Variant report

Variant	esv3357015
Chromosome Location	chr14:69950224-69952772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:795)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:69950648-69951056	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr14:69950226-69950924	ECC-1	luminal epithelium:	n/a	n/a
3	CHD2	chr14:69950982-69951100	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr14:69950474-69951751	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr14:69951540-69951690	HepG2	liver:	n/a	n/a
6	CTCF	chr14:69951462-69951564	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr14:69951468-69951553	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:69950880-69951030	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:69950580-69950730	Caco-2	colon:	n/a	n/a
10	CTCF	chr14:69951400-69951550	AG04449	skin:	n/a	n/a
11	CTCF	chr14:69951360-69951510	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:69950600-69950750	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr14:69951456-69951545	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:69951340-69951490	GM12871	blood:	n/a	n/a
15	CTCF	chr14:69951440-69951590	SK-N-SH_RA	brain:	n/a	n/a
16	E2F6	chr14:69950615-69951619	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
17	E2F6	chr14:69950805-69951967	H1-hESC	embryonic stem cell:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
18	ELF1	chr14:69950424-69951973	MCF-7	breast:	n/a	chr14:69951225-69951237 chr14:69951656-69951668 chr14:69950813-69950825 chr14:69950812-69950821 chr14:69950815-69950824
19	EP300	chr14:69950338-69951140	ECC-1	luminal epithelium:	n/a	chr14:69950814-69950823
20	EP300	chr14:69950137-69951706	ECC-1	luminal epithelium:	n/a	chr14:69951282-69951291 chr14:69950814-69950823 chr14:69951543-69951559
21	ESR1	chr14:69950262-69950928	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr14:69950314-69951024	ECC-1	luminal epithelium:	n/a	n/a
23	ESR1	chr14:69950322-69950903	ECC-1	luminal epithelium:	n/a	n/a
24	FOXM1	chr14:69950246-69951225	ECC-1	luminal epithelium:	n/a	n/a
25	GABPA	chr14:69950523-69951033	H1-hESC	embryonic stem cell:	n/a	n/a
26	GABPA	chr14:69950401-69951292	MCF-7	breast:	n/a	chr14:69951187-69951196 chr14:69951282-69951291
27	GATA3	chr14:69950556-69950878	T-47D	breast:	n/a	n/a
28	HA-E2F1	chr14:69950256-69951777	MCF-7	breast:	n/a	chr14:69951340-69951349 chr14:69950813-69950823
29	HDAC2	chr14:69950359-69951785	MCF-7	breast:	n/a	n/a
30	HDAC2	chr14:69951360-69951664	HepG2	liver:	n/a	n/a
31	HDAC2	chr14:69950530-69951309	MCF-7	breast:	n/a	n/a
32	MAX	chr14:69950865-69951399	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr14:69950476-69951987	MCF-7	breast:	n/a	n/a
34	MAX	chr14:69950187-69951692	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr14:69951026-69951053	HepG2	liver:	n/a	n/a
36	MAX	chr14:69950369-69951928	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr14:69950939-69951211	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr14:69950230-69951884	ECC-1	luminal epithelium:	n/a	n/a
39	MXI1	chr14:69950949-69951090	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr14:69950685-69950769	MCF-7	breast:	n/a	n/a
41	MYC	chr14:69951059-69951062	MCF-7	breast:	n/a	n/a
42	MYC	chr14:69950798-69950843	MCF-7	breast:	n/a	n/a
43	MYC	chr14:69950729-69950734	MCF-7	breast:	n/a	n/a
44	MYC	chr14:69950668-69950721	MCF-7	breast:	n/a	n/a
45	MYC	chr14:69950986-69951055	MCF-7	breast:	n/a	n/a
46	MYC	chr14:69951667-69951790	MCF-7	breast:	n/a	n/a
47	MYC	chr14:69951209-69951254	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr14:69950922-69951147	MCF-7	breast:	n/a	n/a
49	NFIC	chr14:69950115-69951327	ECC-1	luminal epithelium:	n/a	n/a
50	NFIC	chr14:69950182-69951608	ECC-1	luminal epithelium:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69951781-69951831	HRCEpiC	kidney:	n/a
2	chr14:69950574-69950624	ECC-1	luminal epithelium:	n/a
3	chr14:69951781-69951831	HRCEpiC	kidney:	n/a
4	chr14:69950574-69950624	ECC-1	luminal epithelium:	n/a
5	chr14:69951720-69951770	SK-N-MC	brain:	n/a
6	chr14:69951839-69951889	Jurkat	blood:	n/a
7	chr14:69951720-69951770	HEEpiC	esophagus:	n/a
8	chr14:69951322-69951372	AoSMC	blood vessel:	n/a
9	chr14:69951495-69951545	HRE	kidney:	n/a
10	chr14:69951422-69951472	HepG2	liver:	n/a
11	chr14:69951781-69951831	CMK	blood:	n/a
12	chr14:69951311-69951361	BJ	skin:	n/a
13	chr14:69951839-69951889	ECC-1	luminal epithelium:	n/a
14	chr14:69951495-69951545	GM06990	blood:	n/a
15	chr14:69950574-69950624	SAEC	small airway:	n/a
16	chr14:69952003-69952053	SK-N-MC	brain:	n/a
17	chr14:69951372-69951422	NB4	blood:	n/a
18	chr14:69952003-69952053	SKMC	muscle:	n/a
19	chr14:69951720-69951770	Caco-2	colon:	n/a
20	chr14:69951372-69951422	NH-A	brain:	n/a
21	chr14:69951305-69951355	AG09319	gingival:	n/a
22	chr14:69951322-69951372	SK-N-SH	brain:	n/a
23	chr14:69951372-69951422	U87	brain:	n/a
24	chr14:69951720-69951770	HepG2	liver:	n/a
25	chr14:69951839-69951889	HRPEpiC	eye:	n/a
26	chr14:69951305-69951355	T-47D	breast:	n/a
27	chr14:69951211-69951261	MCF-7	breast:	n/a
28	chr14:69951839-69951889	NB4	blood:	n/a
29	chr14:69951839-69951889	PANC-1	pancreas:	n/a
30	chr14:69952104-69952154	SK-N-MC	brain:	n/a
31	chr14:69951781-69951831	SKMC	muscle:	n/a
32	chr14:69951781-69951831	T-47D	breast:	n/a
33	chr14:69951322-69951372	HEK293	kidney:	embryo
34	chr14:69951305-69951355	PrEC	prostate:	n/a
35	chr14:69951839-69951889	GM12892	blood:	n/a
36	chr14:69950574-69950624	AG04450	lung:	fetal
37	chr14:69951720-69951770	SK-N-SH	brain:	n/a
38	chr14:69951422-69951472	NHBE	bronchial:	n/a
39	chr14:69952104-69952154	AG09319	gingival:	n/a
40	chr14:69951422-69951472	HNPCEpiC	eye:	n/a
41	chr14:69951211-69951261	GM12892	blood:	n/a
42	chr14:69951781-69951831	HUVEC	blood vessel:	n/a
43	chr14:69951372-69951422	PrEC	prostate:	n/a
44	chr14:69951422-69951472	SKMC	muscle:	n/a
45	chr14:69951781-69951831	NB4	blood:	n/a
46	chr14:69951422-69951472	GM12891	blood:	n/a
47	chr14:69951305-69951355	HCPEpiC	choroid plexus:	n/a
48	chr14:69951372-69951422	AG09319	gingival:	n/a
49	chr14:69951305-69951355	HepG2	liver:	n/a
50	chr14:69951422-69951472	BE2_C	brain:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69950456..69952040-chr14:70233397..70235258,2	MCF-7	breast:
2	chr14:69949714..69952374-chr14:70039182..70041131,3	MCF-7	breast:
3	chr14:69952428..69953410-chr5:19316375..19317263,2	MCF-7	breast:
4	chr14:69947992..69950774-chr14:69962839..69965833,3	K562	blood:
5	chr14:69862767..69865090-chr14:69948473..69950881,2	MCF-7	breast:
6	chr14:69947992..69950774-chr14:69962839..69965276,2	K562	blood:
7	chr14:69951736..69954477-chr14:69954891..69957562,2	MCF-7	breast:
8	chr14:69951841..69953361-chr7:104652261..104653928,2	MCF-7	breast:
9	chr14:69947861..69950985-chr14:69958572..69961159,3	MCF-7	breast:
10	chr14:69946123..69947705-chr14:69948349..69951147,2	MCF-7	breast:
11	chr14:69951860..69952360-chr7:104652907..104653592,2	Hela-S3	cervix:
12	chr14:69949476..69951469-chr14:70232962..70234565,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHD1	TF binding region
PLEKHD1	CpG island
ENSG00000228393	chromatin interactions
ENSG00000267909	chromatin interactions
ENSG00000100632	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000029364	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539434721	chr14:69950226-69950227	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs189461098	chr14:69950228-69950229	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs576814358	chr14:69950369-69950370	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs565193487	chr14:69950371-69950372	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs112554910	chr14:69950395-69950396	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs74061833	chr14:69950448-69950449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555989881	chr14:69950482-69950483	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs574211839	chr14:69950522-69950523	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs541136254	chr14:69950524-69950525	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs61079350	chr14:69950564-69950565	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs186582201	chr14:69950593-69950594	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs190261225	chr14:69950615-69950616	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs563389578	chr14:69950668-69950669	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs140222837	chr14:69950721-69950722	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs550753755	chr14:69950738-69950739	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs549697948	chr14:69950775-69950776	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs531759328	chr14:69950782-69950783	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs372952383	chr14:69950787-69950788	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs181869442	chr14:69950795-69950796	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs567890726	chr14:69950799-69950800	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs12436172	chr14:69950865-69950866	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs547143523	chr14:69950869-69950870	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs565777896	chr14:69950877-69950878	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs539016670	chr14:69950880-69950881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs557787374	chr14:69950899-69950900	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs114818706	chr14:69950907-69950908	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs530253238	chr14:69951034-69951035	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs537727595	chr14:69951046-69951047	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs556125018	chr14:69951049-69951050	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532514722	chr14:69951060-69951061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs541619777	chr14:69951085-69951086	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs150329324	chr14:69951087-69951088	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs578047357	chr14:69951091-69951092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs566884325	chr14:69951161-69951162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371488769	chr14:69951169-69951170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs566796317	chr14:69951183-69951184	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs530840836	chr14:69951242-69951243	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs543286858	chr14:69951243-69951244	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs57617828	chr14:69951255-69951256	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs533950127	chr14:69951286-69951287	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs186434345	chr14:69951289-69951290	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs2247272	chr14:69951308-69951309	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs565785924	chr14:69951321-69951322	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376548853	chr14:69951328-69951329	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs533039559	chr14:69951339-69951340	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs10150434	chr14:69951377-69951378	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569649774	chr14:69951386-69951387	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs117998457	chr14:69951411-69951412	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556053384	chr14:69951422-69951423	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs375022389	chr14:69951671-69951672	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Hematopoietic stem cell	20738155	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69923600-69950400	Weak transcription	Gastric	stomach
2	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
3	chr14:69948600-69950400	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr14:69949200-69950600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr14:69949400-69950400	Weak transcription	Lung	lung
6	chr14:69949400-69950400	Weak transcription	Psoas Muscle	Psoas
7	chr14:69949800-69952600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr14:69950000-69950400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:69950000-69950600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:69950000-69950600	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr14:69950000-69950600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr14:69950200-69950400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
13	chr14:69950200-69950400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
14	chr14:69950200-69950400	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr14:69950200-69950400	Enhancers	HSMM	muscle
16	chr14:69950200-69950800	Enhancers	Liver	Liver
17	chr14:69950400-69950600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr14:69950400-69950600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:69950400-69950600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:69950400-69950600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:69950400-69950600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:69950400-69950600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:69950400-69950600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr14:69950400-69950600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69950400-69950600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:69950400-69950600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:69950400-69950600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:69950400-69950600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:69950400-69950600	Bivalent/Poised TSS	Colonic Mucosa	Colon
30	chr14:69950400-69950600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr14:69950400-69950600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr14:69950400-69950600	Bivalent Enhancer	Fetal Heart	heart
33	chr14:69950400-69950600	Enhancers	Gastric	stomach
34	chr14:69950400-69950600	Enhancers	Left Ventricle	heart
35	chr14:69950400-69950600	Active TSS	Pancreas	Pancrea
36	chr14:69950400-69950600	Flanking Active TSS	Psoas Muscle	Psoas
37	chr14:69950400-69950600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
38	chr14:69950400-69950600	Active TSS	Right Ventricle	heart
39	chr14:69950400-69950600	Bivalent Enhancer	HepG2	liver
40	chr14:69950400-69950800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:69950400-69950800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:69950400-69950800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
43	chr14:69950400-69950800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
44	chr14:69950400-69950800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr14:69950400-69950800	Bivalent Enhancer	Placenta	Placenta
46	chr14:69950400-69950800	Enhancers	Lung	lung
47	chr14:69950400-69950800	Active TSS	Right Atrium	heart
48	chr14:69950400-69950800	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr14:69950400-69950800	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr14:69950400-69950800	Flanking Active TSS	HSMM	muscle

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