Variant report

Variant	rs316216
Chromosome Location	chr5:96449437-96449438
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	chr5:96449374..96451547-chr5:96453007..96458409,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10043135	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs11739416	0.81[ASN][1000 genomes]
rs11739448	0.81[ASN][1000 genomes]
rs11749186	0.81[ASN][1000 genomes]
rs11958159	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13154242	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13167931	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13173677	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs172723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186414	0.81[ASN][1000 genomes]
rs221970	0.85[ASN][1000 genomes]
rs316179	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316182	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316187	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316188	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316189	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs316202	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs316208	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs316211	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs316220	0.88[CHD][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.87[ASN][1000 genomes]
rs316221	0.88[ASN][1000 genomes]
rs316222	0.84[ASN][1000 genomes]
rs316225	0.81[ASN][1000 genomes]
rs316226	0.83[ASN][1000 genomes]
rs316227	0.83[ASN][1000 genomes]
rs316228	0.83[ASN][1000 genomes]
rs316233	0.80[CEU][hapmap];0.87[TSI][hapmap]
rs316234	0.85[CEU][hapmap];0.84[TSI][hapmap]
rs7704410	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv830412	chr5:96427305-96606619	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96438600-96454800	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:96442400-96460200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:96444200-96454000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:96446000-96453800	Weak transcription	Primary B cells from cord blood	blood
5	chr5:96447600-96454000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:96447800-96451000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:96447800-96451600	Weak transcription	Brain Germinal Matrix	brain
8	chr5:96447800-96453200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:96448000-96450200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:96448000-96459600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:96448000-96460000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:96448000-96465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:96448200-96450200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:96448800-96452400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:96448800-96453400	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:96449000-96450200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:96449000-96451600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:96449000-96454800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:96449000-96463400	Weak transcription	Brain Anterior Caudate	brain

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