Variant report

Variant	esv1824330
Chromosome Location	chr14:70037611-70042464
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	chr14:70041458-70041770	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr14:70041382-70041806	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:70041598-70041658	K562	blood:	n/a	n/a
4	CHD1	chr14:70041520-70041874	IMR90	lung:	n/a	n/a
5	CHD2	chr14:70039330-70039421	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr14:70041259-70041667	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr14:70041437-70041486	HepG2	liver:	n/a	n/a
8	CHD2	chr14:70038693-70038959	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr14:70041480-70041630	AG04450	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
10	CTCF	chr14:70041262-70041885	HCT-116	colon:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
11	CTCF	chr14:70041560-70041710	GM12874	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
12	CTCF	chr14:70041540-70041690	HPF	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
13	CTCF	chr14:70041437-70041742	MCF-7	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
14	CTCF	chr14:70041500-70041650	SAEC	small airway:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
15	CTCF	chr14:70041507-70041712	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
16	CTCF	chr14:70041500-70041650	WERI-Rb-1	eye:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
17	CTCF	chr14:70041560-70041710	AG04449	skin:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
18	CTCF	chr14:70041540-70041690	AG09309	skin:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
19	CTCF	chr14:70041540-70041690	AG04449	skin:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
20	CTCF	chr14:70041560-70041710	GM12878	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
21	CTCF	chr14:70041560-70041710	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
22	CTCF	chr14:70041480-70041630	GM12865	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
23	CTCF	chr14:70041482-70041750	LNCaP	prostate:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
24	CTCF	chr14:70041500-70041650	HEK293	kidney:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
25	CTCF	chr14:70041507-70041728	HepG2	liver:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
26	CTCF	chr14:70041940-70042090	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr14:70042240-70042390	RPTEC	kidney:	n/a	n/a
28	CTCF	chr14:70041490-70041756	GM13977	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
29	CTCF	chr14:70041516-70041713	SK-N-SH_RA	brain:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
30	CTCF	chr14:70041520-70041670	HMEC	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
31	CTCF	chr14:70041500-70041650	HUVEC	blood vessel:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
32	CTCF	chr14:70041410-70041814	K562	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
33	CTCF	chr14:70041560-70041710	GM06990	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
34	CTCF	chr14:70041160-70041310	SAEC	small airway:	n/a	n/a
35	CTCF	chr14:70041500-70041650	GM12878	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
36	CTCF	chr14:70041367-70041770	HepG2	liver:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
37	CTCF	chr14:70041580-70041730	HVMF	connective:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
38	CTCF	chr14:70041540-70041690	AoAF	blood vessel:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
39	CTCF	chr14:70041520-70041670	GM12870	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
40	CTCF	chr14:70041520-70041670	GM06990	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
41	CTCF	chr14:70041540-70041690	HMF	breast:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
42	CTCF	chr14:70041512-70041735	GM13976	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
43	CTCF	chr14:70041520-70041670	GM12872	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
44	CTCF	chr14:70041540-70041690	GM12867	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
45	CTCF	chr14:70041560-70041710	HCFaa	heart:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
46	CTCF	chr14:70041500-70041650	GM12864	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
47	CTCF	chr14:70041520-70041670	SAEC	small airway:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
48	CTCF	chr14:70041468-70041746	A549	lung:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
49	CTCF	chr14:70041540-70041690	Caco-2	colon:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629
50	CTCF	chr14:70041419-70041824	GM12878	blood:	n/a	chr14:70041613-70041626 chr14:70041612-70041628 chr14:70041613-70041626 chr14:70041611-70041629

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70041661-70041711	AG04449	skin:	fetal
2	chr14:70038925-70038975	CMK	blood:	n/a
3	chr14:70038073-70038123	IMR90	lung:	fetal
4	chr14:70041393-70041443	NT2-D1	testis:	n/a
5	chr14:70040391-70040441	HCM	heart:	n/a
6	chr14:70041661-70041711	AG04449	skin:	fetal
7	chr14:70038925-70038975	CMK	blood:	n/a
8	chr14:70038073-70038123	IMR90	lung:	fetal
9	chr14:70041393-70041443	NT2-D1	testis:	n/a
10	chr14:70040391-70040441	HCM	heart:	n/a
11	chr14:70040899-70040949	GM12878	blood:	n/a
12	chr14:70038717-70038767	AG09309	skin:	n/a
13	chr14:70041393-70041443	HCPEpiC	choroid plexus:	n/a
14	chr14:70038884-70038934	GM12892	blood:	n/a
15	chr14:70038949-70038999	SAEC	small airway:	n/a
16	chr14:70038884-70038934	AG04449	skin:	fetal
17	chr14:70039262-70039312	SKMC	muscle:	n/a
18	chr14:70038949-70038999	LNCaP	prostate:	n/a
19	chr14:70039915-70039965	HRE	kidney:	n/a
20	chr14:70040899-70040949	ECC-1	luminal epithelium:	n/a
21	chr14:70038884-70038934	NHBE	bronchial:	n/a
22	chr14:70041214-70041264	RPTEC	kidney:	n/a
23	chr14:70038884-70038934	HEEpiC	esophagus:	n/a
24	chr14:70041283-70041333	HNPCEpiC	eye:	n/a
25	chr14:70041393-70041443	GM06990	blood:	n/a
26	chr14:70041393-70041443	AG04450	lung:	fetal
27	chr14:70038884-70038934	AG10803	skin:	n/a
28	chr14:70038717-70038767	BE2_C	brain:	n/a
29	chr14:70041393-70041443	AG04449	skin:	fetal
30	chr14:70038236-70038286	ovcar-3	ovarian:	n/a
31	chr14:70040899-70040949	MCF-7	breast:	n/a
32	chr14:70038949-70038999	MCF-7	breast:	n/a
33	chr14:70040899-70040949	ovcar-3	ovarian:	n/a
34	chr14:70040899-70040949	AG04449	skin:	fetal
35	chr14:70039262-70039312	AoSMC	blood vessel:	n/a
36	chr14:70039262-70039312	Hepatocyte	liver:	n/a
37	chr14:70040391-70040441	Hela-S3	cervix:	n/a
38	chr14:70038949-70038999	RPTEC	kidney:	n/a
39	chr14:70039915-70039965	HCM	heart:	n/a
40	chr14:70038884-70038934	RPTEC	kidney:	n/a
41	chr14:70039915-70039965	HEEpiC	esophagus:	n/a
42	chr14:70038884-70038934	HEK293	kidney:	embryo
43	chr14:70038949-70038999	ECC-1	luminal epithelium:	n/a
44	chr14:70038925-70038975	HL-60	blood:	n/a
45	chr14:70038505-70038555	U87	brain:	n/a
46	chr14:70040391-70040441	HNPCEpiC	eye:	n/a
47	chr14:70038505-70038555	GM12891	blood:	n/a
48	chr14:70041393-70041443	BE2_C	brain:	n/a
49	chr14:70038925-70038975	NT2-D1	testis:	n/a
50	chr14:70038073-70038123	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
2	chr14:70037278..70041103-chr14:70232570..70234461,4	MCF-7	breast:
3	chr14:70041091..70041642-chr14:70193316..70193928,2	MCF-7	breast:
4	chr14:70031632..70033934-chr14:70036224..70037978,2	MCF-7	breast:
5	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
6	chr14:70002103..70002603-chr14:70041525..70042102,2	K562	blood:
7	chr14:69709466..69710008-chr14:70041288..70042008,2	MCF-7	breast:
8	chr14:70026545..70029008-chr14:70036347..70037973,2	K562	blood:
9	chr14:69970369..69971161-chr14:70041166..70042114,4	MCF-7	breast:
10	chr14:70001699..70002644-chr14:70040741..70042019,6	MCF-7	breast:
11	chr14:70036912..70038706-chr14:70040330..70041890,2	MCF-7	breast:
12	chr14:70001682..70002652-chr14:70041139..70042080,9	MCF-7	breast:
13	chr14:69970362..69971107-chr14:70041144..70041646,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-1	chr14:70036532-70037918	NONHSAT037533

Variant related genes	Relation type
ENSG00000267909	TF binding region
CCDC177	TF binding region
ENSG00000267909	CpG island
CCDC177	CpG island
ENSG00000255994	chromatin interactions
ENSG00000175985	chromatin interactions
ENSG00000244237	chromatin interactions
ENSG00000267909	chromatin interactions
ENSG00000100650	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7494244	chr14:70037611-70037612	ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567876311	chr14:70037657-70037658	ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs188065373	chr14:70037683-70037684	ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs376480298	chr14:70037732-70037733	ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs180754757	chr14:70037739-70037740	ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs539179124	chr14:70037764-70037765	ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs373867306	chr14:70037800-70037801	ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs571019572	chr14:70037840-70037841	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs58984394	chr14:70037917-70037918	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs145323594	chr14:70037929-70037930	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576000955	chr14:70037970-70037971	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs537739727	chr14:70037981-70037982	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116803661	chr14:70038024-70038025	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11848266	chr14:70038045-70038046	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs574256797	chr14:70038078-70038079	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs186006997	chr14:70038117-70038118	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs7140978	chr14:70038136-70038137	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs578129470	chr14:70038168-70038169	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs545220929	chr14:70038213-70038214	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs563693885	chr14:70038262-70038263	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs189683047	chr14:70038292-70038293	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs543652765	chr14:70038335-70038336	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs561666335	chr14:70038381-70038382	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs529018789	chr14:70038382-70038383	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs547171597	chr14:70038408-70038409	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs565566083	chr14:70038418-70038419	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs533041668	chr14:70038434-70038435	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs551228695	chr14:70038471-70038472	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs569592833	chr14:70038500-70038501	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs78363511	chr14:70038555-70038556	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372184432	chr14:70038567-70038568	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs555992807	chr14:70038623-70038624	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181281159	chr14:70038636-70038637	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs535369862	chr14:70038728-70038729	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7142060	chr14:70038786-70038787	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578235601	chr14:70038818-70038819	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs545446780	chr14:70038827-70038828	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs557180286	chr14:70038845-70038846	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369508213	chr14:70038904-70038905	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542669116	chr14:70038933-70038934	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560978456	chr14:70039004-70039005	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529128209	chr14:70039076-70039077	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540973036	chr14:70039218-70039219	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559111245	chr14:70039220-70039221	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs532991181	chr14:70039246-70039247	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs551409308	chr14:70039329-70039330	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs186090620	chr14:70039343-70039344	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs569667443	chr14:70039362-70039363	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs530665858	chr14:70039424-70039425	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs548978631	chr14:70039440-70039441	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	3 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:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70036000-70037800	Weak transcription	Fetal Brain Male	brain
2	chr14:70036600-70039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70036600-70040200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:70036800-70037800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70036800-70038000	Enhancers	Hela-S3	cervix
6	chr14:70036800-70038400	Strong transcription	Brain Germinal Matrix	brain
7	chr14:70037000-70038200	Weak transcription	Gastric	stomach
8	chr14:70037200-70039600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:70037400-70039600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70037400-70040200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr14:70037600-70038000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:70037600-70038000	Strong transcription	Fetal Brain Female	brain
13	chr14:70037600-70039000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:70037600-70039600	Bivalent Enhancer	Placenta	Placenta
15	chr14:70037800-70038000	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr14:70037800-70038200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr14:70037800-70038200	Bivalent Enhancer	Colonic Mucosa	Colon
18	chr14:70037800-70038200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr14:70037800-70038200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
20	chr14:70037800-70038600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr14:70037800-70039600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70037800-70040200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:70037800-70040400	Enhancers	Fetal Brain Male	brain
24	chr14:70038000-70038200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:70038000-70038200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:70038000-70038200	Bivalent Enhancer	Fetal Stomach	stomach
27	chr14:70038000-70038200	Bivalent Enhancer	Ovary	ovary
28	chr14:70038000-70038200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr14:70038000-70038400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:70038000-70038400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:70038000-70038400	ZNF genes & repeats	Fetal Brain Female	brain
32	chr14:70038000-70038600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr14:70038000-70038600	Bivalent Enhancer	Colon Smooth Muscle	Colon
34	chr14:70038000-70038600	Enhancers	Pancreas	Pancrea
35	chr14:70038000-70038600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr14:70038000-70038800	Weak transcription	Hela-S3	cervix
37	chr14:70038000-70039600	Bivalent Enhancer	Fetal Heart	heart
38	chr14:70038000-70040400	Enhancers	Liver	Liver
39	chr14:70038000-70040400	Weak transcription	Brain Angular Gyrus	brain
40	chr14:70038000-70040400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr14:70038000-70040400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr14:70038200-70038400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:70038200-70038400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr14:70038200-70038400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr14:70038200-70038400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr14:70038200-70038400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:70038200-70038400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr14:70038200-70038400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr14:70038200-70038400	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr14:70038200-70038400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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