Variant report

Variant	rs315261
Chromosome Location	chr5:42888094-42888095
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	RCOR1	chr5:42887851-42888202	K562	blood:	n/a	n/a
2	CEBPB	chr5:42887357-42888224	Hela-S3	cervix:	n/a	chr5:42887816-42887827

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42881977..42885731-chr5:42887904..42891094,4	K562	blood:

Variant related genes	Relation type
SEPP1	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10472376	1.00[ASN][1000 genomes]
rs12521684	1.00[ASN][1000 genomes]
rs13361827	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160331	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160332	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872962	1.00[ASN][1000 genomes]
rs16874465	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17300495	1.00[ASN][1000 genomes]
rs2444853	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548363	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548367	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2548368	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2603635	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924818	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309920	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309928	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309933	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309937	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309943	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309944	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs309945	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315247	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315248	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315259	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315267	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs315268	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs315269	0.98[EUR][1000 genomes]
rs375476	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377822	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs378886	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs387180	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388377	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399923	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401102	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401583	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404899	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408180	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs410225	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424862	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs426335	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427799	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs435255	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs435445	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55736023	1.00[ASN][1000 genomes]
rs55962848	1.00[ASN][1000 genomes]
rs55981030	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56027646	1.00[ASN][1000 genomes]
rs56035132	1.00[ASN][1000 genomes]
rs56092116	1.00[ASN][1000 genomes]
rs56289342	1.00[ASN][1000 genomes]
rs56346893	1.00[ASN][1000 genomes]
rs57643758	1.00[ASN][1000 genomes]
rs57792463	1.00[ASN][1000 genomes]
rs58933160	1.00[ASN][1000 genomes]
rs60087060	1.00[ASN][1000 genomes]
rs60244620	1.00[ASN][1000 genomes]
rs60303876	1.00[ASN][1000 genomes]
rs6887414	1.00[ASN][1000 genomes]
rs72746737	1.00[ASN][1000 genomes]
rs72746739	1.00[ASN][1000 genomes]
rs72746746	1.00[ASN][1000 genomes]
rs72746753	1.00[ASN][1000 genomes]
rs72746762	1.00[ASN][1000 genomes]
rs72746766	1.00[ASN][1000 genomes]
rs72746768	1.00[ASN][1000 genomes]
rs72746770	1.00[ASN][1000 genomes]
rs72757078	1.00[ASN][1000 genomes]
rs72757080	1.00[ASN][1000 genomes]
rs72759052	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759059	0.94[EUR][1000 genomes]
rs72759060	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759061	0.94[EUR][1000 genomes]
rs72759062	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759066	0.94[EUR][1000 genomes]
rs72759067	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759071	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759072	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759073	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759075	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759077	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759084	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759085	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759086	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759087	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759093	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72759095	1.00[ASN][1000 genomes]
rs72759097	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762696	1.00[ASN][1000 genomes]
rs72762697	1.00[ASN][1000 genomes]
rs72762698	1.00[ASN][1000 genomes]
rs72762701	1.00[ASN][1000 genomes]
rs72764507	1.00[ASN][1000 genomes]
rs72764510	1.00[ASN][1000 genomes]
rs72764515	1.00[ASN][1000 genomes]
rs72764524	1.00[ASN][1000 genomes]
rs73754528	1.00[ASN][1000 genomes]
rs7702086	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
2	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
3	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
8	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
9	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
10	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42878800-42890000	Enhancers	HepG2	liver
2	chr5:42885800-42889600	Enhancers	Fetal Intestine Large	intestine
3	chr5:42886000-42889200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:42886000-42890000	Enhancers	Fetal Intestine Small	intestine
5	chr5:42886800-42888200	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:42887400-42888200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42887400-42888400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:42887400-42890000	Enhancers	Liver	Liver
9	chr5:42887600-42889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:42887600-42894400	Weak transcription	K562	blood
11	chr5:42887800-42888400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:42888000-42888200	Bivalent Enhancer	Hela-S3	cervix
13	chr5:42888000-42888400	Flanking Active TSS	Fetal Lung	lung
14	chr5:42888000-42889000	Weak transcription	Brain Angular Gyrus	brain
15	chr5:42888000-42889600	Enhancers	Adipose Nuclei	Adipose

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