Variant report

Variant	rs12755267
Chromosome Location	chr1:86350554-86350555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:86350310-86350719	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:86350420-86350570	AG09319	gingival:	n/a	n/a
3	RAD21	chr1:86350299-86350692	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr1:86350420-86350570	HPF	lung:	n/a	n/a
5	CTCF	chr1:86350291-86350679	HepG2	liver:	n/a	n/a
6	RAD21	chr1:86350278-86350679	IMR90	lung:	n/a	n/a
7	CTCF	chr1:86350460-86350610	GM12868	blood:	n/a	n/a
8	CTCF	chr1:86350460-86350610	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr1:86350440-86350590	HRPEpiC	eye:	n/a	n/a
10	CTCF	chr1:86350390-86350597	Medullo	brain:	n/a	n/a
11	CTCF	chr1:86350460-86350610	SAEC	small airway:	n/a	n/a
12	CTCF	chr1:86350440-86350590	HepG2	liver:	n/a	n/a
13	CTCF	chr1:86350396-86350608	K562	blood:	n/a	n/a
14	CTCF	chr1:86350420-86350570	SK-N-SH_RA	brain:	n/a	n/a
15	RAD21	chr1:86350259-86350794	HCT-116	colon:	n/a	n/a
16	RAD21	chr1:86350276-86350763	HCT-116	colon:	n/a	n/a
17	CTCF	chr1:86350440-86350590	GM12875	blood:	n/a	n/a
18	RAD21	chr1:86350312-86350668	HepG2	liver:	n/a	n/a
19	RAD21	chr1:86350267-86350694	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr1:86350328-86350646	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:86350440-86350590	AG04450	lung:	n/a	n/a
22	SMC3	chr1:86350303-86350678	HepG2	liver:	n/a	n/a
23	CTCF	chr1:86350460-86350610	NHLF	lung:	n/a	n/a
24	CTCF	chr1:86350381-86350601	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr1:86350440-86350590	MCF-7	breast:	n/a	n/a
26	RAD21	chr1:86350260-86350770	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr1:86350420-86350570	HEK293	kidney:	n/a	n/a
28	CTCF	chr1:86350460-86350610	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr1:86350420-86350570	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr1:86350420-86350570	HVMF	connective:	n/a	n/a
31	CTCF	chr1:86350420-86350570	BE2_C	brain:	n/a	n/a
32	CTCF	chr1:86350420-86350570	GM12864	blood:	n/a	n/a
33	CTCF	chr1:86350422-86350605	MCF-7	breast:	n/a	n/a
34	CTCF	chr1:86350401-86350602	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr1:86350460-86350610	AG09309	skin:	n/a	n/a
36	CTCF	chr1:86350460-86350610	GM12865	blood:	n/a	n/a
37	CTCF	chr1:86350480-86350630	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr1:86350420-86350570	HepG2	liver:	n/a	n/a
39	CTCF	chr1:86350420-86350570	GM12873	blood:	n/a	n/a
40	CTCF	chr1:86350447-86350582	LNCaP	prostate:	n/a	n/a
41	CTCF	chr1:86350440-86350590	HRE	kidney:	n/a	n/a
42	CTCF	chr1:86350443-86350601	Kidney_OC	kidney:	n/a	n/a
43	RAD21	chr1:86350286-86350678	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:86350011-86350812	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr1:86350384-86350610	HUVEC	blood vessel:	n/a	n/a
46	RAD21	chr1:86350346-86350693	HepG2	liver:	n/a	n/a
47	RAD21	chr1:86350245-86350720	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:86350440-86350590	SAEC	small airway:	n/a	n/a
49	CTCF	chr1:86350420-86350570	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr1:86350460-86350610	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86173609..86174719-chr1:86349901..86350977,5	MCF-7	breast:
2	chr1:86349495..86351039-chr1:86359014..86361069,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP51	TF binding region
ENSG00000117174	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11161689	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs11161691	0.86[EUR][1000 genomes]
rs11161692	0.87[EUR][1000 genomes]
rs11161694	0.87[EUR][1000 genomes]
rs11161698	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs11161702	0.86[AMR][1000 genomes]
rs11589719	1.00[CHB][hapmap]
rs11589722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11799965	0.89[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs11803202	0.90[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes]
rs11811165	0.92[CHB][hapmap]
rs12091504	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs12240129	0.95[CEU][hapmap]
rs12562000	1.00[CHB][hapmap]
rs12564528	0.92[CHB][hapmap]
rs12567327	0.92[CHB][hapmap]
rs12569293	1.00[CHB][hapmap]
rs12723176	0.94[CEU][hapmap]
rs12725203	0.88[EUR][1000 genomes]
rs12725350	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12726975	0.87[EUR][1000 genomes]
rs12727503	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12731603	0.87[EUR][1000 genomes]
rs12732365	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs12734458	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12735496	0.88[EUR][1000 genomes]
rs12736249	0.94[CEU][hapmap]
rs12739200	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12739425	0.88[EUR][1000 genomes]
rs12739620	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12740060	0.95[CEU][hapmap]
rs12740827	0.88[EUR][1000 genomes]
rs12740836	0.88[EUR][1000 genomes]
rs12745489	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs12746617	0.86[EUR][1000 genomes]
rs12747217	0.94[CEU][hapmap]
rs12747420	0.86[EUR][1000 genomes]
rs12751341	0.89[CEU][hapmap]
rs12752474	0.86[EUR][1000 genomes]
rs12753255	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs12755099	0.85[EUR][1000 genomes]
rs12755570	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12757388	0.88[EUR][1000 genomes]
rs12759687	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs1604567	0.86[EUR][1000 genomes]
rs17128505	0.92[CHB][hapmap]
rs17128521	0.92[CHB][hapmap]
rs2086495	0.87[EUR][1000 genomes]
rs2170331	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs28415684	0.83[EUR][1000 genomes]
rs28571037	0.82[EUR][1000 genomes]
rs35545564	0.87[EUR][1000 genomes]
rs35556419	0.83[AMR][1000 genomes]
rs35841238	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6657706	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs6665006	0.94[CEU][hapmap]
rs67487620	0.82[EUR][1000 genomes]
rs7520948	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7523196	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7530839	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs7539765	0.87[EUR][1000 genomes]
rs7542433	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554796	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7556366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999743	chr1:86241246-86364846	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1011293	chr1:86270649-86416972	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv871189	chr1:86315724-86402244	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv1810714	chr1:86339811-86392577	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv823409	chr1:86342838-86352563	Strong transcription Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86342400-86370600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:86345600-86370600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:86347000-86366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86349800-86350800	Enhancers	Dnd41	blood

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