Variant report

Variant	rs316210
Chromosome Location	chr5:96381640-96381641
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96381504..96384488-chr5:96474189..96476207,2	K562	blood:
2	chr5:96380667..96382544-chr5:96423514..96425528,2	K562	blood:

Variant related genes	Relation type
ENSG00000251606	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10463198	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11748432	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12109525	0.85[EUR][1000 genomes]
rs12110061	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13165925	1.00[ASN][1000 genomes]
rs178396	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs186413	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs316206	0.95[EUR][1000 genomes]
rs316207	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316208	0.94[EUR][1000 genomes]
rs316209	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316211	0.95[EUR][1000 genomes]
rs316213	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs445037	0.84[EUR][1000 genomes]
rs6861399	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7719380	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96364600-96383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:96364800-96382000	Weak transcription	NH-A	brain
3	chr5:96364800-96383000	Weak transcription	HMEC	breast
4	chr5:96365800-96382000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:96369800-96381800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:96372800-96382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:96373200-96382000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:96373600-96384600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:96374000-96382000	Weak transcription	Dnd41	blood
10	chr5:96374600-96384600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:96375000-96382000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:96379600-96382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:96379800-96381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:96380200-96382000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:96380200-96382200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:96380200-96382200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:96380200-96382600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:96380200-96385000	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:96380600-96382400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:96381200-96382000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:96381400-96383000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:96381400-96383000	Enhancers	Placenta	Placenta
23	chr5:96381600-96381800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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