Variant report

Variant	rs11847881
Chromosome Location	chr14:72491168-72491169
allele	C/T
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	RAD21	chr14:72490679-72491198	MCF-7	breast:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
2	RAD21	chr14:72490459-72491291	HCT-116	colon:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
3	FOSL1	chr14:72489497-72491200	HCT-116	colon:	n/a	chr14:72490362-72490373 chr14:72490367-72490374 chr14:72490369-72490381 chr14:72490366-72490374
4	CTCF	chr14:72491148-72491210	GM12892	blood:	n/a	n/a
5	RAD21	chr14:72490525-72491235	HCT-116	colon:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
6	CTCF	chr14:72490608-72491176	MCF-7	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
7	CTCF	chr14:72490523-72491217	A549	lung:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
8	RAD21	chr14:72490597-72491172	H1-hESC	embryonic stem cell:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
9	RAD21	chr14:72490531-72491190	H1-hESC	embryonic stem cell:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
10	PML	chr14:72489726-72491399	GM12878	blood:	n/a	chr14:72490251-72490259
11	CTCF	chr14:72490551-72491274	MCF-7	breast:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
12	RAD21	chr14:72490668-72491289	GM12878	blood:	n/a	chr14:72490891-72490910 chr14:72490892-72490901
13	CEBPB	chr14:72489676-72491241	GM12878	blood:	n/a	chr14:72490500-72490512
14	RUNX3	chr14:72489833-72491601	GM12878	blood:	n/a	n/a
15	SMC3	chr14:72490665-72491194	GM12878	blood:	n/a	chr14:72490892-72490900 chr14:72490892-72490906
16	CTCF	chr14:72490520-72491236	HCT-116	colon:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
17	CTCF	chr14:72491060-72491210	AG04450	lung:	n/a	n/a
18	CTCF	chr14:72490459-72491316	SK-N-SH	brain:	n/a	chr14:72490891-72490907 chr14:72490893-72490902 chr14:72490890-72490908 chr14:72490893-72490906 chr14:72490892-72490913
19	NFIC	chr14:72489752-72491603	GM12878	blood:	n/a	n/a
20	MTA3	chr14:72490385-72491194	GM12878	blood:	n/a	n/a
21	SP1	chr14:72489507-72491290	HCT-116	colon:	n/a	chr14:72490309-72490323
22	CTCF	chr14:72491120-72491270	BJ	skin:	n/a	n/a
23	SMC3	chr14:72490448-72491168	SK-N-SH	brain:	n/a	chr14:72490892-72490900 chr14:72490892-72490906
24	CTCF	chr14:72491163-72491176	GM19238	blood:	n/a	n/a
25	CTCF	chr14:72491138-72491188	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:72482931..72485550-chr14:72489530..72491362,2	MCF-7	breast:
2	chr14:72489255..72491408-chr14:72757396..72759777,2	MCF-7	breast:
3	chr14:72490629..72491408-chr14:72758856..72759783,5	MCF-7	breast:
4	chr14:72490617..72491401-chr14:72887032..72887742,2	K562	blood:
5	chr14:72398692..72399639-chr14:72490586..72491393,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200298	TF binding region
ENSG00000182732	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11844223	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11844287	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845023	1.00[CEU][hapmap];0.80[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846804	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11846808	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846932	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11846989	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11848888	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11849072	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11850239	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851082	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851575	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11852228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17768491	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2012352	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2012354	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4262883	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4374087	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4383069	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899417	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899418	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902979	1.00[CEU][hapmap];0.80[YRI][hapmap]
rs4902980	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56098489	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56879125	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57851285	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58117647	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59008832	1.00[EUR][1000 genomes]
rs60103614	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60517172	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734424	1.00[CEU][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734425	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734426	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734427	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060456	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060461	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74060464	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063026	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063030	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053520	chr14:72485195-72537202	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72489600-72491200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:72489600-72491200	Enhancers	Adipose Nuclei	Adipose
3	chr14:72489600-72491200	Enhancers	GM12878-XiMat	blood
4	chr14:72489800-72491600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:72490000-72494800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72490200-72491200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr14:72490200-72491200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:72490200-72491600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:72490400-72491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:72490400-72491200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:72490400-72491200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:72490400-72491200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:72490400-72491200	Enhancers	Left Ventricle	heart
14	chr14:72490600-72491200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:72490800-72491200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:72490800-72491200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:72490800-72491400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:72490800-72491600	Enhancers	NHEK	skin
19	chr14:72491000-72491400	Enhancers	Right Atrium	heart
20	chr14:72491000-72491800	Enhancers	Fetal Heart	heart

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