Variant report

Variant	rs57924936
Chromosome Location	chr5:120114302-120114303
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	FOSL2	chr5:120114104-120115087	SK-N-SH	brain:	n/a	chr5:120114940-120114949 chr5:120114739-120114748
2	EP300	chr5:120114205-120114616	SK-N-SH_RA	brain:	n/a	n/a
3	FOS	chr5:120114184-120114464	MCF10A-Er-Src	breast:	n/a	n/a
4	YY1	chr5:120114196-120114503	SK-N-SH_RA	brain:	n/a	n/a
5	POLR2A	chr5:120114230-120114986	SK-N-SH	brain:	n/a	n/a
6	MAFK	chr5:120114296-120115087	IMR90	lung:	n/a	chr5:120114453-120114462 chr5:120114453-120114463
7	YY1	chr5:120114213-120115052	SK-N-SH	brain:	n/a	n/a
8	JUND	chr5:120114155-120115054	SK-N-SH	brain:	n/a	chr5:120114940-120114949 chr5:120114739-120114748
9	GATA3	chr5:120114052-120115031	SK-N-SH	brain:	n/a	n/a
10	FOS	chr5:120114205-120114426	MCF10A-Er-Src	breast:	n/a	n/a
11	NFIC	chr5:120114218-120115054	SK-N-SH	brain:	n/a	chr5:120114428-120114456
12	PBX3	chr5:120114214-120115013	SK-N-SH	brain:	n/a	chr5:120114707-120114718
13	EP300	chr5:120114228-120114625	SK-N-SH_RA	brain:	n/a	n/a
14	YY1	chr5:120114169-120114527	SK-N-SH_RA	brain:	n/a	n/a
15	YY1	chr5:120114161-120114923	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr5:120114144-120115188	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr5:120114116-120115036	SK-N-SH	brain:	n/a	n/a
18	EP300	chr5:120114140-120115197	SK-N-SH	brain:	n/a	chr5:120114203-120114212 chr5:120114630-120114644 chr5:120114938-120114947 chr5:120114202-120114216 chr5:120114937-120114951

Variant related genes	Relation type
ENSG00000248927	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10037145	1.00[ASN][1000 genomes]
rs10037193	1.00[ASN][1000 genomes]
rs10037630	0.97[ASN][1000 genomes]
rs10043603	1.00[ASN][1000 genomes]
rs10053506	0.97[ASN][1000 genomes]
rs10065157	1.00[ASN][1000 genomes]
rs10478482	0.97[ASN][1000 genomes]
rs1080833	0.97[ASN][1000 genomes]
rs13354858	0.97[ASN][1000 genomes]
rs13357432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13360138	0.97[ASN][1000 genomes]
rs13361899	1.00[ASN][1000 genomes]
rs17147001	1.00[ASN][1000 genomes]
rs28525218	0.97[ASN][1000 genomes]
rs28698476	0.84[ASN][1000 genomes]
rs56700945	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5870923	1.00[ASN][1000 genomes]
rs59290295	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6879487	0.92[ASN][1000 genomes]
rs6883873	0.97[ASN][1000 genomes]
rs73253772	1.00[ASN][1000 genomes]
rs73267974	0.95[ASN][1000 genomes]
rs7701417	0.97[ASN][1000 genomes]
rs7701686	0.97[ASN][1000 genomes]
rs7701827	0.97[ASN][1000 genomes]
rs7705746	0.97[ASN][1000 genomes]
rs7705890	0.97[ASN][1000 genomes]
rs7728842	0.97[ASN][1000 genomes]
rs7733148	0.97[ASN][1000 genomes]
rs9327162	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830465	chr5:119973839-120151853	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1029773	chr5:120018166-120213999	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1016516	chr5:120023417-120132790	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1022693	chr5:120026332-120132790	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1031403	chr5:120044993-120222128	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1033992	chr5:120045247-120232155	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1034523	chr5:120046649-120213999	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv537886	chr5:120046649-120213999	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1032430	chr5:120046652-120222128	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv599604	chr5:120046798-120223491	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv882788	chr5:120047147-120162357	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1025535	chr5:120050070-120222128	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv3369974	chr5:120051746-120319085	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv882789	chr5:120056258-120190213	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1017521	chr5:120061733-120175806	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1026309	chr5:120063385-120147180	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1016322	chr5:120063385-120181846	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv882790	chr5:120066820-120162357	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv830466	chr5:120086428-120259016	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	nsv599605	chr5:120096907-120151772	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv882791	chr5:120100225-120293328	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv1031293	chr5:120100625-120157821	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv524748	chr5:120104848-120219340	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120105800-120114400	Weak transcription	NHLF	lung
2	chr5:120113600-120116000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:120113800-120114400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:120113800-120115600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:120113800-120115600	Flanking Active TSS	Osteobl	bone
6	chr5:120114000-120114400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:120114000-120115600	Flanking Active TSS	NH-A	brain
8	chr5:120114000-120115800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:120114200-120114400	Flanking Active TSS	NHDF-Ad	bronchial
10	chr5:120114200-120114600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:120114200-120114600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:120114200-120114800	Active TSS	HSMM	muscle
13	chr5:120114200-120115200	Enhancers	Fetal Brain Male	brain
14	chr5:120114200-120115200	Active TSS	HSMMtube	muscle
15	chr5:120114200-120115400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:120114200-120115400	Active TSS	Brain Anterior Caudate	brain
17	chr5:120114200-120116000	Enhancers	Cortex derived primary cultured neurospheres	brain

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