Variant report

Variant	rs316178
Chromosome Location	chr5:96472197-96472198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10039917	0.98[ASN][1000 genomes]
rs10043135	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10071737	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035507	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10463198	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11954059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12520374	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13167790	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182625	0.92[ASN][1000 genomes]
rs2287903	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2544769	0.96[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2544776	0.81[ASN][1000 genomes]
rs316190	0.96[ASN][1000 genomes]
rs316201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316202	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316203	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316204	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316205	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316209	0.84[JPT][hapmap]
rs316213	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs316217	0.98[ASN][1000 genomes]
rs316218	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316219	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316223	0.81[ASN][1000 genomes]
rs316224	0.82[ASN][1000 genomes]
rs316232	0.92[ASN][1000 genomes]
rs316233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs316234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs389536	0.81[ASN][1000 genomes]
rs444243	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6556945	0.81[ASN][1000 genomes]
rs7717829	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96455400-96491800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:96456400-96478000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96459800-96491800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:96467200-96474000	Weak transcription	Brain Anterior Caudate	brain
5	chr5:96470000-96472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:96470000-96475600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:96470200-96472600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:96470200-96473000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:96470400-96474200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:96471000-96473000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:96471200-96475800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:96471200-96476200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:96471800-96472400	Enhancers	Brain Germinal Matrix	brain
14	chr5:96471800-96472400	Enhancers	Fetal Muscle Leg	muscle
15	chr5:96471800-96475000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:96472000-96472400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:96472000-96473800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:96472000-96474200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:96472000-96475200	Weak transcription	Fetal Brain Female	brain
20	chr5:96472000-96476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:96472000-96476200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:96472000-96476800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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