Variant report

Variant	rs13172851
Chromosome Location	chr5:2184365-2184366
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	chr5:2184165-2184389	HepG2	liver:	n/a	chr5:2184245-2184256 chr5:2184240-2184256 chr5:2184244-2184255 chr5:2184240-2184255
2	MAFK	chr5:2184087-2184396	HepG2	liver:	n/a	chr5:2184245-2184256 chr5:2184240-2184256 chr5:2184244-2184255 chr5:2184240-2184255

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:2176104..2179198-chr5:2180274..2184546,3	K562	blood:

Variant related genes	Relation type
ENSG00000201026	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10053297	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10057158	0.84[EUR][1000 genomes]
rs10059122	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10078052	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10462752	0.97[ASN][1000 genomes]
rs11133933	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11741534	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11743582	0.85[EUR][1000 genomes]
rs12189415	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13156721	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157950	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13162547	0.81[ASN][1000 genomes]
rs13176661	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13180882	0.81[ASN][1000 genomes]
rs13181382	0.81[ASN][1000 genomes]
rs13181974	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13186652	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16903499	0.81[ASN][1000 genomes]
rs17584572	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34222114	0.81[ASN][1000 genomes]
rs34982780	0.81[ASN][1000 genomes]
rs4866475	0.85[ASN][1000 genomes]
rs4866625	0.81[ASN][1000 genomes]
rs4866628	0.81[ASN][1000 genomes]
rs4866649	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866652	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6555069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6555070	0.95[ASN][1000 genomes]
rs6555071	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6865374	0.96[ASN][1000 genomes]
rs6879173	0.85[ASN][1000 genomes]
rs6893234	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv880972	chr5:2146761-2190572	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880947	chr5:2146761-2251313	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv881232	chr5:2150273-2213762	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv881517	chr5:2159490-2186956	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv880859	chr5:2159490-2190572	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv880789	chr5:2159490-2213762	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv881067	chr5:2165011-2186956	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv880435	chr5:2165011-2190572	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv526334	chr5:2178140-2186956	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 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	chr5:2182600-2184400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:2183200-2185000	Enhancers	Fetal Lung	lung
3	chr5:2183200-2185800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr5:2183400-2185200	Enhancers	Fetal Stomach	stomach
5	chr5:2183600-2185200	Enhancers	Ovary	ovary
6	chr5:2183800-2184600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:2184000-2184400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr5:2184000-2185600	Enhancers	Fetal Kidney	kidney
9	chr5:2184200-2185000	Weak transcription	Spleen	Spleen

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