Variant report

Variant	esv1810203
Chromosome Location	chr4:68763794-68998153
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1206)
CpG islands
(count:856)
Chromatin interactive
region (count:72)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1206 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:68776107-68776264	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:68995505-68995878	K562	blood:	n/a	n/a
3	ATF1	chr4:68799641-68799825	K562	blood:	n/a	n/a
4	ATF1	chr4:68794343-68794570	K562	blood:	n/a	n/a
5	ATF1	chr4:68995507-68995848	K562	blood:	n/a	n/a
6	ATF3	chr4:68995610-68995980	K562	blood:	n/a	n/a
7	BACH1	chr4:68794347-68794496	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:68990022-68990381	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr4:68995560-68995938	K562	blood:	n/a	n/a
10	BRCA1	chr4:68795302-68795527	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr4:68995389-68995866	K562	blood:	n/a	n/a
12	CBX3	chr4:68995373-68995867	HCT-116	colon:	n/a	n/a
13	CCNT2	chr4:68995497-68995943	K562	blood:	n/a	n/a
14	CEBPB	chr4:68856229-68856393	HepG2	liver:	n/a	chr4:68856321-68856332 chr4:68856323-68856334 chr4:68856323-68856332
15	CEBPB	chr4:68857875-68858075	H1-hESC	embryonic stem cell:	n/a	chr4:68857997-68858014
16	CEBPB	chr4:68894902-68895059	H1-hESC	embryonic stem cell:	n/a	chr4:68894994-68895007 chr4:68894996-68895005
17	CEBPB	chr4:68861899-68862052	HepG2	liver:	n/a	chr4:68861967-68861980 chr4:68861968-68861979
18	CEBPB	chr4:68854260-68854618	IMR90	lung:	n/a	chr4:68854428-68854439 chr4:68854428-68854441 chr4:68854428-68854441 chr4:68854429-68854440
19	CEBPB	chr4:68853094-68853163	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:68894925-68895100	HepG2	liver:	n/a	chr4:68894994-68895007 chr4:68894996-68895005
21	CEBPB	chr4:68794296-68794614	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr4:68775691-68776000	A549	lung:	n/a	chr4:68775829-68775840
23	CEBPB	chr4:68794274-68794457	K562	blood:	n/a	n/a
24	CEBPB	chr4:68854301-68854524	A549	lung:	n/a	chr4:68854428-68854439 chr4:68854428-68854441 chr4:68854428-68854441 chr4:68854429-68854440
25	CEBPB	chr4:68867062-68867417	IMR90	lung:	n/a	chr4:68867240-68867257
26	CEBPB	chr4:68939433-68939695	HepG2	liver:	n/a	chr4:68939507-68939518
27	CEBPB	chr4:68867077-68867408	HepG2	liver:	n/a	chr4:68867240-68867257
28	CEBPB	chr4:68794230-68794706	MCF-7	breast:	n/a	n/a
29	CEBPB	chr4:68867081-68867455	MCF-7	breast:	n/a	chr4:68867240-68867257
30	CEBPB	chr4:68775665-68776273	K562	blood:	n/a	chr4:68775829-68775840
31	CEBPB	chr4:68795096-68795523	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr4:68813237-68813501	HepG2	liver:	n/a	chr4:68813348-68813359
33	CEBPB	chr4:68775659-68776005	Hela-S3	cervix:	n/a	chr4:68775829-68775840
34	CEBPB	chr4:68926863-68927089	IMR90	lung:	n/a	n/a
35	CEBPB	chr4:68995621-68995932	K562	blood:	n/a	n/a
36	CEBPB	chr4:68855215-68855252	K562	blood:	n/a	n/a
37	CEBPB	chr4:68775674-68776023	HepG2	liver:	n/a	chr4:68775829-68775840
38	CEBPB	chr4:68855216-68855371	HepG2	liver:	n/a	chr4:68855246-68855257 chr4:68855292-68855300 chr4:68855247-68855258
39	CEBPB	chr4:68987327-68987697	K562	blood:	n/a	chr4:68987420-68987431 chr4:68987420-68987431 chr4:68987420-68987433 chr4:68987677-68987688
40	CEBPB	chr4:68987328-68987795	H1-hESC	embryonic stem cell:	n/a	chr4:68987420-68987431 chr4:68987420-68987431 chr4:68987420-68987433 chr4:68987677-68987688
41	CEBPB	chr4:68940238-68940438	A549	lung:	n/a	chr4:68940343-68940354
42	CEBPB	chr4:68887982-68888143	A549	lung:	n/a	chr4:68888044-68888055
43	CEBPB	chr4:68867084-68867396	A549	lung:	n/a	chr4:68867240-68867257
44	CEBPB	chr4:68995482-68995898	MCF-7	breast:	n/a	n/a
45	CEBPB	chr4:68940147-68940530	Hela-S3	cervix:	n/a	chr4:68940343-68940354
46	CEBPB	chr4:68854270-68854590	HepG2	liver:	n/a	chr4:68854428-68854439 chr4:68854428-68854441 chr4:68854428-68854441 chr4:68854429-68854440
47	CEBPB	chr4:68886657-68887443	HCT-116	colon:	n/a	n/a
48	CEBPB	chr4:68894997-68895022	K562	blood:	n/a	n/a
49	CEBPB	chr4:68867136-68867337	Hela-S3	cervix:	n/a	chr4:68867240-68867257
50	CEBPB	chr4:68856283-68856483	K562	blood:	n/a	chr4:68856321-68856332 chr4:68856323-68856334 chr4:68856323-68856332

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:68904160-68904210	HCPEpiC	choroid plexus:	n/a
2	chr4:68801145-68801195	NHDF-neo	bronchial:	n/a
3	chr4:68904160-68904210	HCPEpiC	choroid plexus:	n/a
4	chr4:68801145-68801195	NHDF-neo	bronchial:	n/a
5	chr4:68995995-68996045	GM12892	blood:	n/a
6	chr4:68829101-68829151	T-47D	breast:	n/a
7	chr4:68829101-68829151	HIPEpiC	eye:	n/a
8	chr4:68929005-68929055	IMR90	lung:	fetal
9	chr4:68919575-68919625	H1-hESC	embryonic stem cell:	embryo
10	chr4:68930433-68930483	HCF	heart:	n/a
11	chr4:68830227-68830277	GM12892	blood:	n/a
12	chr4:68929020-68929070	HCM	heart:	n/a
13	chr4:68801145-68801195	H1-hESC	embryonic stem cell:	embryo
14	chr4:68904160-68904210	MCF-7	breast:	n/a
15	chr4:68930433-68930483	ProgFib	skin:	n/a
16	chr4:68801145-68801195	HUVEC	blood vessel:	n/a
17	chr4:68928981-68929031	HL-60	blood:	n/a
18	chr4:68995759-68995809	NH-A	brain:	n/a
19	chr4:68776652-68776702	HRCEpiC	kidney:	n/a
20	chr4:68929005-68929055	AG04449	skin:	fetal
21	chr4:68829101-68829151	A549	lung:	n/a
22	chr4:68900280-68900330	CMK	blood:	n/a
23	chr4:68928981-68929031	Hela-S3	cervix:	n/a
24	chr4:68929005-68929055	Jurkat	blood:	n/a
25	chr4:68930433-68930483	HAEpiC	amniotic membrane:	n/a
26	chr4:68929413-68929463	IMR90	lung:	fetal
27	chr4:68919575-68919625	AG10803	skin:	n/a
28	chr4:68919575-68919625	ECC-1	luminal epithelium:	n/a
29	chr4:68830227-68830277	NHDF-neo	bronchial:	n/a
30	chr4:68928981-68929031	HCM	heart:	n/a
31	chr4:68929020-68929070	HNPCEpiC	eye:	n/a
32	chr4:68929005-68929055	H1-hESC	embryonic stem cell:	embryo
33	chr4:68929005-68929055	BE2_C	brain:	n/a
34	chr4:68995995-68996045	ProgFib	skin:	n/a
35	chr4:68776652-68776702	HCT-116	colon:	n/a
36	chr4:68995759-68995809	Hepatocyte	liver:	n/a
37	chr4:68995759-68995809	HAEpiC	amniotic membrane:	n/a
38	chr4:68929413-68929463	CMK	blood:	n/a
39	chr4:68830227-68830277	HIPEpiC	eye:	n/a
40	chr4:68919575-68919625	NHBE	bronchial:	n/a
41	chr4:68801145-68801195	IMR90	lung:	fetal
42	chr4:68995759-68995809	CMK	blood:	n/a
43	chr4:68930433-68930483	GM06990	blood:	n/a
44	chr4:68928981-68929031	Caco-2	colon:	n/a
45	chr4:68919575-68919625	AG04450	lung:	fetal
46	chr4:68929005-68929055	PrEC	prostate:	n/a
47	chr4:68929020-68929070	NHBE	bronchial:	n/a
48	chr4:68776652-68776702	NHDF-neo	bronchial:	n/a
49	chr4:68904160-68904210	HUVEC	blood vessel:	n/a
50	chr4:68904160-68904210	AG04449	skin:	fetal

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:68577504..68578308-chr4:68794030..68794919,2	MCF-7	breast:
2	chr4:68945761..68946581-chr4:69040992..69041794,2	MCF-7	breast:
3	chr4:68794156..68795825-chr4:69317354..69319516,2	MCF-7	breast:
4	chr4:68924336..68926843-chr4:68931083..68932839,2	MCF-7	breast:
5	chr4:68854785..68855326-chr4:69041026..69041997,2	MCF-7	breast:
6	chr4:68915001..68917748-chr4:68918946..68921356,2	MCF-7	breast:
7	chr4:68915001..68917748-chr4:68918946..68921356,2	MCF-7	breast:
8	chr4:68941725..68942553-chr4:69040855..69041893,4	MCF-7	breast:
9	chr4:68919044..68921969-chr4:68924326..68927015,2	K562	blood:
10	chr4:68782884..68785601-chr4:68941722..68943617,2	MCF-7	breast:
11	chr4:68924336..68926843-chr4:68931083..68932839,2	MCF-7	breast:
12	chr4:68796679..68798591-chr4:68806253..68807881,2	MCF-7	breast:
13	chr4:68788622..68791120-chr4:68792670..68794501,2	MCF-7	breast:
14	chr4:68801891..68804770-chr4:68805510..68808424,3	K562	blood:
15	chr4:68911783..68913982-chr4:68917527..68919121,2	K562	blood:
16	chr4:68774616..68776298-chr4:68783211..68785677,2	K562	blood:
17	chr4:68793797..68796085-chr4:69232793..69234726,2	MCF-7	breast:
18	chr4:68801891..68804770-chr4:68805510..68808424,3	K562	blood:
19	chr4:68791805..68794624-chr4:68798478..68800793,2	K562	blood:
20	chr4:68788622..68791120-chr4:68792670..68794501,2	MCF-7	breast:
21	chr4:68853962..68854562-chr4:69041076..69041834,2	K562	blood:
22	chr4:68945279..68946241-chr4:69040966..69041537,2	K562	blood:
23	chr4:68782884..68785601-chr4:68941722..68943617,2	MCF-7	breast:
24	chr4:68798924..68801314-chr4:68932123..68934294,2	MCF-7	breast:
25	chr4:68987951..68990702-chr4:68992647..68994699,2	K562	blood:
26	chr4:68913890..68916498-chr4:68916992..68918591,2	MCF-7	breast:
27	chr4:68794157..68794866-chr4:69050816..69051359,2	MCF-7	breast:
28	chr4:68883089..68884997-chr4:68887701..68890688,2	MCF-7	breast:
29	chr4:68989293..68991883-chr4:68991970..68993905,2	MCF-7	breast:
30	chr4:68887827..68889608-chr4:68891154..68893430,2	K562	blood:
31	chr11:73471645..73472154-chr4:68919136..68920088,2	MCF-7	breast:
32	chr4:68784466..68787667-chr4:69042128..69044915,3	MCF-7	breast:
33	chr4:68791805..68794624-chr4:68798478..68800793,2	K562	blood:
34	chr4:68783821..68784619-chr4:69040970..69041992,6	MCF-7	breast:
35	chr4:68774616..68776298-chr4:68783211..68785677,2	K562	blood:
36	chr4:68782641..68784982-chr4:68793433..68796175,2	MCF-7	breast:
37	chr4:68802859..68804770-chr4:68805510..68807108,2	K562	blood:
38	chr4:68854585..68857401-chr4:68944516..68946087,2	MCF-7	breast:
39	chr4:68794052..68794960-chr4:69050850..69051709,2	MCF-7	breast:
40	chr4:68782641..68784982-chr4:68793433..68796175,2	MCF-7	breast:
41	chr4:68854585..68857401-chr4:68944516..68946087,2	MCF-7	breast:
42	chr4:68737272..68738257-chr4:68775113..68776602,5	MCF-7	breast:
43	chr4:68787068..68789277-chr4:68795494..68798392,2	MCF-7	breast:
44	chr4:68794355..68794979-chr4:68995102..68995843,2	MCF-7	breast:
45	chr4:68802859..68804770-chr4:68805510..68807108,2	K562	blood:
46	chr4:68784089..68784796-chr4:68853790..68854411,2	MCF-7	breast:
47	chr4:68794060..68794853-chr4:68904568..68905079,2	MCF-7	breast:
48	chr4:68588334..68590985-chr4:68982055..68983628,2	K562	blood:
49	chr4:68788496..68791205-chr4:68791799..68795295,5	MCF-7	breast:
50	chr4:68883089..68884997-chr4:68887701..68890688,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMPRSS11E-1	chr4:68943181-68943348	ENSG00000248049
2	lnc-TMPRSS11A-2	chr4:68927630-68929015	NONHSAT096720
3	lnc-TMPRSS11E-1	chr4:68945839-68946670	ENSG00000248049
4	lnc-TMPRSS11A-2	chr4:68926312-68926518	NONHSAT096720
5	lnc-TMPRSS11A-2	chr4:68926583-68927569	NONHSAT096720
6	lnc-TMPRSS11E-1	chr4:68942997-68943139	ENSG00000248049
7	lnc-TMPRSS11E-1	chr4:68938823-68938951	NONHSAT096719
8	lnc-TMPRSS11E-1	chr4:68928801-68928939	ENSG00000248049
9	lnc-TMPRSS11A-2	chr4:68926328-68927569	NONHSAT096721
10	lnc-TMPRSS11A-2	chr4:68927540-68928987	NONHSAT096722
11	lnc-TMPRSS11E-1	chr4:68919226-68919276	NONHSAT096719
12	lnc-TMPRSS11E-1	chr4:68945839-68945944	ENSG00000248049
13	lnc-TMPRSS11E-1	chr4:68928780-68928939	ENSG00000248049
14	lnc-TMPRSS11A-2	chr4:68927630-68929015	NONHSAT096721
15	lnc-TMPRSS11E-1	chr4:68926333-68928939	NONHSAT096719
16	lnc-TMPRSS11A-2	chr4:68928266-68928986	NONHSAT147287
17	lnc-TMPRSS11E-1	chr4:68945839-68946363	ENSG00000248049
18	lnc-TMPRSS11E-1	chr4:68928325-68928939	ENSG00000248049

No data

Variant related genes	Relation type
GCOM2	TF binding region
SYT14L	TF binding region
TMPRSS11A	TF binding region
UBA6-AS1	TF binding region
RNU6-95P	TF binding region
TMPRSS11F	TF binding region
TMPRSS11GP	TF binding region
GCOM2	CpG island
SYT14L	CpG island
TMPRSS11A	CpG island
UBA6-AS1	CpG island
RNU6-95P	CpG island
TMPRSS11F	CpG island
TMPRSS11GP	CpG island
ENSG00000198092	chromatin interactions
ENSG00000033178	chromatin interactions
ENSG00000175582	chromatin interactions
ENSG00000270228	chromatin interactions
ENSG00000248049	chromatin interactions
BCL2L11	miRNA target sites
GOLGA6A	miRNA target sites
ASPH	miRNA target sites
BRD1	miRNA target sites
KLHL15	miRNA target sites
DICER1	miRNA target sites
DDX50	miRNA target sites
RALGPS2	miRNA target sites

Extended variants
information (count: 4654 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4654 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs959636	chr4:68763794-68763795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116818255	chr4:68763864-68763865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544070563	chr4:68763887-68763888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142204789	chr4:68763890-68763891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113627460	chr4:68763901-68763902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546034904	chr4:68763903-68763904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78614075	chr4:68763932-68763933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528145075	chr4:68763937-68763938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146394258	chr4:68763966-68763967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139661154	chr4:68763975-68763976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150045028	chr4:68763997-68763998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77762670	chr4:68764029-68764030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190003280	chr4:68764051-68764052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558729761	chr4:68764065-68764066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553157023	chr4:68764080-68764081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76361411	chr4:68764115-68764116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145501393	chr4:68764161-68764162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142584558	chr4:68764173-68764174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574759398	chr4:68764231-68764232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1978914	chr4:68764274-68764275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77448979	chr4:68764279-68764280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77681033	chr4:68764294-68764295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546094537	chr4:68764322-68764323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142507332	chr4:68764331-68764332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114581919	chr4:68764343-68764344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543541975	chr4:68764345-68764346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556534230	chr4:68764382-68764383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376743105	chr4:68764406-68764407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199590211	chr4:68764420-68764421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541888621	chr4:68764431-68764432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372805233	chr4:68764432-68764433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34852378	chr4:68764438-68764439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530521035	chr4:68764446-68764447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550646163	chr4:68764480-68764481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564074586	chr4:68764501-68764502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187157717	chr4:68764527-68764528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200580790	chr4:68764533-68764534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573608449	chr4:68764570-68764571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546933811	chr4:68764620-68764621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542539854	chr4:68764632-68764633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145582601	chr4:68764654-68764655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201541646	chr4:68764662-68764663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535323880	chr4:68764677-68764678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191032394	chr4:68764681-68764682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372434768	chr4:68764684-68764685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199743130	chr4:68764687-68764688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3064889	chr4:68764690-68764691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548653785	chr4:68764707-68764708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182118719	chr4:68764739-68764740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185151816	chr4:68764752-68764753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Depressive disorder	21152026	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68762800-68765000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:68764800-68765800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr4:68765000-68766000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr4:68766000-68767000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:68767000-68767600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:68768400-68772800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:68772800-68773800	Enhancers	Esophagus	oesophagus
8	chr4:68773800-68779000	Weak transcription	Esophagus	oesophagus
9	chr4:68775600-68776200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:68775600-68776600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:68776000-68776200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:68776600-68776800	Enhancers	Fetal Intestine Small	intestine
13	chr4:68776800-68777000	Active TSS	Duodenum Mucosa	Duodenum
14	chr4:68776800-68777200	Enhancers	Stomach Mucosa	stomach
15	chr4:68776800-68778000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:68777000-68777200	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr4:68777000-68778000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:68777800-68778600	Enhancers	Fetal Intestine Large	intestine
19	chr4:68778000-68778400	Enhancers	Fetal Intestine Small	intestine
20	chr4:68779000-68779800	ZNF genes & repeats	Esophagus	oesophagus
21	chr4:68779800-68792200	Weak transcription	Esophagus	oesophagus
22	chr4:68780200-68781000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:68781000-68782000	Enhancers	Dnd41	blood
24	chr4:68781200-68781600	Enhancers	Fetal Thymus	thymus
25	chr4:68785400-68785800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:68785800-68786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:68785800-68788400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:68788200-68788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:68788400-68788800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:68788400-68789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:68788600-68789000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:68792200-68792400	ZNF genes & repeats	Esophagus	oesophagus
33	chr4:68792200-68793400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:68792400-68793200	Genic enhancers	Esophagus	oesophagus
35	chr4:68792600-68793400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:68792600-68793600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:68793000-68793200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:68793000-68793400	Enhancers	Spleen	Spleen
39	chr4:68793200-68793400	ZNF genes & repeats	Esophagus	oesophagus
40	chr4:68793200-68794400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:68793400-68806600	Weak transcription	Esophagus	oesophagus
42	chr4:68793600-68794800	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:68793600-68799800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:68794000-68794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:68794000-68794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:68794000-68794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:68794200-68796400	Enhancers	Hela-S3	cervix
48	chr4:68794200-68799000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:68794400-68796000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:68794400-68796000	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links