Variant report

Variant	nsv542211
Chromosome Location	chr14:104577600-104632674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1617)
CpG islands
(count:3791)
Chromatin interactive
region (count:72)
LncRNA
region (count:8)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:1617 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:104625095-104625503	K562	blood:	n/a	n/a
2	ATF2	chr14:104616074-104616420	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr14:104616496-104617144	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr14:104625324-104625551	K562	blood:	n/a	n/a
5	ATF3	chr14:104625187-104625517	K562	blood:	n/a	n/a
6	BACH1	chr14:104582698-104584198	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr14:104616730-104616951	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr14:104616196-104616387	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr14:104602998-104603136	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr14:104603605-104604731	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:104605679-104605938	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr14:104602373-104602569	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr14:104601446-104601766	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr14:104625238-104625341	K562	blood:	n/a	n/a
15	BACH1	chr14:104606538-104606648	H1-hESC	embryonic stem cell:	n/a	n/a
16	BCL3	chr14:104625266-104625551	GM12878	blood:	n/a	chr14:104625335-104625342 chr14:104625286-104625293
17	BCL3	chr14:104625223-104625576	GM12878	blood:	n/a	chr14:104625335-104625342 chr14:104625286-104625293
18	BCL3	chr14:104598848-104599069	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:104625117-104625730	K562	blood:	n/a	chr14:104625464-104625485 chr14:104625237-104625253 chr14:104625470-104625479 chr14:104625272-104625288 chr14:104625468-104625481 chr14:104625470-104625479 chr14:104625471-104625480
20	BHLHE40	chr14:104622036-104622123	K562	blood:	n/a	n/a
21	BHLHE40	chr14:104626256-104626525	K562	blood:	n/a	chr14:104626324-104626333 chr14:104626325-104626334 chr14:104626325-104626334
22	BHLHE40	chr14:104625377-104625634	HepG2	liver:	n/a	chr14:104625464-104625485 chr14:104625470-104625479 chr14:104625468-104625481 chr14:104625470-104625479 chr14:104625471-104625480
23	BHLHE40	chr14:104593082-104593097	A549	lung:	n/a	n/a
24	BRCA1	chr14:104605809-104605991	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr14:104604862-104604989	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr14:104603887-104604227	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr14:104604748-104604956	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr14:104597289-104597544	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr14:104590094-104590703	HCT-116	colon:	n/a	n/a
30	CBX3	chr14:104625155-104625516	K562	blood:	n/a	n/a
31	CBX3	chr14:104591338-104591761	HCT-116	colon:	n/a	n/a
32	CCNT2	chr14:104625140-104625622	K562	blood:	n/a	n/a
33	CEBPB	chr14:104625115-104625543	K562	blood:	n/a	n/a
34	CEBPB	chr14:104577129-104577731	MCF-7	breast:	n/a	n/a
35	CEBPB	chr14:104625180-104625562	K562	blood:	n/a	n/a
36	CEBPB	chr14:104616523-104616827	ECC-1	luminal epithelium:	n/a	n/a
37	CEBPB	chr14:104603838-104604611	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr14:104580112-104580198	HepG2	liver:	n/a	chr14:104580114-104580125
39	CEBPB	chr14:104616536-104616800	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr14:104592555-104592700	A549	lung:	n/a	chr14:104592600-104592611
41	CEBPB	chr14:104622570-104622868	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr14:104616458-104617018	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr14:104592571-104592744	HepG2	liver:	n/a	chr14:104592600-104592611
44	CEBPD	chr14:104625192-104625623	K562	blood:	n/a	n/a
45	CEBPD	chr14:104625119-104625649	K562	blood:	n/a	n/a
46	CHD1	chr14:104616756-104616823	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr14:104603909-104604158	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr14:104604789-104605021	H1-hESC	embryonic stem cell:	n/a	chr14:104604915-104604924
49	CHD2	chr14:104605750-104606039	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr14:104599385-104599522	H1-hESC	embryonic stem cell:	n/a	n/a

(count:3791 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104611591-104611641	HCM	heart:	n/a
2	chr14:104583245-104583295	ProgFib	skin:	n/a
3	chr14:104586593-104586643	AoSMC	blood vessel:	n/a
4	chr14:104602474-104602524	ovcar-3	ovarian:	n/a
5	chr14:104583071-104583121	HAEpiC	amniotic membrane:	n/a
6	chr14:104583632-104583682	SK-N-MC	brain:	n/a
7	chr14:104599405-104599455	SK-N-SH	brain:	n/a
8	chr14:104611819-104611869	AG10803	skin:	n/a
9	chr14:104611819-104611869	NH-A	brain:	n/a
10	chr14:104611591-104611641	HCM	heart:	n/a
11	chr14:104583245-104583295	ProgFib	skin:	n/a
12	chr14:104586593-104586643	AoSMC	blood vessel:	n/a
13	chr14:104602474-104602524	ovcar-3	ovarian:	n/a
14	chr14:104583071-104583121	HAEpiC	amniotic membrane:	n/a
15	chr14:104583632-104583682	SK-N-MC	brain:	n/a
16	chr14:104599405-104599455	SK-N-SH	brain:	n/a
17	chr14:104611819-104611869	AG10803	skin:	n/a
18	chr14:104611819-104611869	NH-A	brain:	n/a
19	chr14:104606824-104606874	AG09309	skin:	n/a
20	chr14:104623651-104623701	HNPCEpiC	eye:	n/a
21	chr14:104625669-104625719	NB4	blood:	n/a
22	chr14:104630512-104630562	AG09309	skin:	n/a
23	chr14:104600550-104600600	CMK	blood:	n/a
24	chr14:104627874-104627924	HEEpiC	esophagus:	n/a
25	chr14:104584279-104584329	NH-A	brain:	n/a
26	chr14:104604739-104604789	AG10803	skin:	n/a
27	chr14:104586593-104586643	HCF	heart:	n/a
28	chr14:104603143-104603193	ECC-1	luminal epithelium:	n/a
29	chr14:104625669-104625719	A549	lung:	n/a
30	chr14:104584573-104584623	GM19239	blood:	n/a
31	chr14:104586593-104586643	PrEC	prostate:	n/a
32	chr14:104583071-104583121	NH-A	brain:	n/a
33	chr14:104608332-104608382	HRCEpiC	kidney:	n/a
34	chr14:104605957-104606007	AG09309	skin:	n/a
35	chr14:104602474-104602524	HMEC	breast:	n/a
36	chr14:104630569-104630619	A549	lung:	n/a
37	chr14:104621601-104621651	HCPEpiC	choroid plexus:	n/a
38	chr14:104583740-104583790	PrEC	prostate:	n/a
39	chr14:104623651-104623701	AG09309	skin:	n/a
40	chr14:104621867-104621917	AG10803	skin:	n/a
41	chr14:104584573-104584623	GM12891	blood:	n/a
42	chr14:104600043-104600093	RPTEC	kidney:	n/a
43	chr14:104605671-104605721	Hepatocyte	liver:	n/a
44	chr14:104618788-104618838	HCT-116	colon:	n/a
45	chr14:104625920-104625970	CMK	blood:	n/a
46	chr14:104630064-104630114	HCF	heart:	n/a
47	chr14:104600633-104600683	SAEC	small airway:	n/a
48	chr14:104625249-104625299	IMR90	lung:	fetal
49	chr14:104583071-104583121	HEK293	kidney:	embryo
50	chr14:104602875-104602925	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:104544173..104544867-chr14:104600427..104602112,4	MCF-7	breast:
2	chr14:104560529..104561727-chr14:104596572..104597979,18	MCF-7	breast:
3	chr14:104582301..104583121-chr14:104596970..104597777,2	MCF-7	breast:
4	chr14:104611975..104614306-chr14:104614594..104616592,2	MCF-7	breast:
5	chr14:104596286..104598130-chr14:104827828..104829835,2	MCF-7	breast:
6	chr14:104600334..104603089-chr14:104739484..104741726,2	MCF-7	breast:
7	chr14:104543947..104545819-chr14:104596724..104598570,24	MCF-7	breast:
8	chr14:104595737..104597978-chr14:104609281..104611427,2	MCF-7	breast:
9	chr14:104620973..104623022-chr14:104627568..104629644,2	MCF-7	breast:
10	chr14:104544255..104544937-chr14:104603467..104604144,3	MCF-7	breast:
11	chr14:104601133..104601983-chr14:105106088..105106710,2	MCF-7	breast:
12	chr14:104601150..104601941-chr14:105106059..105106643,2	MCF-7	breast:
13	chr14:104545223..104554915-chr14:104580388..104589598,19	MCF-7	breast:
14	chr14:104582301..104583121-chr14:104596970..104597777,2	MCF-7	breast:
15	chr14:104566670..104567592-chr14:104582540..104583359,2	MCF-7	breast:
16	chr14:104594483..104596695-chr14:104598592..104600305,2	K562	blood:
17	chr14:104549857..104551476-chr14:104578395..104580259,2	MCF-7	breast:
18	chr14:104632447..104634396-chr14:104650392..104653194,2	K562	blood:
19	chr14:104544325..104549558-chr14:104595747..104599236,6	MCF-7	breast:
20	chr14:104609989..104612052-chr14:105021237..105023581,2	MCF-7	breast:
21	chr14:104617307..104621301-chr14:104625637..104628605,3	MCF-7	breast:
22	chr14:104599239..104601022-chr14:104603756..104606574,2	K562	blood:
23	chr14:104544063..104545055-chr14:104597000..104597979,7	K562	blood:
24	chr14:104583312..104585180-chr14:105266957..105269171,2	MCF-7	breast:
25	chr14:104582362..104584881-chr2:9695155..9697232,2	MCF-7	breast:
26	chr14:104602797..104606014-chr14:105189341..105192191,3	MCF-7	breast:
27	chr14:104578163..104580512-chr14:105027254..105029393,2	MCF-7	breast:
28	chr14:104599830..104602632-chr14:105024556..105026842,2	MCF-7	breast:
29	chr14:104627113..104628867-chr14:104628876..104631765,2	MCF-7	breast:
30	chr14:104612474..104614678-chr14:104620921..104622623,2	MCF-7	breast:
31	chr14:104603491..104604109-chr14:104836400..104837109,2	MCF-7	breast:
32	chr14:104600527..104602291-chr14:104606729..104609262,2	K562	blood:
33	chr14:104611975..104614306-chr14:104614594..104616592,2	MCF-7	breast:
34	chr14:104594483..104596695-chr14:104598592..104600305,2	K562	blood:
35	chr14:104560623..104561709-chr14:104596586..104598293,9	MCF-7	breast:
36	chr14:104608475..104609975-chr20:55966166..55967712,2	K562	blood:
37	chr14:104597148..104597987-chr14:105029848..105030810,3	MCF-7	breast:
38	chr14:104610504..104612427-chr14:105051437..105054279,2	MCF-7	breast:
39	chr14:104612474..104614678-chr14:104620921..104622623,2	MCF-7	breast:
40	chr14:104601273..104602911-chr14:105124192..105126069,2	MCF-7	breast:
41	chr14:104595737..104597978-chr14:104609281..104611427,2	MCF-7	breast:
42	chr11:26669136..26671365-chr14:104584975..104586845,2	MCF-7	breast:
43	chr14:104627021..104629659-chr14:104644533..104646486,2	MCF-7	breast:
44	chr14:104600527..104602291-chr14:104606729..104609262,2	K562	blood:
45	chr14:104589775..104591660-chr14:104597006..104598537,2	MCF-7	breast:
46	chr14:104620973..104623022-chr14:104627568..104629644,2	MCF-7	breast:
47	chr14:104576831..104579461-chr14:105265082..105267856,2	MCF-7	breast:
48	chr14:104607251..104609169-chr14:104611291..104612869,2	MCF-7	breast:
49	chr14:104617307..104621301-chr14:104625637..104628605,3	MCF-7	breast:
50	chr14:104601077..104602107-chr14:105029674..105030837,6	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASPG-1	chr14:104580072-104581355	NONHSAT040243
2	lnc-TDRD9-AS1-1	chr14:104603487-104603579	ENSG00000258748.1
3	lnc-ASPG-1	chr14:104581493-104581908	NONHSAT040243
4	lnc-ASPG-1	chr14:104581661-104581908	NONHSAT040244
5	lnc-ASPG-3	chr14:104630871-104631102	l_1077_chr14:104630225-104633148_lung
6	lnc-ASPG-1	chr14:104580072-104581538	NONHSAT040244
7	lnc-ASPG-3	chr14:104630226-104630291	l_1077_chr14:104630225-104633148_lung
8	lnc-TDRD9-AS1-1	chr14:104603867-104604235	ENSG00000258748.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-203a	chr14:104583806-104583827	MIMAT0000264
hsa-miR-203b-3p	chr14:104583765-104583787	MIMAT0019814
hsa-miR-203b-5p	chr14:104583805-104583826	MIMAT0019813

No data

Variant related genes	Relation type
MIR203	TF binding region
ENSG00000258748	TF binding region
ASPG	TF binding region
KIF26A	TF binding region
MIR203	CpG island
ENSG00000258748	CpG island
ASPG	CpG island
KIF26A	CpG island
ENSG00000185100	chromatin interactions
ENSG00000258748	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000132819	chromatin interactions
ENSG00000271855	chromatin interactions
ENSG00000156411	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000151694	chromatin interactions
ENSG00000066735	chromatin interactions
TJP2	Mature miRNA region
CDK6	Mature miRNA region
ABCE1	Mature miRNA region
PPM1D	Mature miRNA region
GDAP1	Mature miRNA region
E2F3	Mature miRNA region
TP63	Mature miRNA region
IL24	Mature miRNA region
EYA4	Mature miRNA region
ABL1	Mature miRNA region
BIRC5	Mature miRNA region
ZNF148	Mature miRNA region
SOCS6	Mature miRNA region
MYD88	Mature miRNA region
TNF	Mature miRNA region
SOCS3	Mature miRNA region
CBLL1	Mature miRNA region
CREB1	Mature miRNA region
SNAI2	Mature miRNA region
BCL2L2-PABPN1	Mature miRNA region
EDNRA	Mature miRNA region

Extended variants
information (count: 2508 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2508 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148545382	chr14:104577614-104577615	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs115412002	chr14:104577625-104577626	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs576952357	chr14:104577626-104577627	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs571361239	chr14:104577628-104577629	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs111323072	chr14:104577648-104577649	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs556084708	chr14:104577700-104577701	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs575900522	chr14:104577715-104577716	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs541759176	chr14:104577745-104577746	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs35872846	chr14:104577750-104577751	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs561329155	chr14:104577751-104577752	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs201489009	chr14:104577775-104577776	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs571757739	chr14:104577783-104577784	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs112358626	chr14:104577795-104577796	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs375244475	chr14:104577806-104577807	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs540761985	chr14:104577815-104577816	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs113154918	chr14:104577817-104577818	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs111968908	chr14:104577826-104577827	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs369160473	chr14:104577839-104577840	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs377739490	chr14:104577854-104577855	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs552709997	chr14:104577860-104577861	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371164876	chr14:104577861-104577862	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs563090888	chr14:104577869-104577870	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs371085351	chr14:104577879-104577880	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs532027487	chr14:104577908-104577909	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs185153554	chr14:104577917-104577918	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs377060122	chr14:104577927-104577928	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs568460528	chr14:104577935-104577936	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs370183967	chr14:104577939-104577940	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs530203475	chr14:104578077-104578078	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs190787944	chr14:104578078-104578079	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs570875088	chr14:104578100-104578101	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs539568999	chr14:104578149-104578150	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs555903483	chr14:104578230-104578231	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs374985866	chr14:104578246-104578247	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575864549	chr14:104578268-104578269	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs367885542	chr14:104578297-104578298	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370784475	chr14:104578308-104578309	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs374185145	chr14:104578313-104578314	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs199572221	chr14:104578315-104578316	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572262550	chr14:104578318-104578319	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs540976321	chr14:104578407-104578408	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs118159062	chr14:104578428-104578429	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs74334938	chr14:104578481-104578482	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs543188235	chr14:104578496-104578497	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs373361996	chr14:104578515-104578516	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs376539152	chr14:104578632-104578633	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531989121	chr14:104578635-104578636	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548889256	chr14:104578645-104578646	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370112133	chr14:104578670-104578671	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562327124	chr14:104578671-104578672	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1584 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104566200-104582600	Weak transcription	Right Atrium	heart
2	chr14:104570400-104582400	Weak transcription	Ovary	ovary
3	chr14:104574800-104577600	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr14:104575000-104582200	Weak transcription	HMEC	breast
5	chr14:104575400-104578600	Weak transcription	NHEK	skin
6	chr14:104575600-104577600	Weak transcription	Lung	lung
7	chr14:104575600-104580200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:104575800-104579000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:104576000-104580200	Enhancers	Placenta	Placenta
10	chr14:104576400-104577800	Strong transcription	Liver	Liver
11	chr14:104576600-104577800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr14:104576800-104577600	Enhancers	Fetal Muscle Leg	muscle
13	chr14:104577000-104577600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:104577000-104577600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:104577000-104577600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
16	chr14:104577000-104577800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr14:104577000-104577800	Enhancers	Fetal Lung	lung
18	chr14:104577200-104577800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:104577400-104577600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:104577400-104577600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:104577400-104577600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:104577400-104577600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr14:104577400-104577600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:104577400-104577600	Enhancers	Fetal Kidney	kidney
25	chr14:104577400-104577800	Genic enhancers	Gastric	stomach
26	chr14:104577400-104581600	Enhancers	Esophagus	oesophagus
27	chr14:104577600-104577800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:104577600-104577800	Enhancers	Lung	lung
29	chr14:104577600-104578400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:104577600-104578800	Bivalent Enhancer	Colonic Mucosa	Colon
31	chr14:104577600-104580400	Enhancers	Stomach Mucosa	stomach
32	chr14:104577600-104582200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:104577600-104582200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr14:104577800-104578000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
35	chr14:104577800-104578600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:104577800-104578800	Weak transcription	Liver	Liver
37	chr14:104577800-104579200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:104577800-104580400	Enhancers	Gastric	stomach
39	chr14:104578000-104582200	Weak transcription	Pancreas	Pancrea
40	chr14:104578200-104580000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:104578400-104579000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:104578400-104579400	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr14:104578600-104579200	Enhancers	NHEK	skin
44	chr14:104578600-104580400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:104578800-104579000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr14:104578800-104579200	Strong transcription	Liver	Liver
47	chr14:104578800-104579200	Enhancers	Colonic Mucosa	Colon
48	chr14:104579000-104579400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:104579000-104582200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:104579200-104579400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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