Variant report

Variant	rs6882628
Chromosome Location	chr5:111184434-111184435
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	POLR2A	chr5:111184048-111184721	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr5:111184136-111184671	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111178783..111180679-chr5:111183936..111185485,2	K562	blood:

Variant related genes	Relation type
HMGN1P14	TF binding region

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1003272	0.83[ASN][1000 genomes]
rs13360997	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17133824	0.84[ASN][1000 genomes]
rs17133845	0.84[ASN][1000 genomes]
rs17133847	0.84[ASN][1000 genomes]
rs17133873	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs17133879	0.83[CHB][hapmap]
rs17133882	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs34691528	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4404725	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4495228	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56243059	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56405886	0.81[ASN][1000 genomes]
rs57227445	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57342469	0.94[ASN][1000 genomes]
rs58429198	0.81[ASN][1000 genomes]
rs59874488	0.90[ASN][1000 genomes]
rs6594547	0.94[ASN][1000 genomes]
rs73787704	0.89[ASN][1000 genomes]
rs73787708	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7701160	0.90[ASN][1000 genomes]
rs7705253	0.88[ASN][1000 genomes]
rs7706739	0.90[ASN][1000 genomes]
rs7708380	0.93[ASN][1000 genomes]
rs7708790	0.84[ASN][1000 genomes]
rs7710698	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719956	0.91[ASN][1000 genomes]
rs7723663	0.93[ASN][1000 genomes]
rs7737873	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv882711	chr5:111116271-111185325	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv882712	chr5:111116271-111233084	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111182800-111187200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:111183000-111189400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:111183400-111185200	Enhancers	Fetal Lung	lung
4	chr5:111183600-111184800	Enhancers	Fetal Stomach	stomach
5	chr5:111183600-111185000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:111183600-111185200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:111183600-111185200	Enhancers	Fetal Brain Male	brain
8	chr5:111184000-111185000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:111184200-111184600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:111184400-111184800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:111184400-111189400	Weak transcription	Fetal Brain Female	brain
12	chr5:111184400-111195200	Weak transcription	Psoas Muscle	Psoas

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