Variant report

Variant	nsv902356
Chromosome Location	chr14:104686346-104758887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:104692678-104692680	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr14:104717532-104718237	GM12878	blood:	n/a	n/a
3	BCL3	chr14:104755664-104755989	GM12878	blood:	n/a	n/a
4	BCL3	chr14:104755490-104755662	GM12878	blood:	n/a	n/a
5	BCL3	chr14:104733084-104733421	GM12878	blood:	n/a	n/a
6	BCL3	chr14:104733046-104733417	GM12878	blood:	n/a	n/a
7	BCL3	chr14:104754712-104755473	GM12878	blood:	n/a	n/a
8	BCL3	chr14:104733500-104733914	GM12878	blood:	n/a	n/a
9	BCL3	chr14:104754737-104756137	GM12878	blood:	n/a	chr14:104756045-104756058
10	BCL3	chr14:104713332-104713671	GM12878	blood:	n/a	n/a
11	BCL3	chr14:104733530-104733887	GM12878	blood:	n/a	n/a
12	BHLHE40	chr14:104733203-104733312	K562	blood:	n/a	n/a
13	BHLHE40	chr14:104689367-104689702	K562	blood:	n/a	chr14:104689550-104689559 chr14:104689549-104689558 chr14:104689549-104689558
14	BRCA1	chr14:104755929-104756620	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr14:104741821-104742162	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr14:104712001-104712378	HCT-116	colon:	n/a	n/a
17	CBX3	chr14:104711995-104712385	HCT-116	colon:	n/a	n/a
18	CEBPB	chr14:104721705-104721905	K562	blood:	n/a	chr14:104721796-104721807
19	CEBPB	chr14:104745687-104746247	Hela-S3	cervix:	n/a	chr14:104745796-104745807
20	CEBPB	chr14:104721659-104721859	HepG2	liver:	n/a	chr14:104721796-104721807
21	CEBPB	chr14:104698445-104698820	A549	lung:	n/a	chr14:104698625-104698636
22	CEBPB	chr14:104698451-104698818	HepG2	liver:	n/a	chr14:104698625-104698636
23	CEBPB	chr14:104713013-104713344	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr14:104721710-104721853	A549	lung:	n/a	chr14:104721796-104721807
25	CEBPB	chr14:104755978-104756796	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr14:104741273-104742573	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr14:104738331-104738554	HepG2	liver:	n/a	chr14:104738399-104738410
28	CEBPB	chr14:104698470-104698783	K562	blood:	n/a	chr14:104698625-104698636
29	CEBPB	chr14:104738254-104738516	A549	lung:	n/a	chr14:104738399-104738410
30	CEBPB	chr14:104738332-104738532	IMR90	lung:	n/a	chr14:104738399-104738410
31	CEBPB	chr14:104698447-104698823	IMR90	lung:	n/a	chr14:104698625-104698636
32	CEBPB	chr14:104748127-104748195	HepG2	liver:	n/a	n/a
33	CHD2	chr14:104756031-104756587	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr14:104742073-104742481	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr14:104706780-104707033	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr14:104734458-104734543	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr14:104690900-104691050	Caco-2	colon:	n/a	chr14:104690948-104690957 chr14:104690942-104690960 chr14:104690945-104690955 chr14:104690944-104690957 chr14:104690937-104690958 chr14:104690943-104690959 chr14:104690944-104690957
38	CTCF	chr14:104691164-104691286	GM12891	blood:	n/a	n/a
39	CTCF	chr14:104690821-104691123	GM12891	blood:	n/a	chr14:104690948-104690957 chr14:104690942-104690960 chr14:104690945-104690955 chr14:104690944-104690957 chr14:104690937-104690958 chr14:104690943-104690959 chr14:104690944-104690957
40	CTCF	chr14:104690905-104691081	Lung_OC	lung:	n/a	chr14:104690948-104690957 chr14:104690942-104690960 chr14:104690945-104690955 chr14:104690944-104690957 chr14:104690937-104690958 chr14:104690943-104690959 chr14:104690944-104690957
41	CTCF	chr14:104690880-104691030	HEK293	kidney:	n/a	chr14:104690948-104690957 chr14:104690942-104690960 chr14:104690945-104690955 chr14:104690944-104690957 chr14:104690937-104690958 chr14:104690943-104690959 chr14:104690944-104690957
42	CTCF	chr14:104691204-104691222	GM10248	blood:	n/a	n/a
43	CTCF	chr14:104690860-104691010	GM12866	blood:	n/a	chr14:104690948-104690957 chr14:104690942-104690960 chr14:104690945-104690955 chr14:104690944-104690957 chr14:104690937-104690958 chr14:104690943-104690959 chr14:104690944-104690957
44	CTCF	chr14:104755695-104755703	GM10248	blood:	n/a	n/a
45	CTCF	chr14:104690860-104691010	HCPEpiC	choroid plexus:	n/a	chr14:104690948-104690957 chr14:104690942-104690960 chr14:104690945-104690955 chr14:104690944-104690957 chr14:104690937-104690958 chr14:104690943-104690959 chr14:104690944-104690957
46	CTCF	chr14:104691340-104691490	SK-N-SH_RA	brain:	n/a	chr14:104691434-104691444
47	CTCF	chr14:104719146-104719253	Pancreas_OC	pancreas:	n/a	chr14:104719174-104719192
48	CTCF	chr14:104719095-104719290	MCF-7	breast:	n/a	chr14:104719174-104719192
49	CTCF	chr14:104719088-104719292	MCF-7	breast:	n/a	chr14:104719174-104719192
50	CTCF	chr14:104690900-104691050	GM06990	blood:	n/a	chr14:104690948-104690957 chr14:104690942-104690960 chr14:104690945-104690955 chr14:104690944-104690957 chr14:104690937-104690958 chr14:104690943-104690959 chr14:104690944-104690957

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104744168-104744218	Jurkat	blood:	n/a
2	chr14:104735644-104735694	HCM	heart:	n/a
3	chr14:104718313-104718363	Jurkat	blood:	n/a
4	chr14:104696387-104696437	HRPEpiC	eye:	n/a
5	chr14:104735644-104735694	HCPEpiC	choroid plexus:	n/a
6	chr14:104744168-104744218	Jurkat	blood:	n/a
7	chr14:104735644-104735694	HCM	heart:	n/a
8	chr14:104718313-104718363	Jurkat	blood:	n/a
9	chr14:104696387-104696437	HRPEpiC	eye:	n/a
10	chr14:104735644-104735694	HCPEpiC	choroid plexus:	n/a
11	chr14:104705443-104705493	HCM	heart:	n/a
12	chr14:104687369-104687419	HCT-116	colon:	n/a
13	chr14:104742172-104742222	HRCEpiC	kidney:	n/a
14	chr14:104742009-104742059	AG04450	lung:	fetal
15	chr14:104687257-104687307	HAEpiC	amniotic membrane:	n/a
16	chr14:104746559-104746609	ProgFib	skin:	n/a
17	chr14:104742172-104742222	Hela-S3	cervix:	n/a
18	chr14:104693174-104693224	SKMC	muscle:	n/a
19	chr14:104734272-104734322	SKMC	muscle:	n/a
20	chr14:104733813-104733863	HL-60	blood:	n/a
21	chr14:104688607-104688657	H1-hESC	embryonic stem cell:	embryo
22	chr14:104736574-104736624	NH-A	brain:	n/a
23	chr14:104742009-104742059	LNCaP	prostate:	n/a
24	chr14:104746527-104746577	Jurkat	blood:	n/a
25	chr14:104744168-104744218	PFSK-1	brain:	n/a
26	chr14:104696220-104696270	HCF	heart:	n/a
27	chr14:104687257-104687307	HIPEpiC	eye:	n/a
28	chr14:104741786-104741836	NT2-D1	testis:	n/a
29	chr14:104688607-104688657	HIPEpiC	eye:	n/a
30	chr14:104718313-104718363	T-47D	breast:	n/a
31	chr14:104746687-104746737	HepG2	liver:	n/a
32	chr14:104744168-104744218	GM12891	blood:	n/a
33	chr14:104696387-104696437	HRE	kidney:	n/a
34	chr14:104741786-104741836	MCF10A-Er-Src	breast:	n/a
35	chr14:104741786-104741836	SK-N-MC	brain:	n/a
36	chr14:104686811-104686861	MCF10A-Er-Src	breast:	n/a
37	chr14:104696387-104696437	GM12891	blood:	n/a
38	chr14:104743900-104743950	Hela-S3	cervix:	n/a
39	chr14:104690040-104690090	MCF-7	breast:	n/a
40	chr14:104687257-104687307	IMR90	lung:	fetal
41	chr14:104686639-104686689	GM06990	blood:	n/a
42	chr14:104718313-104718363	ovcar-3	ovarian:	n/a
43	chr14:104690151-104690201	U87	brain:	n/a
44	chr14:104742172-104742222	PANC-1	pancreas:	n/a
45	chr14:104690882-104690932	AG09309	skin:	n/a
46	chr14:104735644-104735694	H1-hESC	embryonic stem cell:	embryo
47	chr14:104743900-104743950	IMR90	lung:	fetal
48	chr14:104742009-104742059	ECC-1	luminal epithelium:	n/a
49	chr14:104746687-104746737	ECC-1	luminal epithelium:	n/a
50	chr14:104734272-104734322	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
2	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
3	chr14:104728779..104730960-chr14:104733381..104735361,2	K562	blood:
4	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
5	chr14:104709839..104712329-chr14:104712351..104715124,2	MCF-7	breast:
6	chr14:104747907..104749438-chr14:104962689..104965288,2	K562	blood:
7	chr14:104694080..104694805-chr14:105030047..105031033,2	MCF-7	breast:
8	chr14:104698677..104700498-chr14:104705265..104708074,2	MCF-7	breast:
9	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
10	chr14:104722882..104724563-chr14:104724745..104727407,2	MCF-7	breast:
11	chr14:104728779..104730960-chr14:104733381..104735361,2	K562	blood:
12	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
13	chr14:104750633..104755093-chr14:104756730..104760416,4	MCF-7	breast:
14	chr14:104722882..104724563-chr14:104724745..104727407,2	MCF-7	breast:
15	chr14:104747853..104750552-chr14:104755271..104758240,2	MCF-7	breast:
16	chr14:104698677..104700498-chr14:104705265..104708074,2	MCF-7	breast:
17	chr14:104694371..104697146-chr14:104809063..104811864,2	MCF-7	breast:
18	chr14:104746362..104748538-chr14:104754609..104757132,3	MCF-7	breast:
19	chr14:104603438..104604496-chr14:104718718..104719807,9	MCF-7	breast:
20	chr14:104575830..104578279-chr14:104758176..104760324,2	MCF-7	breast:
21	chr14:104600334..104603089-chr14:104739484..104741726,2	MCF-7	breast:
22	chr14:104723993..104726216-chr14:104758223..104760086,2	K562	blood:
23	chr14:104736178..104738016-chr14:104740822..104743657,2	MCF-7	breast:
24	chr14:104603553..104604461-chr14:104718749..104719349,2	MCF-7	breast:
25	chr14:104581651..104584386-chr14:104687034..104688620,2	MCF-7	breast:
26	chr14:104688070..104688871-chr4:134164467..134165082,2	MCF-7	breast:
27	chr14:104756389..104758056-chr14:104758774..104761093,2	MCF-7	breast:
28	chr14:104756422..104758689-chr14:104761247..104763793,2	MCF-7	breast:
29	chr14:104723993..104726216-chr14:104758223..104760086,2	K562	blood:
30	chr14:104689890..104692418-chr14:104695085..104697901,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-614O9.3.1-3	chr14:104753936-104755057	NONHSAT040254
2	lnc-C14orf144-1	chr14:104741681-104741966	ENSG00000258913
3	lnc-C14orf144-1	chr14:104754171-104754406	ENSG00000258913
4	lnc-C14orf144-1	chr14:104747468-104747661	NONHSAT040253
5	lnc-C14orf144-1	chr14:104709434-104710084	ENSG00000258913
6	lnc-C14orf144-1	chr14:104689921-104690153	ENSG00000258913
7	lnc-C14orf144-1	chr14:104689931-104690153	ENSG00000258913
8	lnc-RP11-614O9.3.1-3	chr14:104755902-104756432	NONHSAT040255
9	lnc-C14orf144-1	chr14:104753823-104753890	NONHSAT040253
10	lnc-C14orf144-1	chr14:104756355-104756432	NONHSAT040253
11	lnc-C14orf144-1	chr14:104709434-104709704	XLOC_010948
12	lnc-RP11-614O9.3.1-3	chr14:104755476-104756432	NONHSAT040254
13	lnc-C14orf144-1	chr14:104689744-104690153	XLOC_010948
14	lnc-C14orf144-1	chr14:104753823-104753890	ENSG00000258913
15	lnc-C14orf144-1	chr14:104689951-104690153	ENSG00000258913

Variant related genes	Relation type
ENSG00000258913	TF binding region
C14orf144	TF binding region
ENSG00000258913	CpG island
C14orf144	CpG island
ENSG00000228032	chromatin interactions
ENSG00000258913	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000258748	chromatin interactions
BRWD1	miRNA target sites
PDE3B	miRNA target sites

Extended variants
information (count: 3457 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:3457 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4482208	chr14:104686346-104686347	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375687399	chr14:104686377-104686378	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs369417567	chr14:104686407-104686408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs552761313	chr14:104686419-104686420	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532276349	chr14:104686457-104686458	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs551962673	chr14:104686466-104686467	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571830158	chr14:104686468-104686469	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs368915662	chr14:104686479-104686480	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs114567818	chr14:104686480-104686481	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140615302	chr14:104686507-104686508	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs181044922	chr14:104686511-104686512	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs536942499	chr14:104686554-104686555	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs553442710	chr14:104686555-104686556	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566736638	chr14:104686562-104686563	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs66666629	chr14:104686565-104686566	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372967096	chr14:104686622-104686623	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548463803	chr14:104686625-104686626	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs34687899	chr14:104686639-104686640	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs533758574	chr14:104686640-104686641	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs553617070	chr14:104686662-104686663	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs575411989	chr14:104686682-104686683	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs545726652	chr14:104686712-104686713	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs563887573	chr14:104686715-104686716	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554449561	chr14:104686772-104686773	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561805018	chr14:104686785-104686786	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs540129265	chr14:104686790-104686791	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs35034661	chr14:104686803-104686804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs531982087	chr14:104686809-104686810	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs545897941	chr14:104686811-104686812	Enhancers Weak transcription Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs199709860	chr14:104686814-104686815	Enhancers Weak transcription Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs539129224	chr14:104686826-104686827	Enhancers Weak transcription Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs71880927	chr14:104686842-104686843	Enhancers Weak transcription Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs113526409	chr14:104686849-104686850	Enhancers Weak transcription Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs562400511	chr14:104686858-104686859	Enhancers Weak transcription Bivalent Enhancer	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs576297149	chr14:104686869-104686870	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs185984531	chr14:104686894-104686895	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs190660019	chr14:104686956-104686957	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs373319191	chr14:104686964-104686965	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs181425258	chr14:104686980-104686981	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs555679937	chr14:104686982-104686983	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs566880572	chr14:104686991-104686992	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs35623977	chr14:104687033-104687034	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552650511	chr14:104687042-104687043	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540638209	chr14:104687049-104687050	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117763903	chr14:104687093-104687094	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537949131	chr14:104687159-104687160	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532642304	chr14:104687172-104687173	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144488048	chr14:104687179-104687180	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574279620	chr14:104687180-104687181	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572802138	chr14:104687182-104687183	Weak transcription Bivalent Enhancer Enhancers	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104682000-104688400	Weak transcription	Pancreas	Pancrea
2	chr14:104684200-104687200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104684200-104687800	Enhancers	Fetal Brain Female	brain
4	chr14:104684600-104687400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:104684600-104689400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr14:104685000-104689200	Weak transcription	Ovary	ovary
7	chr14:104685200-104687000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:104685200-104689800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:104686000-104686800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr14:104686000-104687000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:104686000-104687000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:104686000-104687200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:104686000-104687400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:104686000-104687800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr14:104686000-104688800	Enhancers	Fetal Brain Male	brain
16	chr14:104686200-104687000	Bivalent Enhancer	HepG2	liver
17	chr14:104686200-104687800	Enhancers	Fetal Lung	lung
18	chr14:104686200-104688400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr14:104686200-104690800	Enhancers	Brain Germinal Matrix	brain
20	chr14:104686400-104686600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr14:104686400-104687200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:104686400-104687200	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr14:104686400-104687800	Enhancers	Spleen	Spleen
24	chr14:104686400-104689600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr14:104686600-104686800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr14:104686600-104686800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:104686600-104686800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:104686600-104686800	Enhancers	Fetal Heart	heart
29	chr14:104686600-104686800	Enhancers	Right Atrium	heart
30	chr14:104686600-104687000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:104686600-104687000	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr14:104686600-104687200	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr14:104686800-104687000	Enhancers	Lung	lung
34	chr14:104686800-104687400	Bivalent Enhancer	Placenta	Placenta
35	chr14:104686800-104687400	Enhancers	Right Ventricle	heart
36	chr14:104686800-104689400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:104686800-104689400	Weak transcription	Fetal Heart	heart
38	chr14:104686800-104689800	Weak transcription	Right Atrium	heart
39	chr14:104687000-104687200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr14:104687000-104689400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr14:104687000-104692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:104687200-104687600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:104687200-104691200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:104687400-104687600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:104687400-104687800	Bivalent Enhancer	Right Ventricle	heart
46	chr14:104687400-104689400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:104687400-104689600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:104687600-104687800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:104687600-104688000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:104687800-104688600	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links