Variant report

Variant	rs316208
Chromosome Location	chr5:96380973-96380974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000251606	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10463198	0.96[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs11740941	0.88[ASN][1000 genomes]
rs11748432	0.86[EUR][1000 genomes]
rs11750003	0.88[ASN][1000 genomes]
rs11958159	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs12109525	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12110061	0.86[EUR][1000 genomes]
rs13161540	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13175726	0.88[ASN][1000 genomes]
rs172724	0.86[ASN][1000 genomes]
rs178396	0.95[EUR][1000 genomes]
rs186413	0.87[EUR][1000 genomes]
rs316206	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316207	1.00[CEU][hapmap];0.80[CHB][hapmap];0.82[CHD][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs316209	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[CHD][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs316210	0.94[EUR][1000 genomes]
rs316211	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316212	0.93[ASN][1000 genomes]
rs316213	0.96[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs316220	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs421173	0.86[ASN][1000 genomes]
rs445037	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6861399	0.94[EUR][1000 genomes]
rs7706943	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7719380	0.92[EUR][1000 genomes]
rs7720969	1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs316208	CAST	cis	parietal	SCAN

Chromatin state (count:26 , 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	chr5:96372800-96381400	Weak transcription	Placenta	Placenta
7	chr5:96372800-96382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:96373200-96382000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:96373600-96384600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:96374000-96382000	Weak transcription	Dnd41	blood
11	chr5:96374600-96384600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:96375000-96382000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:96379000-96381200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:96379200-96381400	Enhancers	Fetal Kidney	kidney
15	chr5:96379600-96381200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:96379600-96382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:96379800-96381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:96380200-96382000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:96380200-96382200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:96380200-96382200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:96380200-96382600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:96380200-96385000	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:96380400-96381000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:96380400-96381400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:96380400-96381600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:96380600-96382400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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