Variant report

Variant	rs13157270
Chromosome Location	chr5:90012379-90012380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90011449..90014347-chr5:90016654..90019207,2	K562	blood:
2	chr5:90007247..90014347-chr5:90014590..90019207,8	K562	blood:
3	chr5:90010535..90012763-chr5:90098417..90101148,2	K562	blood:

Variant related genes	Relation type
ENSG00000164199	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10056775	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10514330	1.00[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs11738461	0.81[EUR][1000 genomes]
rs11739825	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11739958	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11742844	1.00[CEU][hapmap]
rs11745908	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11748911	1.00[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11749693	0.85[EUR][1000 genomes]
rs13159048	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13164404	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13171056	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13171303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13174505	0.97[EUR][1000 genomes]
rs13182944	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13183331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13186124	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13190272	1.00[CEU][hapmap]
rs17541517	1.00[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs17541704	1.00[CEU][hapmap];0.85[GIH][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs17541912	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17542086	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs17542921	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17543150	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17552645	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17614588	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17621038	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17621160	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17621985	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17622555	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34301936	0.81[EUR][1000 genomes]
rs34490215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34774423	0.88[EUR][1000 genomes]
rs35312877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35667071	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35680172	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36045161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56816222	0.89[EUR][1000 genomes]
rs66683260	0.85[EUR][1000 genomes]
rs67956713	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6866075	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71637308	0.81[EUR][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	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv934323	chr5:89968158-90111853	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv882368	chr5:89990324-90012379	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1031718	chr5:89999033-90099868	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 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	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:89991800-90014000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:89995000-90025800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:89997800-90017600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:89998800-90018000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:90002200-90022000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:90002200-90023200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:90008200-90021600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:90008200-90022000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90010600-90035200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:90011000-90013000	Strong transcription	K562	blood
12	chr5:90011200-90027200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:90011800-90013200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:90011800-90017800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90012200-90012800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr5:90012200-90013000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:90012200-90013200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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