Variant report

Variant	rs2455305
Chromosome Location	chr5:40929815-40929816
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	MAFK	chr5:40929667-40929944	HepG2	liver:	n/a	chr5:40929822-40929833

Variant related genes	Relation type
C7	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10512751	0.93[CEU][hapmap]
rs11744119	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1376178	0.88[YRI][hapmap]
rs16870378	0.85[CEU][hapmap]
rs178929	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812960	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827364	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1910015	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2122569	0.88[YRI][hapmap]
rs2122570	0.87[EUR][1000 genomes]
rs2271709	1.00[CEU][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2459465	0.88[YRI][hapmap]
rs2675979	0.93[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2675981	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324056	1.00[CEU][hapmap]
rs324062	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324064	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324070	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs324071	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs324073	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3792637	1.00[CEU][hapmap]
rs4957358	0.89[JPT][hapmap]
rs59027389	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6888489	0.85[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap]
rs6890698	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs7715597	0.82[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40918000-40930800	Weak transcription	Fetal Heart	heart
2	chr5:40925800-40930600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:40926600-40936600	Weak transcription	Left Ventricle	heart
4	chr5:40928000-40931200	Strong transcription	Fetal Lung	lung
5	chr5:40929400-40933000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:40929400-40933000	Weak transcription	Ovary	ovary
7	chr5:40929400-40933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:40929600-40933000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:40929800-40932600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:40929800-40932600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:40929800-40932800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:40929800-40933000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:40929800-40933000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:40929800-40933200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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