Variant report

Variant	esv2760340
Chromosome Location	chr14:70013752-70032826
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	ATF1	chr14:70019989-70020328	K562	blood:	n/a	n/a
2	ATF3	chr14:70020038-70020258	K562	blood:	n/a	n/a
3	BACH1	chr14:70014404-70015035	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr14:70014924-70015018	K562	blood:	n/a	n/a
5	BRCA1	chr14:70014866-70015132	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr14:70019884-70020266	A549	lung:	n/a	n/a
7	CEBPB	chr14:70019942-70020321	A549	lung:	n/a	n/a
8	CEBPB	chr14:70019956-70020295	IMR90	lung:	n/a	n/a
9	CEBPB	chr14:70019969-70020301	K562	blood:	n/a	n/a
10	CEBPB	chr14:70019968-70020260	K562	blood:	n/a	n/a
11	CEBPB	chr14:70019916-70020363	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr14:70019934-70020271	A549	lung:	n/a	n/a
13	CEBPB	chr14:70019927-70020361	MCF-7	breast:	n/a	n/a
14	CHD2	chr14:70014730-70015008	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr14:70020022-70020294	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr14:70014843-70015060	A549	lung:	n/a	n/a
17	CTCF	chr14:70014880-70015030	HRPEpiC	eye:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
18	CTCF	chr14:70014852-70015076	ProgFib	skin:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
19	CTCF	chr14:70014672-70015290	A549	lung:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
20	CTCF	chr14:70014840-70014990	HAc	cerebellar:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
21	CTCF	chr14:70014832-70015046	SK-N-SH_RA	brain:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
22	CTCF	chr14:70014672-70015235	K562	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
23	CTCF	chr14:70014871-70015074	HUVEC	blood vessel:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
24	CTCF	chr14:70014960-70015110	AG09309	skin:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
25	CTCF	chr14:70014620-70014770	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr14:70014827-70015109	K562	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
27	CTCF	chr14:70014827-70015094	GM19240	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
28	CTCF	chr14:70014500-70014650	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr14:70014860-70015010	GM12868	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
30	CTCF	chr14:70014880-70015030	WERI-Rb-1	eye:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
31	CTCF	chr14:70014940-70015090	HCFaa	heart:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
32	CTCF	chr14:70014940-70015090	SAEC	small airway:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
33	CTCF	chr14:70024140-70024290	AG09309	skin:	n/a	n/a
34	CTCF	chr14:70014827-70015100	NHEK	skin:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
35	CTCF	chr14:70014940-70015090	NHEK	skin:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
36	CTCF	chr14:70014865-70015049	GM10248	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
37	CTCF	chr14:70014817-70015095	H1-hESC	embryonic stem cell:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
38	CTCF	chr14:70014922-70015014	MCF-7	breast:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
39	CTCF	chr14:70016200-70016350	GM12873	blood:	n/a	n/a
40	CTCF	chr14:70014900-70015050	HMF	breast:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
41	CTCF	chr14:70014440-70014590	NHDF-neo	bronchial:	n/a	n/a
42	CTCF	chr14:70014960-70015110	HEEpiC	esophagus:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
43	CTCF	chr14:70016120-70016270	HepG2	liver:	n/a	n/a
44	CTCF	chr14:70014833-70015090	GM12878	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
45	CTCF	chr14:70014940-70015090	GM12801	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
46	CTCF	chr14:70014850-70015076	K562	blood:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
47	CTCF	chr14:70014893-70015031	MCF-7	breast:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
48	CTCF	chr14:70014900-70015050	HPF	lung:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
49	CTCF	chr14:70014887-70015058	Pancreas_OC	pancreas:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976
50	CTCF	chr14:70014880-70015030	SAEC	small airway:	n/a	chr14:70014960-70014978 chr14:70014963-70014976 chr14:70014963-70014972 chr14:70014965-70014975 chr14:70014961-70014977 chr14:70014963-70014976

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70017574-70017624	HIPEpiC	eye:	n/a
2	chr14:70014548-70014598	GM12878	blood:	n/a
3	chr14:70014548-70014598	MCF10A-Er-Src	breast:	n/a
4	chr14:70015473-70015523	K562	blood:	n/a
5	chr14:70014974-70015024	ECC-1	luminal epithelium:	n/a
6	chr14:70017574-70017624	HNPCEpiC	eye:	n/a
7	chr14:70014715-70014765	MCF-7	breast:	n/a
8	chr14:70015473-70015523	Caco-2	colon:	n/a
9	chr14:70014873-70014923	HepG2	liver:	n/a
10	chr14:70014974-70015024	ProgFib	skin:	n/a
11	chr14:70014548-70014598	Caco-2	colon:	n/a
12	chr14:70017574-70017624	AoSMC	blood vessel:	n/a
13	chr14:70014548-70014598	NHDF-neo	bronchial:	n/a
14	chr14:70014974-70015024	AoSMC	blood vessel:	n/a
15	chr14:70014873-70014923	IMR90	lung:	fetal
16	chr14:70017574-70017624	K562	blood:	n/a
17	chr14:70014548-70014598	HRCEpiC	kidney:	n/a
18	chr14:70014873-70014923	HUVEC	blood vessel:	n/a
19	chr14:70014974-70015024	AG04450	lung:	fetal
20	chr14:70014548-70014598	HMEC	breast:	n/a
21	chr14:70015473-70015523	RPTEC	kidney:	n/a
22	chr14:70014548-70014598	MCF-7	breast:	n/a
23	chr14:70017574-70017624	GM12892	blood:	n/a
24	chr14:70014548-70014598	GM12891	blood:	n/a
25	chr14:70014974-70015024	HCM	heart:	n/a
26	chr14:70014548-70014598	HAEpiC	amniotic membrane:	n/a
27	chr14:70014715-70014765	HIPEpiC	eye:	n/a
28	chr14:70015473-70015523	Hela-S3	cervix:	n/a
29	chr14:70014873-70014923	H1-hESC	embryonic stem cell:	embryo
30	chr14:70014715-70014765	HUVEC	blood vessel:	n/a
31	chr14:70014974-70015024	HCF	heart:	n/a
32	chr14:70014548-70014598	Jurkat	blood:	n/a
33	chr14:70014974-70015024	PANC-1	pancreas:	n/a
34	chr14:70014873-70014923	NHDF-neo	bronchial:	n/a
35	chr14:70014715-70014765	NHBE	bronchial:	n/a
36	chr14:70017574-70017624	AG10803	skin:	n/a
37	chr14:70014873-70014923	AoSMC	blood vessel:	n/a
38	chr14:70017574-70017624	SAEC	small airway:	n/a
39	chr14:70014873-70014923	NHBE	bronchial:	n/a
40	chr14:70015473-70015523	NHDF-neo	bronchial:	n/a
41	chr14:70014974-70015024	A549	lung:	n/a
42	chr14:70014974-70015024	ovcar-3	ovarian:	n/a
43	chr14:70014548-70014598	Hepatocyte	liver:	n/a
44	chr14:70015473-70015523	HAEpiC	amniotic membrane:	n/a
45	chr14:70014548-70014598	HCM	heart:	n/a
46	chr14:70014873-70014923	HAEpiC	amniotic membrane:	n/a
47	chr14:70014715-70014765	ProgFib	skin:	n/a
48	chr14:70014873-70014923	Hela-S3	cervix:	n/a
49	chr14:70017574-70017624	HEK293	kidney:	embryo
50	chr14:70014974-70015024	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70014454..70015116-chr14:70193405..70194292,6	K562	blood:
2	chr14:70009624..70012138-chr14:70013181..70015316,2	K562	blood:
3	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
4	chr14:70030912..70032771-chr14:70037845..70040313,2	K562	blood:
5	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
6	chr14:70031632..70033934-chr14:70036224..70037978,2	MCF-7	breast:
7	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
8	chr14:70019966..70021611-chr14:70026583..70029344,2	K562	blood:
9	chr14:70030422..70032723-chr14:70038343..70040590,3	MCF-7	breast:
10	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-4	chr14:70014555-70014755	NONHSAT037529
2	lnc-PLEKHD1-2	chr14:70031849-70032228	NONHSAT037531
3	lnc-C14orf162-2	chr14:70027736-70028187	NONHSAT037530

Variant related genes	Relation type
ENSG00000244237	TF binding region
ENSG00000244237	CpG island
ENSG00000255994	chromatin interactions
ENSG00000267909	chromatin interactions
ENSG00000244237	chromatin interactions
ENSG00000100650	chromatin interactions

Extended variants
information (count: 719 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559318651	chr14:70013759-70013760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74735903	chr14:70013825-70013826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181907242	chr14:70013849-70013850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562812397	chr14:70013856-70013857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184903257	chr14:70013900-70013901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541781436	chr14:70013918-70013919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560105189	chr14:70013955-70013956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144618948	chr14:70014016-70014017	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546469834	chr14:70014109-70014110	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148505590	chr14:70014124-70014125	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533804901	chr14:70014129-70014130	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550776233	chr14:70014130-70014131	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114737548	chr14:70014169-70014170	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs536340190	chr14:70014175-70014176	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs189904425	chr14:70014193-70014194	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566452431	chr14:70014195-70014196	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142842313	chr14:70014196-70014197	Weak transcription Bivalent/Poised TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371635433	chr14:70014201-70014202	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150635137	chr14:70014205-70014206	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181291280	chr14:70014210-70014211	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561705454	chr14:70014226-70014227	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186497224	chr14:70014251-70014252	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374616685	chr14:70014259-70014260	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs367734370	chr14:70014288-70014289	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549148297	chr14:70014305-70014306	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551605443	chr14:70014307-70014308	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs541918427	chr14:70014322-70014323	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560241689	chr14:70014352-70014353	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111781220	chr14:70014387-70014388	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552140556	chr14:70014416-70014417	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78095041	chr14:70014431-70014432	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570058438	chr14:70014467-70014468	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545811162	chr14:70014473-70014474	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74061847	chr14:70014497-70014498	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34811538	chr14:70014518-70014519	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532442149	chr14:70014531-70014532	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562698139	chr14:70014572-70014573	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs140851176	chr14:70014632-70014633	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs142572403	chr14:70014700-70014701	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs548289557	chr14:70014711-70014712	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs77652345	chr14:70014723-70014724	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs74061848	chr14:70014724-70014725	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552153670	chr14:70014743-70014744	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs191752689	chr14:70014837-70014838	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs8009791	chr14:70014867-70014868	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183298375	chr14:70014870-70014871	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574670744	chr14:70014949-70014950	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564215370	chr14:70014991-70014992	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74493252	chr14:70014998-70014999	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187543656	chr14:70014999-70015000	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70002400-70014600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:70007000-70014400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70010200-70014000	Weak transcription	Fetal Brain Male	brain
4	chr14:70010600-70014400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:70011200-70014200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:70011400-70014000	Weak transcription	Fetal Brain Female	brain
7	chr14:70011400-70014600	Weak transcription	HMEC	breast
8	chr14:70014000-70014200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:70014000-70015000	Enhancers	Fetal Brain Male	brain
10	chr14:70014000-70015400	Active TSS	Fetal Brain Female	brain
11	chr14:70014200-70014400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70014200-70015000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:70014200-70015200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:70014200-70015200	Active TSS	Brain Germinal Matrix	brain
15	chr14:70014400-70014600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr14:70014400-70014600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:70014400-70014600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70014400-70014600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:70014400-70014600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:70014400-70014600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:70014400-70014600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
22	chr14:70014400-70014600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr14:70014400-70014600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr14:70014400-70014600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr14:70014400-70014600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr14:70014400-70014600	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr14:70014400-70014600	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr14:70014400-70014600	Enhancers	Ovary	ovary
29	chr14:70014400-70014600	Enhancers	Right Atrium	heart
30	chr14:70014400-70014600	Bivalent/Poised TSS	Right Ventricle	heart
31	chr14:70014400-70014800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:70014400-70014800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:70014400-70014800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr14:70014400-70014800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:70014400-70014800	Active TSS	Brain Angular Gyrus	brain
36	chr14:70014400-70014800	Active TSS	Brain Anterior Caudate	brain
37	chr14:70014400-70014800	Bivalent Enhancer	Fetal Lung	lung
38	chr14:70014400-70014800	Bivalent Enhancer	Fetal Thymus	thymus
39	chr14:70014400-70014800	Bivalent Enhancer	Psoas Muscle	Psoas
40	chr14:70014400-70015000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:70014400-70015000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr14:70014400-70015000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:70014400-70015000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr14:70014400-70015000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:70014400-70015000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr14:70014400-70015000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:70014400-70015000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:70014400-70015000	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:70014400-70015000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:70014400-70015000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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