Variant report

Variant	rs2293711
Chromosome Location	chr14:22335283-22335284
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	CEBPB	chr14:22335185-22335344	IMR90	lung:	n/a	n/a
2	STAT3	chr14:22334704-22335292	MCF10A-Er-Src	breast:	n/a	chr14:22334933-22334944 chr14:22334932-22334946
3	FOS	chr14:22334647-22335288	MCF10A-Er-Src	breast:	n/a	chr14:22334868-22334878 chr14:22334869-22334878 chr14:22334869-22334876 chr14:22334868-22334879 chr14:22334867-22334878 chr14:22334870-22334881
4	FOS	chr14:22334648-22335352	MCF10A-Er-Src	breast:	n/a	chr14:22334868-22334878 chr14:22334869-22334878 chr14:22334869-22334876 chr14:22334868-22334879 chr14:22334867-22334878 chr14:22334870-22334881
5	STAT3	chr14:22334683-22335332	MCF10A-Er-Src	breast:	n/a	chr14:22334933-22334944 chr14:22334932-22334946
6	STAT3	chr14:22334691-22336178	MCF10A-Er-Src	breast:	n/a	chr14:22334933-22334944 chr14:22334932-22334946

Variant related genes	Relation type
TRAV13-1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17182844	0.90[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17182853	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17255063	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242534	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242535	0.89[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242536	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242537	0.81[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2280752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34396626	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34529030	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36036881	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61742979	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61745106	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73590500	0.87[ASN][1000 genomes]
rs926029	0.89[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	nsv563852	chr14:22205447-22344160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1037902	chr14:22229021-22354103	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22321400-22340800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:22323200-22337000	Weak transcription	Fetal Thymus	thymus
3	chr14:22331200-22336400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr14:22332600-22336800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:22332600-22336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:22332600-22336800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:22332800-22337000	Weak transcription	Primary T cells from cord blood	blood
8	chr14:22334000-22336800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:22334000-22336800	Enhancers	HMEC	breast
10	chr14:22334000-22337200	Enhancers	HUVEC	blood vessel
11	chr14:22334200-22337000	Weak transcription	Thymus	Thymus
12	chr14:22334600-22336600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:22334600-22336800	Enhancers	NHEK	skin
14	chr14:22334800-22339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:22335000-22336000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:22335200-22336200	Weak transcription	NH-A	brain

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