Variant report

Variant	nsv3811
Chromosome Location	chr3:48599180-48643809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1078)
CpG islands
(count:1894)
Chromatin interactive
region (count:74)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:4)

(count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr3:48632859-48633239	A549	lung:	n/a	n/a
2	ATF3	chr3:48632750-48633419	A549	lung:	n/a	chr3:48633360-48633374
3	ATF3	chr3:48632846-48633268	K562	blood:	n/a	n/a
4	ATF3	chr3:48632966-48633182	K562	blood:	n/a	n/a
5	BACH1	chr3:48633767-48633772	K562	blood:	n/a	n/a
6	BATF	chr3:48598875-48599182	GM12878	blood:	n/a	chr3:48599007-48599018 chr3:48599008-48599018
7	BCL3	chr3:48632541-48633833	A549	lung:	n/a	chr3:48632723-48632736 chr3:48632774-48632783 chr3:48632719-48632728 chr3:48632713-48632726 chr3:48632722-48632731 chr3:48632911-48632920 chr3:48632716-48632729
8	BCL3	chr3:48632514-48633753	A549	lung:	n/a	chr3:48632723-48632736 chr3:48632774-48632783 chr3:48632719-48632728 chr3:48632713-48632726 chr3:48632722-48632731 chr3:48632911-48632920 chr3:48632716-48632729
9	BCL3	chr3:48631777-48632288	A549	lung:	n/a	n/a
10	BHLHE40	chr3:48633034-48633439	K562	blood:	n/a	n/a
11	BHLHE40	chr3:48602902-48603103	K562	blood:	n/a	n/a
12	BHLHE40	chr3:48601552-48601920	HepG2	liver:	n/a	n/a
13	BHLHE40	chr3:48601564-48601883	K562	blood:	n/a	n/a
14	BHLHE40	chr3:48601507-48601933	GM12878	blood:	n/a	n/a
15	BRCA1	chr3:48631739-48632050	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr3:48632885-48633452	Hela-S3	cervix:	n/a	n/a
17	CCNT2	chr3:48632998-48633261	K562	blood:	n/a	chr3:48633063-48633072
18	CEBPB	chr3:48601507-48601684	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr3:48631911-48632208	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr3:48632844-48633710	A549	lung:	n/a	n/a
21	CEBPB	chr3:48633214-48633534	A549	lung:	n/a	n/a
22	CEBPB	chr3:48601439-48601758	IMR90	lung:	n/a	n/a
23	CEBPB	chr3:48632610-48633580	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr3:48601614-48601799	GM12878	blood:	n/a	n/a
25	CHD2	chr3:48631920-48632111	HepG2	liver:	n/a	chr3:48631984-48631994
26	CHD2	chr3:48634819-48634885	HepG2	liver:	n/a	n/a
27	CHD2	chr3:48601546-48601641	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr3:48634157-48634658	K562	blood:	n/a	n/a
29	CHD2	chr3:48633763-48633801	K562	blood:	n/a	n/a
30	CHD2	chr3:48633022-48633148	K562	blood:	n/a	n/a
31	CHD2	chr3:48631743-48633716	Hela-S3	cervix:	n/a	chr3:48631984-48631994
32	CHD2	chr3:48635323-48635334	K562	blood:	n/a	n/a
33	CREB1	chr3:48635867-48636039	A549	lung:	n/a	n/a
34	CREB1	chr3:48635736-48636422	A549	lung:	n/a	n/a
35	CREB1	chr3:48632499-48633565	A549	lung:	n/a	n/a
36	CREB1	chr3:48632769-48632996	A549	lung:	n/a	n/a
37	CTCF	chr3:48600883-48601006	K562	blood:	n/a	n/a
38	CTCF	chr3:48619658-48619824	K562	blood:	n/a	n/a
39	CTCF	chr3:48600820-48600970	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr3:48635980-48636130	HBMEC	blood vessel:	n/a	chr3:48636059-48636077 chr3:48636061-48636082 chr3:48636064-48636074 chr3:48636062-48636071
41	CTCF	chr3:48631900-48632050	HMEC	breast:	n/a	n/a
42	CTCF	chr3:48636080-48636230	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr3:48600900-48601050	AG09309	skin:	n/a	n/a
44	CTCF	chr3:48612040-48612190	GM12873	blood:	n/a	n/a
45	CTCF	chr3:48635960-48636110	HRE	kidney:	n/a	chr3:48636059-48636077 chr3:48636061-48636082 chr3:48636064-48636074 chr3:48636062-48636071
46	CTCF	chr3:48635920-48636070	BJ	skin:	n/a	n/a
47	CTCF	chr3:48600840-48600990	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr3:48600960-48601110	HCM	heart:	n/a	n/a
49	CTCF	chr3:48636040-48636190	A549	lung:	n/a	chr3:48636059-48636077 chr3:48636061-48636082 chr3:48636064-48636074 chr3:48636062-48636071
50	CTCF	chr3:48629788-48629881	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48632892-48632942	RPTEC	kidney:	n/a
2	chr3:48633059-48633109	T-47D	breast:	n/a
3	chr3:48632723-48632773	SAEC	small airway:	n/a
4	chr3:48632892-48632942	RPTEC	kidney:	n/a
5	chr3:48633059-48633109	T-47D	breast:	n/a
6	chr3:48632723-48632773	SAEC	small airway:	n/a
7	chr3:48631958-48632008	ECC-1	luminal epithelium:	n/a
8	chr3:48633144-48633194	AG04450	lung:	fetal
9	chr3:48603978-48604028	NHDF-neo	bronchial:	n/a
10	chr3:48617083-48617133	Hepatocyte	liver:	n/a
11	chr3:48636487-48636537	HNPCEpiC	eye:	n/a
12	chr3:48600317-48600367	HNPCEpiC	eye:	n/a
13	chr3:48615932-48615982	NHBE	bronchial:	n/a
14	chr3:48632484-48632534	HAEpiC	amniotic membrane:	n/a
15	chr3:48630540-48630590	SK-N-SH_RA	brain:	n/a
16	chr3:48632778-48632828	PANC-1	pancreas:	n/a
17	chr3:48636487-48636537	HL-60	blood:	n/a
18	chr3:48603978-48604028	GM19239	blood:	n/a
19	chr3:48632892-48632942	MCF10A-Er-Src	breast:	n/a
20	chr3:48630540-48630590	NB4	blood:	n/a
21	chr3:48601902-48601952	HCM	heart:	n/a
22	chr3:48600317-48600367	HAEpiC	amniotic membrane:	n/a
23	chr3:48601585-48601635	SK-N-SH	brain:	n/a
24	chr3:48632484-48632534	HRCEpiC	kidney:	n/a
25	chr3:48632484-48632534	HCPEpiC	choroid plexus:	n/a
26	chr3:48616351-48616401	AG04449	skin:	fetal
27	chr3:48633059-48633109	Hela-S3	cervix:	n/a
28	chr3:48617067-48617117	HCF	heart:	n/a
29	chr3:48603978-48604028	HL-60	blood:	n/a
30	chr3:48603978-48604028	AG04450	lung:	fetal
31	chr3:48632484-48632534	HNPCEpiC	eye:	n/a
32	chr3:48630540-48630590	AoSMC	blood vessel:	n/a
33	chr3:48616351-48616401	ECC-1	luminal epithelium:	n/a
34	chr3:48632625-48632675	NHBE	bronchial:	n/a
35	chr3:48630540-48630590	Caco-2	colon:	n/a
36	chr3:48616351-48616401	AG09309	skin:	n/a
37	chr3:48632672-48632722	SK-N-SH_RA	brain:	n/a
38	chr3:48632892-48632942	HIPEpiC	eye:	n/a
39	chr3:48616534-48616584	HMEC	breast:	n/a
40	chr3:48632568-48632618	HPAEpiC	pulmonary alveolar:	n/a
41	chr3:48632892-48632942	HRPEpiC	eye:	n/a
42	chr3:48617880-48617930	HRE	kidney:	n/a
43	chr3:48601585-48601635	PANC-1	pancreas:	n/a
44	chr3:48601585-48601635	AG09319	gingival:	n/a
45	chr3:48617880-48617930	NB4	blood:	n/a
46	chr3:48601117-48601167	AG10803	skin:	n/a
47	chr3:48601902-48601952	HepG2	liver:	n/a
48	chr3:48602040-48602090	Hepatocyte	liver:	n/a
49	chr3:48617880-48617930	GM12878	blood:	n/a
50	chr3:48632892-48632942	Jurkat	blood:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:48608865..48611269-chr3:48670330..48672389,2	K562	blood:
2	chr3:48600816..48601429-chr3:48647028..48647619,2	MCF-7	breast:
3	chr3:48603206..48606480-chr3:48608320..48612943,6	K562	blood:
4	chr3:48595024..48597915-chr3:48619806..48622273,2	K562	blood:
5	chr3:48592861..48595715-chr3:48598424..48603731,6	K562	blood:
6	chr3:48635113..48637147-chr3:48645892..48647731,2	MCF-7	breast:
7	chr3:48603206..48606480-chr3:48608320..48612943,6	K562	blood:
8	chr3:48601397..48603456-chr3:48607789..48610015,2	MCF-7	breast:
9	chr3:48639116..48644270-chr3:48645185..48648761,6	K562	blood:
10	chr3:48637721..48640479-chr3:48645220..48647782,4	MCF-7	breast:
11	chr3:48637650..48639338-chr3:48640052..48642052,2	MCF-7	breast:
12	chr3:48634266..48637382-chr3:48644809..48648389,6	MCF-7	breast:
13	chr3:48633338..48635832-chr3:48883442..48885792,2	K562	blood:
14	chr3:48617868..48620295-chr3:48645648..48648360,2	MCF-7	breast:
15	chr3:48633143..48634875-chr3:48635486..48637467,3	MCF-7	breast:
16	chr3:48634583..48638851-chr3:48666607..48670894,4	MCF-7	breast:
17	chr3:48598382..48600078-chr3:48601801..48604759,2	K562	blood:
18	chr3:48598893..48601513-chr3:48603815..48606240,3	MCF-7	breast:
19	chr3:48634135..48636192-chr3:48639915..48641521,2	MCF-7	breast:
20	chr3:48614996..48616945-chr3:48645477..48647232,2	K562	blood:
21	chr3:48598382..48600078-chr3:48601801..48604759,2	K562	blood:
22	chr3:48632939..48635012-chr3:48667249..48669292,2	MCF-7	breast:
23	chr3:48637650..48639338-chr3:48640052..48642052,2	MCF-7	breast:
24	chr3:48603858..48605827-chr3:48610178..48612000,2	MCF-7	breast:
25	chr3:48631939..48633856-chr3:48671693..48673580,2	K562	blood:
26	chr3:48598407..48599969-chr3:48607969..48610789,2	K562	blood:
27	chr3:48624465..48626090-chr3:48634843..48637573,2	K562	blood:
28	chr3:48609681..48612514-chr3:48673616..48675208,2	K562	blood:
29	chr3:48631022..48632850-chr3:49066153..49068061,2	K562	blood:
30	chr3:48641673..48644998-chr3:48670911..48673807,4	K562	blood:
31	chr3:48485967..48488247-chr3:48600373..48602900,2	MCF-7	breast:
32	chr3:48624919..48627758-chr3:48629196..48631619,2	MCF-7	breast:
33	chr3:48630786..48632536-chr3:48658588..48660930,2	MCF-7	breast:
34	chr3:48639015..48641958-chr3:48642014..48643665,2	K562	blood:
35	chr3:48598893..48601513-chr3:48603815..48606240,3	MCF-7	breast:
36	chr3:48640950..48644386-chr3:48644481..48647187,5	MCF-7	breast:
37	chr3:48633143..48634875-chr3:48635486..48637467,3	MCF-7	breast:
38	chr3:48634983..48637282-chr3:48645577..48648771,3	K562	blood:
39	chr3:48633445..48635583-chr3:48697988..48700602,2	MCF-7	breast:
40	chr3:48595781..48598456-chr3:48600840..48603060,2	MCF-7	breast:
41	chr3:48631986..48633856-chr3:48672080..48674450,2	K562	blood:
42	chr3:48338306..48341103-chr3:48643663..48646394,2	K562	blood:
43	chr3:48627187..48630110-chr3:48631987..48634720,2	MCF-7	breast:
44	chr3:48608891..48611470-chr3:48623633..48625269,2	MCF-7	breast:
45	chr3:48595568..48597473-chr3:48598401..48600580,2	MCF-7	breast:
46	chr3:48624465..48626090-chr3:48634843..48637573,2	K562	blood:
47	chr3:48628532..48631687-chr3:48699581..48702421,3	MCF-7	breast:
48	chr3:48643318..48645059-chr3:48645193..48646900,2	MCF-7	breast:
49	chr3:48639015..48641958-chr3:48642014..48643665,2	K562	blood:
50	chr3:48634045..48636244-chr3:48672323..48674117,3	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-711	chr3:48616347-48616368	MIMAT0012734

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	COL7A1	hsa-miR-29c-3p	chr3:48601548-48601542
2	COL7A1	hsa-miR-29c-3p	chr3:48601755-48601776
3	COL7A1	hsa-miR-29c-3p	chr3:48601761-48601754
4	COL7A1	hsa-miR-29c-3p	chr3:48601542-48601563

Variant related genes	Relation type
MIR711	TF binding region
UQCRC1	TF binding region
UCN2	TF binding region
COL7A1	TF binding region
PFKFB4	TF binding region
MIR711	CpG island
UQCRC1	CpG island
UCN2	CpG island
COL7A1	CpG island
PFKFB4	CpG island
ENSG00000183396	chromatin interactions
ENSG00000228350	chromatin interactions
ENSG00000225697	chromatin interactions
ENSG00000010256	chromatin interactions
ENSG00000145040	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000272434	chromatin interactions
ENSG00000008300	chromatin interactions
ENSG00000213689	chromatin interactions
ENSG00000070444	chromatin interactions
ENSG00000224424	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000114268	chromatin interactions
ENSG00000172113	chromatin interactions
ENSG00000114302	chromatin interactions
ENSG00000114270	chromatin interactions

Extended variants
information (count: 2347 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2347 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1079134	chr3:48599222-48599223	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs533895309	chr3:48599224-48599225	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs117583613	chr3:48599323-48599324	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs573764324	chr3:48599330-48599331	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs544445868	chr3:48599341-48599342	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556229507	chr3:48599444-48599445	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs575583337	chr3:48599445-48599446	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs567652226	chr3:48599473-48599474	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs370760018	chr3:48599504-48599505	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs377012390	chr3:48599541-48599542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs530619638	chr3:48599612-48599613	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs564163974	chr3:48599615-48599616	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs540346832	chr3:48599624-48599625	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs562269012	chr3:48599633-48599634	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374349629	chr3:48599646-48599647	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs551254002	chr3:48599656-48599657	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs536211317	chr3:48599664-48599665	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs569492388	chr3:48599743-48599744	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs187676007	chr3:48599765-48599766	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs148007631	chr3:48599785-48599786	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs551367269	chr3:48599829-48599830	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs566488649	chr3:48599831-48599832	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs537325658	chr3:48599839-48599840	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs13319651	chr3:48599841-48599842	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540408291	chr3:48599853-48599854	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs567448754	chr3:48599878-48599879	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs193093225	chr3:48599879-48599880	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs9839959	chr3:48599898-48599899	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13319635	chr3:48599944-48599945	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs552528119	chr3:48599950-48599951	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs183044713	chr3:48599962-48599963	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557698397	chr3:48599996-48599997	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs188088455	chr3:48600027-48600028	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs540283654	chr3:48600044-48600045	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs140755011	chr3:48600064-48600065	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs78159609	chr3:48600145-48600146	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs423561	chr3:48600146-48600147	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563118286	chr3:48600167-48600168	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200766954	chr3:48600189-48600190	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs374682370	chr3:48600191-48600192	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs560143325	chr3:48600216-48600217	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs138367529	chr3:48600230-48600231	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs371104367	chr3:48600235-48600236	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs374482474	chr3:48600247-48600248	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs549051034	chr3:48600251-48600252	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs199600581	chr3:48600252-48600253	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368657396	chr3:48600270-48600271	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs2633965	chr3:48600292-48600293	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs183513733	chr3:48600318-48600319	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs144853688	chr3:48600324-48600325	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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

Chromatin state (count:1432 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48594600-48599200	Enhancers	Fetal Heart	heart
2	chr3:48594600-48599200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr3:48595000-48599200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:48595400-48602000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:48595800-48599200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:48596400-48600000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:48596400-48600200	Enhancers	Spleen	Spleen
8	chr3:48596400-48603200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:48596600-48606800	Genic enhancers	A549	lung
10	chr3:48596600-48626000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:48597200-48599400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:48597200-48599800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:48597200-48600200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:48597400-48599200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:48597400-48599200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:48597400-48599200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:48597400-48599200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr3:48597600-48599200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:48597600-48599400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:48597600-48599800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:48597600-48606200	Genic enhancers	HMEC	breast
22	chr3:48597800-48599200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:48597800-48599400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:48598200-48599800	Weak transcription	Liver	Liver
25	chr3:48598200-48600800	Weak transcription	Hela-S3	cervix
26	chr3:48598400-48599400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:48598600-48599200	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:48598600-48599400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:48598600-48599400	Genic enhancers	NHLF	lung
30	chr3:48598600-48599600	Enhancers	K562	blood
31	chr3:48598600-48599600	Enhancers	NHDF-Ad	bronchial
32	chr3:48598600-48600600	Weak transcription	Brain Anterior Caudate	brain
33	chr3:48598600-48601800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:48598600-48603400	Weak transcription	Lung	lung
35	chr3:48598600-48604000	Weak transcription	Fetal Intestine Large	intestine
36	chr3:48598600-48624000	Weak transcription	Aorta	Aorta
37	chr3:48598800-48599200	Enhancers	Fetal Stomach	stomach
38	chr3:48598800-48599400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:48598800-48599400	Enhancers	Right Ventricle	heart
40	chr3:48598800-48600800	Weak transcription	Right Atrium	heart
41	chr3:48598800-48601000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:48598800-48604400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr3:48598800-48604800	Enhancers	Fetal Muscle Trunk	muscle
44	chr3:48598800-48606400	Weak transcription	Colonic Mucosa	Colon
45	chr3:48598800-48609000	Weak transcription	Esophagus	oesophagus
46	chr3:48598800-48615000	Weak transcription	Pancreas	Pancrea
47	chr3:48598800-48617200	Weak transcription	Brain Germinal Matrix	brain
48	chr3:48599000-48599200	Enhancers	Fetal Muscle Leg	muscle
49	chr3:48599000-48599200	Enhancers	HSMMtube	muscle
50	chr3:48599000-48599200	Genic enhancers	NHEK	skin

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