Variant report

Variant	esv274972
Chromosome Location	chr15:76483342-76485536
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	ARID3A	chr15:76483064-76483427	HepG2	liver:	n/a	n/a
2	ATF2	chr15:76483089-76483813	GM12878	blood:	n/a	n/a
3	BACH1	chr15:76483297-76483365	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr15:76482892-76483810	A549	lung:	n/a	n/a
5	BHLHE40	chr15:76483122-76483431	K562	blood:	n/a	n/a
6	BHLHE40	chr15:76483088-76483437	GM12878	blood:	n/a	n/a
7	BRCA1	chr15:76483167-76483490	HepG2	liver:	n/a	chr15:76483441-76483448
8	BRCA1	chr15:76483134-76483378	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr15:76483097-76483525	Hela-S3	cervix:	n/a	chr15:76483441-76483448
10	CEBPB	chr15:76482803-76483407	MCF-7	breast:	n/a	n/a
11	CEBPB	chr15:76482808-76483429	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr15:76482949-76483412	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr15:76483082-76483493	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr15:76483093-76483441	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr15:76483160-76483398	HepG2	liver:	n/a	n/a
16	CHD2	chr15:76483147-76483430	K562	blood:	n/a	n/a
17	CTCF	chr15:76483240-76483390	WI-38	lung:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
18	CTCF	chr15:76483103-76483421	MCF-7	breast:	n/a	chr15:76483318-76483326 chr15:76483269-76483290 chr15:76483268-76483284 chr15:76483267-76483285 chr15:76483271-76483278
19	CTCF	chr15:76483200-76483350	HFF-Myc	foreskin:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
20	CTCF	chr15:76483043-76484008	GM12878	blood:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483801-76483814 chr15:76483318-76483326
21	CTCF	chr15:76483052-76483451	K562	blood:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
22	CTCF	chr15:76483122-76483391	GM10248	blood:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
23	CTCF	chr15:76483220-76483370	HMF	breast:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
24	CTCF	chr15:76483200-76483350	HMEC	breast:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
25	CTCF	chr15:76483740-76483890	GM12872	blood:	n/a	chr15:76483801-76483814
26	CTCF	chr15:76483760-76483910	GM12865	blood:	n/a	chr15:76483801-76483814
27	CTCF	chr15:76483118-76483462	SK-N-SH_RA	brain:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
28	CTCF	chr15:76483220-76483370	HRPEpiC	eye:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
29	CTCF	chr15:76483720-76483870	A549	lung:	n/a	chr15:76483801-76483814
30	CTCF	chr15:76483041-76483482	K562	blood:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
31	CTCF	chr15:76483119-76483431	Spleen_OC	spleen:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
32	CTCF	chr15:76483680-76483830	HepG2	liver:	n/a	chr15:76483801-76483814
33	CTCF	chr15:76483700-76483850	GM12874	blood:	n/a	chr15:76483801-76483814
34	CTCF	chr15:76483758-76483885	GM10248	blood:	n/a	chr15:76483801-76483814
35	CTCF	chr15:76483634-76483761	GM13977	blood:	n/a	n/a
36	CTCF	chr15:76483760-76483910	GM06990	blood:	n/a	chr15:76483801-76483814
37	CTCF	chr15:76483660-76483810	GM12869	blood:	n/a	n/a
38	CTCF	chr15:76483200-76483350	GM12871	blood:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
39	CTCF	chr15:76483200-76483350	AoAF	blood vessel:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
40	CTCF	chr15:76483700-76483850	GM06990	blood:	n/a	chr15:76483801-76483814
41	CTCF	chr15:76483147-76483375	GM20000	blood:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
42	CTCF	chr15:76483760-76483910	GM12868	blood:	n/a	chr15:76483801-76483814
43	CTCF	chr15:76483703-76483920	GM12892	blood:	n/a	chr15:76483801-76483814
44	CTCF	chr15:76483220-76483370	Caco-2	colon:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
45	CTCF	chr15:76483127-76483397	MCF-7	breast:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
46	CTCF	chr15:76483200-76483350	NHLF	lung:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
47	CTCF	chr15:76483720-76483870	GM12873	blood:	n/a	chr15:76483801-76483814
48	CTCF	chr15:76483023-76483491	A549	lung:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
49	CTCF	chr15:76483200-76483350	SK-N-SH_RA	brain:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326
50	CTCF	chr15:76483200-76483350	GM12872	blood:	n/a	chr15:76483268-76483284 chr15:76483269-76483290 chr15:76483271-76483278 chr15:76483267-76483285 chr15:76483318-76483326

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76483344-76483394	HAEpiC	amniotic membrane:	n/a
2	chr15:76484379-76484429	AG04450	lung:	fetal
3	chr15:76484625-76484675	CMK	blood:	n/a
4	chr15:76484102-76484152	AG09319	gingival:	n/a
5	chr15:76484473-76484523	Hela-S3	cervix:	n/a
6	chr15:76484102-76484152	Caco-2	colon:	n/a
7	chr15:76484102-76484152	SKMC	muscle:	n/a
8	chr15:76483344-76483394	HCPEpiC	choroid plexus:	n/a
9	chr15:76484379-76484429	Caco-2	colon:	n/a
10	chr15:76484473-76484523	HAEpiC	amniotic membrane:	n/a
11	chr15:76484473-76484523	NT2-D1	testis:	n/a
12	chr15:76483344-76483394	SKMC	muscle:	n/a
13	chr15:76484625-76484675	NT2-D1	testis:	n/a
14	chr15:76484379-76484429	GM19239	blood:	n/a
15	chr15:76484473-76484523	HIPEpiC	eye:	n/a
16	chr15:76483344-76483394	LNCaP	prostate:	n/a
17	chr15:76484473-76484523	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:76483344-76483394	U87	brain:	n/a
19	chr15:76484473-76484523	HRE	kidney:	n/a
20	chr15:76484473-76484523	U87	brain:	n/a
21	chr15:76484473-76484523	GM12878	blood:	n/a
22	chr15:76484473-76484523	ovcar-3	ovarian:	n/a
23	chr15:76484473-76484523	MCF-7	breast:	n/a
24	chr15:76484102-76484152	AG04449	skin:	fetal
25	chr15:76484379-76484429	HEEpiC	esophagus:	n/a
26	chr15:76483344-76483394	AoSMC	blood vessel:	n/a
27	chr15:76484379-76484429	HEK293	kidney:	embryo
28	chr15:76484379-76484429	GM12891	blood:	n/a
29	chr15:76484102-76484152	HCT-116	colon:	n/a
30	chr15:76484102-76484152	NHDF-neo	bronchial:	n/a
31	chr15:76484379-76484429	HUVEC	blood vessel:	n/a
32	chr15:76484379-76484429	HCM	heart:	n/a
33	chr15:76484473-76484523	PrEC	prostate:	n/a
34	chr15:76484473-76484523	H1-hESC	embryonic stem cell:	embryo
35	chr15:76484379-76484429	GM12878	blood:	n/a
36	chr15:76484625-76484675	Hela-S3	cervix:	n/a
37	chr15:76483344-76483394	HRCEpiC	kidney:	n/a
38	chr15:76484625-76484675	BJ	skin:	n/a
39	chr15:76484625-76484675	BE2_C	brain:	n/a
40	chr15:76483344-76483394	AG09309	skin:	n/a
41	chr15:76483344-76483394	NT2-D1	testis:	n/a
42	chr15:76484473-76484523	HCM	heart:	n/a
43	chr15:76483344-76483394	Hela-S3	cervix:	n/a
44	chr15:76484102-76484152	CMK	blood:	n/a
45	chr15:76483344-76483394	HCF	heart:	n/a
46	chr15:76484379-76484429	HL-60	blood:	n/a
47	chr15:76484102-76484152	AG09309	skin:	n/a
48	chr15:76484473-76484523	IMR90	lung:	fetal
49	chr15:76484473-76484523	A549	lung:	n/a
50	chr15:76484379-76484429	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76482702..76486394-chr15:76633656..76636389,3	K562	blood:
2	chr15:76483018..76483722-chr15:76622624..76623279,3	K562	blood:
3	chr15:76484065..76486868-chr15:76602060..76604082,2	MCF-7	breast:
4	chr15:76482840..76483720-chr15:77132911..77133894,4	MCF-7	breast:
5	chr15:76484853..76487491-chr15:76488798..76492049,5	K562	blood:
6	chr15:76482740..76483457-chr15:76626133..76626814,2	MCF-7	breast:
7	chr15:76482829..76483665-chr15:77158796..77159907,4	MCF-7	breast:
8	chr15:76482924..76483751-chr15:76625816..76626899,5	MCF-7	breast:
9	chr15:76483023..76483731-chr15:76527305..76528242,4	MCF-7	breast:
10	chr15:76483246..76483790-chr15:77158830..77159724,2	K562	blood:
11	chr15:76482420..76485297-chr15:76485451..76488299,2	K562	blood:
12	chr15:76482689..76486583-chr15:76628039..76631365,3	K562	blood:
13	chr15:76472338..76474227-chr15:76482406..76484297,2	K562	blood:
14	chr15:76483216..76483808-chr15:76625887..76626857,3	K562	blood:
15	chr15:76481529..76484202-chr15:76633877..76636476,2	K562	blood:
16	chr15:76482820..76483740-chr15:76577311..76578273,3	K562	blood:
17	chr15:76482846..76483696-chr15:76577399..76578194,4	MCF-7	breast:

Variant related genes	Relation type
C15orf27	TF binding region
C15orf27	CpG island
ENSG00000140374	chromatin interactions
ENSG00000159556	chromatin interactions
ENSG00000259422	chromatin interactions
ENSG00000169758	chromatin interactions
ENSG00000270036	chromatin interactions
ENSG00000259514	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12901160	chr15:76483342-76483343	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540734134	chr15:76483394-76483395	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs74326901	chr15:76483467-76483468	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs182072447	chr15:76483489-76483490	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs541602602	chr15:76483510-76483511	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs375527811	chr15:76483599-76483600	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs563468467	chr15:76483627-76483628	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs147059856	chr15:76483666-76483667	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs562196457	chr15:76483672-76483673	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs575190863	chr15:76483719-76483720	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs552158767	chr15:76483724-76483725	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs571626072	chr15:76483772-76483773	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs138354698	chr15:76483788-76483789	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs547958202	chr15:76483790-76483791	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs566156839	chr15:76483791-76483792	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs536884232	chr15:76483819-76483820	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555162724	chr15:76483861-76483862	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs570125026	chr15:76483884-76483885	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs544095920	chr15:76483893-76483894	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563740345	chr15:76483933-76483934	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs577175274	chr15:76483995-76483996	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537753951	chr15:76484040-76484041	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs558943038	chr15:76484053-76484054	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs576811474	chr15:76484094-76484095	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs2469540	chr15:76484130-76484131	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149589241	chr15:76484136-76484137	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs113637996	chr15:76484144-76484145	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs144322292	chr15:76484173-76484174	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs541490192	chr15:76484199-76484200	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs563518529	chr15:76484200-76484201	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs530571797	chr15:76484258-76484259	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs78438628	chr15:76484269-76484270	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs564221346	chr15:76484270-76484271	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs532578638	chr15:76484271-76484272	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs34327579	chr15:76484290-76484291	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs547797899	chr15:76484294-76484295	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs148774197	chr15:76484295-76484296	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs368640787	chr15:76484348-76484349	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs530243474	chr15:76484350-76484351	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs202140844	chr15:76484365-76484366	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs570238299	chr15:76484380-76484381	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs186450715	chr15:76484442-76484443	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs190417970	chr15:76484458-76484459	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs141566322	chr15:76484464-76484465	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs534350468	chr15:76484498-76484499	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs552564746	chr15:76484520-76484521	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs574065572	chr15:76484523-76484524	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs560224495	chr15:76484543-76484544	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs528967380	chr15:76484548-76484549	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs11631826	chr15:76484551-76484552	Weak transcription Genic enhancers Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76478200-76488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:76478600-76487800	Weak transcription	Right Atrium	heart
3	chr15:76479800-76487400	Weak transcription	Psoas Muscle	Psoas
4	chr15:76481800-76484800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:76482600-76483600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:76482600-76483800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:76482600-76484200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr15:76482600-76484400	Enhancers	Spleen	Spleen
9	chr15:76482600-76484600	Enhancers	Gastric	stomach
10	chr15:76482800-76483400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr15:76482800-76483400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr15:76482800-76483400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr15:76482800-76483400	Bivalent Enhancer	Placenta	Placenta
14	chr15:76482800-76483400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr15:76482800-76483600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:76482800-76483600	Enhancers	Fetal Heart	heart
17	chr15:76482800-76483600	Flanking Active TSS	Hela-S3	cervix
18	chr15:76482800-76483800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:76482800-76483800	Enhancers	HMEC	breast
20	chr15:76482800-76484000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:76482800-76484200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr15:76482800-76484200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr15:76482800-76484200	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr15:76482800-76484400	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr15:76483000-76483400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:76483000-76483400	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr15:76483000-76483400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr15:76483000-76483400	Enhancers	Ovary	ovary
29	chr15:76483000-76483400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr15:76483000-76483600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:76483000-76483600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr15:76483000-76483600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:76483000-76483600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:76483000-76483600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:76483000-76483600	Active TSS	Colonic Mucosa	Colon
36	chr15:76483000-76483600	Bivalent Enhancer	Fetal Kidney	kidney
37	chr15:76483000-76483600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr15:76483000-76483600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr15:76483000-76483600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr15:76483000-76483600	Enhancers	K562	blood
41	chr15:76483000-76483600	Enhancers	NH-A	brain
42	chr15:76483000-76483600	Bivalent Enhancer	NHLF	lung
43	chr15:76483000-76483800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr15:76483000-76483800	Enhancers	Liver	Liver
45	chr15:76483000-76483800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr15:76483000-76483800	Bivalent Enhancer	Fetal Brain Male	brain
47	chr15:76483000-76483800	Enhancers	HUVEC	blood vessel
48	chr15:76483000-76483800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr15:76483000-76484000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr15:76483000-76484000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links