Variant report

Variant	rs316219
Chromosome Location	chr5:96460584-96460585
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	chr5:96423649..96425360-chr5:96459657..96461691,2	K562	blood:

Variant related genes	Relation type
ENSG00000251606	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10039917	0.97[ASN][1000 genomes]
rs10043135	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10071737	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1035507	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10463198	0.85[CHB][hapmap]
rs11954059	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs12520374	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13167790	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182625	0.91[ASN][1000 genomes]
rs2287903	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2544769	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs316178	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316190	0.95[ASN][1000 genomes]
rs316201	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316202	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316203	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316204	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316205	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316207	0.84[JPT][hapmap]
rs316213	0.85[CHB][hapmap]
rs316217	0.97[ASN][1000 genomes]
rs316218	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs316223	0.84[ASN][1000 genomes]
rs316224	0.81[ASN][1000 genomes]
rs316232	0.91[ASN][1000 genomes]
rs316233	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs316234	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs444243	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6556945	0.80[ASN][1000 genomes]
rs7717829	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv830413	chr5:96450582-96509294	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 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	chr5:96448000-96465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:96449000-96463400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:96455400-96461000	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:96455400-96491800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:96456400-96478000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:96458400-96461200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:96459600-96461000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:96459600-96461200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:96459800-96461600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:96459800-96491800	Weak transcription	Primary B cells from cord blood	blood
11	chr5:96460000-96460600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:96460000-96460600	Enhancers	NHEK	skin
13	chr5:96460000-96461400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:96460000-96461600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:96460400-96460800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:96460400-96461200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr5:96460400-96465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:96460400-96465600	Weak transcription	K562	blood
19	chr5:96460400-96465800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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