Variant report

Variant	rs316217
Chromosome Location	chr5:96451980-96451981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10039917	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10043135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10071737	0.98[ASN][1000 genomes]
rs1035507	1.00[ASN][1000 genomes]
rs10463198	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11954059	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11958159	0.85[CEU][hapmap]
rs12520374	0.95[ASN][1000 genomes]
rs13167790	0.97[ASN][1000 genomes]
rs182625	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2287903	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2544769	0.95[CHB][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs2544776	0.83[ASN][1000 genomes]
rs316178	0.98[ASN][1000 genomes]
rs316179	0.86[AMR][1000 genomes]
rs316182	0.87[AMR][1000 genomes]
rs316190	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316201	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs316202	0.96[ASN][1000 genomes]
rs316203	0.97[ASN][1000 genomes]
rs316204	0.97[ASN][1000 genomes]
rs316205	0.97[ASN][1000 genomes]
rs316207	0.84[JPT][hapmap]
rs316209	0.84[JPT][hapmap]
rs316213	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs316218	0.98[ASN][1000 genomes]
rs316219	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs316223	0.84[ASN][1000 genomes]
rs316224	0.84[ASN][1000 genomes]
rs316232	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316233	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs316234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs389536	0.83[ASN][1000 genomes]
rs444243	0.98[ASN][1000 genomes]
rs6556945	0.83[ASN][1000 genomes]
rs7704410	0.90[AMR][1000 genomes]
rs7717829	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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:20 , 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	chr5:96447800-96453200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:96448000-96459600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:96448000-96460000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:96448000-96465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:96448800-96452400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:96448800-96453400	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:96449000-96454800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:96449000-96463400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:96450200-96452800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:96451000-96452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:96451400-96452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:96451600-96452000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:96451600-96452200	Enhancers	Brain Germinal Matrix	brain
19	chr5:96451600-96453200	Enhancers	Fetal Heart	heart
20	chr5:96451600-96454400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links