Variant report

Variant	rs11847573
Chromosome Location	chr14:22355743-22355744
allele	A/G
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	chr14:22355703-22356017	H1-hESC	embryonic stem cell:	n/a	chr14:22355845-22355857 chr14:22355840-22355859 chr14:22355844-22355853
2	CTCF	chr14:22355720-22355870	NHEK	skin:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
3	CTCF	chr14:22355740-22355890	HEK293	kidney:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
4	CTCF	chr14:22355640-22355790	HCT-116	colon:	n/a	n/a
5	GATA2	chr14:22355647-22356082	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr14:22355712-22355938	HUVEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
7	CTCF	chr14:22355740-22355890	Caco-2	colon:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
8	CTCF	chr14:22355720-22355870	HMEC	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
9	JUN	chr14:22355588-22355934	HUVEC	blood vessel:	n/a	n/a
10	GATA3	chr14:22355633-22356067	MCF-7	breast:	n/a	n/a
11	CTCF	chr14:22355740-22355890	HUVEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
12	CTCF	chr14:22355720-22355870	RPTEC	kidney:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
13	GATA3	chr14:22355477-22356046	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:22355720-22355870	HBMEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
15	CTCF	chr14:22355600-22355870	HMEC	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
16	CTCF	chr14:22355740-22355890	HCPEpiC	choroid plexus:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
17	CTCF	chr14:22355740-22355890	SAEC	small airway:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
18	CTCF	chr14:22355740-22355890	HBMEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
19	CTCF	chr14:22355680-22355830	RPTEC	kidney:	n/a	n/a
20	CTCF	chr14:22355720-22355870	GM12872	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
21	RAD21	chr14:22355702-22355971	H1-hESC	embryonic stem cell:	n/a	chr14:22355845-22355857 chr14:22355840-22355859 chr14:22355844-22355853
22	ZNF263	chr14:22355675-22356222	HEK293-T-REx	kidney:	n/a	n/a
23	FOS	chr14:22355547-22355952	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr14:22355720-22355870	GM06990	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
25	CTCF	chr14:22355582-22356087	MCF-7	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
26	FOXA2	chr14:22355621-22355989	A549	lung:	n/a	n/a
27	CTCF	chr14:22355740-22355890	HRE	kidney:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857

Variant related genes	Relation type
TRAV12-2	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10129717	0.81[EUR][1000 genomes]
rs11851408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17182881	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075479	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075480	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2103414	0.81[EUR][1000 genomes]
rs2293714	0.81[EUR][1000 genomes]
rs2293715	0.81[EUR][1000 genomes]
rs2293716	0.81[EUR][1000 genomes]
rs28869284	0.81[EUR][1000 genomes]
rs4145426	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4491419	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7148962	0.81[EUR][1000 genomes]
rs8012435	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8014218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv832741	chr14:22235781-22413637	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv3387723	chr14:22255284-22397765	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv430885	chr14:22267491-22975700	Enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	124 gene(s)	inside rSNPs	diseases
5	nsv524527	chr14:22288841-22387318	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv430886	chr14:22290777-22975700	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
7	nsv1045059	chr14:22299148-22911214	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
8	nsv916328	chr14:22299151-22793429	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
9	nsv430887	chr14:22299981-23069853	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	173 gene(s)	inside rSNPs	diseases
10	nsv832742	chr14:22307760-22501748	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv3376001	chr14:22309888-22356663	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3510505	chr14:22315317-22363164	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3510506	chr14:22315317-22363164	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv533184	chr14:22322590-22964922	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
15	esv3374852	chr14:22323324-22376470	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv3406578	chr14:22323357-22384327	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3487255	chr14:22323369-22376353	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv9521	chr14:22323390-22376500	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	esv3487256	chr14:22323425-22376244	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv430888	chr14:22328266-22974256	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	118 gene(s)	inside rSNPs	diseases
21	nsv826884	chr14:22329745-23005270	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	147 gene(s)	inside rSNPs	diseases
22	nsv826885	chr14:22329745-23005311	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	147 gene(s)	inside rSNPs	diseases
23	nsv826887	chr14:22330625-22998976	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases
24	nsv430889	chr14:22338141-22988571	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	134 gene(s)	inside rSNPs	diseases
25	nsv522337	chr14:22340873-22356225	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
26	nsv430890	chr14:22349686-22970327	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
27	nsv1038915	chr14:22352968-22991087	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	135 gene(s)	inside rSNPs	diseases
28	nsv430892	chr14:22354103-22968854	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22344400-22355800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:22354800-22356600	Enhancers	HUVEC	blood vessel
3	chr14:22355200-22356800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:22355400-22356400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:22355400-22356600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:22355400-22356800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:22355400-22356800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr14:22355400-22356800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:22355600-22356800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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