103790039	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr4:103823033-103823354	GM12878	blood:	n/a	n/a
24	BCLAF1	chr4:103789522-103790938	GM12878	blood:	n/a	chr4:103789561-103789570 chr4:103790925-103790938 chr4:103790183-103790196
25	BCLAF1	chr4:103788658-103789175	GM12878	blood:	n/a	n/a
26	BCLAF1	chr4:103789643-103790896	GM12878	blood:	n/a	chr4:103790183-103790196
27	BHLHE40	chr4:103793001-103793168	K562	blood:	n/a	n/a
28	BHLHE40	chr4:103789732-103790982	K562	blood:	n/a	chr4:103790449-103790458 chr4:103790923-103790939 chr4:103790447-103790460 chr4:103790449-103790458 chr4:103790167-103790183 chr4:103790448-103790457
29	BHLHE40	chr4:103790262-103790847	A549	lung:	n/a	chr4:103790449-103790458 chr4:103790447-103790460 chr4:103790449-103790458 chr4:103790448-103790457
30	BHLHE40	chr4:103789639-103791119	HepG2	liver:	n/a	chr4:103790449-103790458 chr4:103790923-103790939 chr4:103790447-103790460 chr4:103790449-103790458 chr4:103790167-103790183 chr4:103790448-103790457
31	BHLHE40	chr4:103790296-103790569	HepG2	liver:	n/a	chr4:103790449-103790458 chr4:103790447-103790460 chr4:103790449-103790458 chr4:103790448-103790457
32	BHLHE40	chr4:103788684-103788738	GM12878	blood:	n/a	n/a
33	BHLHE40	chr4:103790160-103790653	HepG2	liver:	n/a	chr4:103790449-103790458 chr4:103790447-103790460 chr4:103790449-103790458 chr4:103790167-103790183 chr4:103790448-103790457
34	BHLHE40	chr4:103789520-103791008	GM12878	blood:	n/a	chr4:103790449-103790458 chr4:103790923-103790939 chr4:103790447-103790460 chr4:103790449-103790458 chr4:103790167-103790183 chr4:103790448-103790457
35	BHLHE40	chr4:103792088-103792224	K562	blood:	n/a	n/a
36	BRCA1	chr4:103789872-103790671	GM12878	blood:	n/a	n/a
37	BRCA1	chr4:103789829-103790690	H1-hESC	embryonic stem cell:	n/a	n/a
38	BRCA1	chr4:103789863-103790674	HepG2	liver:	n/a	n/a
39	BRCA1	chr4:103789840-103791199	Hela-S3	cervix:	n/a	n/a
40	CBX3	chr4:103798566-103799207	K562	blood:	n/a	n/a
41	CBX3	chr4:103798436-103799283	K562	blood:	n/a	n/a
42	CBX3	chr4:103836093-103836257	K562	blood:	n/a	n/a
43	CBX3	chr4:103789717-103790091	K562	blood:	n/a	n/a
44	CBX3	chr4:103790118-103790484	K562	blood:	n/a	n/a
45	CBX3	chr4:103790521-103790933	K562	blood:	n/a	n/a
46	CBX3	chr4:103789652-103790994	K562	blood:	n/a	n/a
47	CCNT2	chr4:103789844-103791367	K562	blood:	n/a	n/a
48	CEBPB	chr4:103799492-103799789	IMR90	lung:	n/a	chr4:103799600-103799611
49	CEBPB	chr4:103799426-103799878	HepG2	liver:	n/a	chr4:103799600-103799611
50	CEBPB	chr4:103834352-103834604	K562	blood:	n/a	chr4:103834541-103834554 chr4:103834540-103834557

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:103867628-103867678	ProgFib	skin:	n/a
2	chr4:103790509-103790559	Hepatocyte	liver:	n/a
3	chr4:103790325-103790375	LNCaP	prostate:	n/a
4	chr4:103789516-103789566	NHBE	bronchial:	n/a
5	chr4:103790056-103790106	ECC-1	luminal epithelium:	n/a
6	chr4:103790509-103790559	HepG2	liver:	n/a
7	chr4:103790571-103790621	A549	lung:	n/a
8	chr4:103790056-103790106	GM12891	blood:	n/a
9	chr4:103790509-103790559	HPAEpiC	pulmonary alveolar:	n/a
10	chr4:103790509-103790559	BJ	skin:	n/a
11	chr4:103790571-103790621	HEEpiC	esophagus:	n/a
12	chr4:103789516-103789566	MCF-7	breast:	n/a
13	chr4:103790325-103790375	HEEpiC	esophagus:	n/a
14	chr4:103789962-103790012	HRE	kidney:	n/a
15	chr4:103789516-103789566	AG04450	lung:	fetal
16	chr4:103789962-103790012	CMK	blood:	n/a
17	chr4:103790299-103790349	LNCaP	prostate:	n/a
18	chr4:103790509-103790559	CMK	blood:	n/a
19	chr4:103790056-103790106	GM19239	blood:	n/a
20	chr4:103789516-103789566	SK-N-SH	brain:	n/a
21	chr4:103789962-103790012	NHDF-neo	bronchial:	n/a
22	chr4:103790056-103790106	HCPEpiC	choroid plexus:	n/a
23	chr4:103789962-103790012	HMEC	breast:	n/a
24	chr4:103790325-103790375	HUVEC	blood vessel:	n/a
25	chr4:103790571-103790621	BJ	skin:	n/a
26	chr4:103789962-103790012	HEK293	kidney:	embryo
27	chr4:103867628-103867678	CMK	blood:	n/a
28	chr4:103790056-103790106	BE2_C	brain:	n/a
29	chr4:103790299-103790349	HEK293	kidney:	embryo
30	chr4:103867628-103867678	HL-60	blood:	n/a
31	chr4:103790299-103790349	HCPEpiC	choroid plexus:	n/a
32	chr4:103789516-103789566	HCPEpiC	choroid plexus:	n/a
33	chr4:103789962-103790012	H1-hESC	embryonic stem cell:	embryo
34	chr4:103790325-103790375	HepG2	liver:	n/a
35	chr4:103789962-103790012	AG04450	lung:	fetal
36	chr4:103789592-103789642	MCF10A-Er-Src	breast:	n/a
37	chr4:103790056-103790106	IMR90	lung:	fetal
38	chr4:103790325-103790375	Jurkat	blood:	n/a
39	chr4:103867628-103867678	NHDF-neo	bronchial:	n/a
40	chr4:103790571-103790621	HCF	heart:	n/a
41	chr4:103790056-103790106	LNCaP	prostate:	n/a
42	chr4:103867628-103867678	ovcar-3	ovarian:	n/a
43	chr4:103867628-103867678	MCF-7	breast:	n/a
44	chr4:103789516-103789566	HepG2	liver:	n/a
45	chr4:103789962-103790012	HepG2	liver:	n/a
46	chr4:103789592-103789642	HCM	heart:	n/a
47	chr4:103790299-103790349	HRCEpiC	kidney:	n/a
48	chr4:103790509-103790559	MCF10A-Er-Src	breast:	n/a
49	chr4:103790571-103790621	HCPEpiC	choroid plexus:	n/a
50	chr4:103790571-103790621	Caco-2	colon:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:103775426..103778667-chr4:103788378..103789993,3	MCF-7	breast:
2	chr2:20101039..20101818-chr4:103790051..103790670,2	Hela-S3	cervix:
3	chr4:103791034..103792845-chr4:103804270..103806826,2	K562	blood:
4	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
5	chr4:103713400..103715221-chr4:103814511..103816662,2	K562	blood:
6	chr4:103791034..103792845-chr4:103804270..103806826,2	K562	blood:
7	chr4:103802810..103805581-chr4:103812817..103815542,2	K562	blood:
8	chr4:103758456..103761441-chr4:103792692..103794665,2	K562	blood:
9	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
10	chr4:103727572..103730495-chr4:103786922..103788552,2	MCF-7	breast:
11	chr11:65266418..65266967-chr4:103790425..103791246,2	Hela-S3	cervix:
12	chr4:103790073..103790585-chr6:26056049..26056795,2	NB4	blood:
13	chr4:103790135..103792600-chr4:103794953..103797636,4	MCF-7	breast:
14	chr4:103789875..103791593-chr4:103798432..103800805,2	MCF-7	breast:
15	chr4:103792090..103794720-chr4:103796684..103798750,2	K562	blood:
16	chr4:103801030..103803497-chr4:103805639..103808341,2	K562	blood:
17	chr4:103421575..103424271-chr4:103788743..103790943,2	K562	blood:
18	chr4:103757981..103760210-chr4:103788779..103792058,4	MCF-7	breast:
19	chr10:65280457..65281194-chr4:103789505..103790213,2	HCT-116	colon:
20	chr4:103795111..103797897-chr4:103800185..103803002,2	K562	blood:
21	chr4:103802810..103805581-chr4:103812817..103815542,2	K562	blood:
22	chr12:56511434..56512133-chr4:103789790..103790304,2	Hela-S3	cervix:
23	chr4:103801030..103803497-chr4:103805639..103808341,2	K562	blood:
24	chr4:103789314..103790931-chr4:103800188..103802693,2	K562	blood:
25	chr4:103790029..103792721-chr4:103804563..103806483,2	MCF-7	breast:
26	chr21:40751768..40752544-chr4:103789675..103790558,3	Hela-S3	cervix:
27	chr4:103876539..103878072-chr4:103939783..103942187,2	K562	blood:
28	chr4:103746553..103755574-chr4:103787108..103794302,29	MCF-7	breast:
29	chr4:103770498..103773178-chr4:103786218..103788263,2	K562	blood:
30	chr4:103745482..103752084-chr4:103788371..103792114,20	MCF-7	breast:
31	chr4:103746824..103748536-chr4:103800625..103803616,3	K562	blood:
32	chr4:103420801..103422713-chr4:103788549..103790211,2	MCF-7	breast:
33	chr4:103746466..103749555-chr4:103796408..103800976,4	K562	blood:
34	chr4:103749258..103750005-chr4:103790000..103790583,2	Hela-S3	cervix:
35	chr4:103782723..103785636-chr4:103787155..103789919,2	MCF-7	breast:
36	chr12:65002574..65003271-chr4:103789942..103790730,2	Hela-S3	cervix:
37	chr4:103747662..103750581-chr4:103808763..103811614,2	K562	blood:
38	chr4:103747946..103751403-chr4:103826007..103829702,3	K562	blood:
39	chr4:100869430..100871433-chr4:103792191..103794133,2	K562	blood:
40	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
41	chr4:103747935..103749523-chr4:103797969..103799528,2	MCF-7	breast:
42	chr4:103795111..103797897-chr4:103800185..103803002,2	K562	blood:
43	chr4:103742789..103744562-chr4:103800486..103802879,2	MCF-7	breast:
44	chr4:103789854..103790660-chr7:139026073..139026575,2	NB4	blood:
45	chr14:50087078..50087748-chr4:103790097..103790729,2	HCT-116	colon:
46	chr4:103679565..103681940-chr4:103791638..103794371,2	K562	blood:
47	chr4:103789205..103791017-chr4:103995982..103997960,2	K562	blood:
48	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
49	chr4:103782734..103784847-chr4:103785870..103787705,2	MCF-7	breast:
50	chr4:103788356..103790737-chr4:103795303..103797509,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC9B2-1	chr4:103806209-103806446	NONHSAT097615
2	lnc-SLC9B2-1	chr4:103827693-103827801	NR_047515
3	lnc-SLC9B2-1	chr4:103806205-103806446	NR_047515
4	lnc-SLC9B2-1	chr4:103826671-103826807	NR_047515
5	lnc-SLC9B2-1	chr4:103832588-103832694	NR_047515
6	lnc-SLC9B2-1	chr4:103833165-103833286	NR_047515
7	lnc-SLC9B2-1	chr4:103831596-103831745	NR_047515
8	lnc-CISD2-6	chr4:103817882-103819394	NONHSAT097617
9	lnc-SLC9B2-1	chr4:103853281-103853456	NR_047515
10	lnc-SLC9B2-1	chr4:103811738-103811830	NR_047515
11	lnc-SLC9B2-1	chr4:103806209-103806446	NONHSAT097616
12	lnc-SLC9B2-1	chr4:103833165-103833286	NONHSAT097615

No data

Variant related genes	Relation type
CISD2	TF binding region
UBE2D3	TF binding region
ACTR3BP4	TF binding region
PABPC1P7	TF binding region
SLC9B1	TF binding region
CISD2	CpG island
UBE2D3	CpG island
ACTR3BP4	CpG island
PABPC1P7	CpG island
SLC9B1	CpG island
ENSG00000256670	chromatin interactions
ENSG00000183891	chromatin interactions
ENSG00000164038	chromatin interactions
ENSG00000165476	chromatin interactions
ENSG00000269955	chromatin interactions
ENSG00000260651	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000165502	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000249884	chromatin interactions
ENSG00000182093	chromatin interactions
ENSG00000271991	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000168282	chromatin interactions
ENSG00000252739	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000164037	chromatin interactions
ENSG00000145354	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000239305	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000109320	chromatin interactions
ENSG00000245322	chromatin interactions

Extended variants
information (count: 2787 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2787 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548829347	chr4:103787361-103787362	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs567244482	chr4:103787467-103787468	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs187363472	chr4:103787476-103787477	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs546398491	chr4:103787492-103787493	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs192086517	chr4:103787529-103787530	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376746243	chr4:103787541-103787542	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs538754909	chr4:103787568-103787569	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs181464386	chr4:103787627-103787628	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575144591	chr4:103787706-103787707	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs536276661	chr4:103787707-103787708	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs149977257	chr4:103787719-103787720	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs145126629	chr4:103787722-103787723	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113071172	chr4:103787725-103787726	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs185759231	chr4:103787728-103787729	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs560032438	chr4:103787782-103787783	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs540122759	chr4:103787801-103787802	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs149108667	chr4:103787804-103787805	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs76084986	chr4:103787840-103787841	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs545516076	chr4:103787872-103787873	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs190566182	chr4:103787891-103787892	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs76615603	chr4:103787924-103787925	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs369865779	chr4:103787937-103787938	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372193990	chr4:103788066-103788067	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs548968626	chr4:103788080-103788081	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs560809096	chr4:103788088-103788089	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs528416471	chr4:103788155-103788156	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113618270	chr4:103788202-103788203	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs559720525	chr4:103788203-103788204	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs223334	chr4:103788211-103788212	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs182396678	chr4:103788243-103788244	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs144824940	chr4:103788270-103788271	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186354368	chr4:103788455-103788456	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs547201833	chr4:103788472-103788473	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs191012455	chr4:103788593-103788594	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs113368206	chr4:103788739-103788740	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs146712590	chr4:103788763-103788764	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs554649354	chr4:103788829-103788830	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs566989345	chr4:103788845-103788846	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs574380951	chr4:103788850-103788851	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs377447980	chr4:103788886-103788887	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs376973780	chr4:103788950-103788951	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs370219517	chr4:103788951-103788952	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs75083634	chr4:103789004-103789005	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs553273049	chr4:103789010-103789011	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs148131040	chr4:103789059-103789060	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs578096484	chr4:103789067-103789068	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs545292670	chr4:103789129-103789130	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs115071252	chr4:103789144-103789145	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs28379152	chr4:103789150-103789151	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs575344315	chr4:103789154-103789155	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103750800-103788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:103765400-103788800	Weak transcription	Left Ventricle	heart
3	chr4:103779000-103787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:103780000-103788000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:103780200-103789200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:103780400-103788800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:103780800-103788000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:103781000-103788800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:103781000-103789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:103781200-103788600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:103781800-103788000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:103781800-103789600	Weak transcription	Fetal Brain Male	brain
13	chr4:103782000-103788000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:103782200-103788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:103782200-103788600	Weak transcription	Fetal Thymus	thymus
16	chr4:103782200-103788800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:103782200-103788800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:103782400-103788800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:103782400-103788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:103782400-103788800	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:103782400-103789200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:103782400-103789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:103782600-103788400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:103782600-103789000	Weak transcription	Fetal Stomach	stomach
25	chr4:103783400-103788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:103784000-103788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:103784000-103788800	Weak transcription	Primary B cells from cord blood	blood
28	chr4:103784200-103788600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:103784400-103788800	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:103784600-103788800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr4:103784800-103788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:103785200-103789000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:103785600-103788600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:103785600-103788800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:103785800-103788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:103785800-103789000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr4:103786200-103787800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr4:103786200-103788800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:103786400-103788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:103786400-103788600	Weak transcription	Liver	Liver
41	chr4:103786600-103788400	Enhancers	HepG2	liver
42	chr4:103786600-103788800	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:103786800-103787600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:103786800-103789000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr4:103787000-103787400	Enhancers	Dnd41	blood
46	chr4:103787000-103787600	Flanking Active TSS	GM12878-XiMat	blood
47	chr4:103787000-103787800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:103787000-103788000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:103787200-103787400	Active TSS	K562	blood
50	chr4:103787200-103788800	Enhancers	Primary T cells from cord blood	blood

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