Variant report

Variant	rs316211
Chromosome Location	chr5:96382193-96382194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96381504..96384488-chr5:96474189..96476207,2	K562	blood:
2	chr5:96380667..96382544-chr5:96423514..96425528,2	K562	blood:
3	chr5:96381723..96383480-chr5:96500362..96502420,2	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];0.84[TSI][hapmap];0.85[EUR][1000 genomes]
rs11740941	0.87[ASN][1000 genomes]
rs11748432	0.87[EUR][1000 genomes]
rs11750003	0.87[ASN][1000 genomes]
rs11958159	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs12109525	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12110061	0.87[EUR][1000 genomes]
rs13161540	0.99[ASN][1000 genomes]
rs13175726	0.87[ASN][1000 genomes]
rs172724	0.85[ASN][1000 genomes]
rs178396	0.95[EUR][1000 genomes]
rs186413	0.88[EUR][1000 genomes]
rs316206	0.83[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs316207	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs316208	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]
rs316209	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs316210	0.95[EUR][1000 genomes]
rs316212	0.92[ASN][1000 genomes]
rs316213	0.96[CEU][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs316220	0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs421173	0.85[ASN][1000 genomes]
rs445037	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6861399	0.95[EUR][1000 genomes]
rs7706943	0.99[ASN][1000 genomes]
rs7719380	0.93[EUR][1000 genomes]
rs7720969	0.99[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
rs316211	CAST	cis	parietal	SCAN

Chromatin state (count:27 , 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	chr5:96364800-96383000	Weak transcription	HMEC	breast
3	chr5:96372800-96382600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:96373600-96384600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:96374600-96384600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:96379600-96382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:96380200-96382200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:96380200-96382200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:96380200-96382600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:96380200-96385000	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:96380600-96382400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:96381400-96383000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:96381400-96383000	Enhancers	Placenta	Placenta
14	chr5:96381800-96382400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:96381800-96382400	Enhancers	NHDF-Ad	bronchial
16	chr5:96381800-96382800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:96381800-96383600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:96382000-96382200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:96382000-96382200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:96382000-96382200	Enhancers	Dnd41	blood
21	chr5:96382000-96382200	Enhancers	NH-A	brain
22	chr5:96382000-96382400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:96382000-96382400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:96382000-96382600	Enhancers	A549	lung
25	chr5:96382000-96383000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:96382000-96383000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:96382000-96383400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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