Variant report

Variant	rs316190
Chromosome Location	chr5:96436068-96436069
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:34)

rs_ID	r²[population]
rs10039917	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10043135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071737	0.96[ASN][1000 genomes]
rs1035507	0.98[ASN][1000 genomes]
rs10463198	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11954059	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11958159	0.85[CEU][hapmap]
rs12520374	0.94[ASN][1000 genomes]
rs13167790	0.95[ASN][1000 genomes]
rs182625	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2287903	0.98[ASN][1000 genomes]
rs2544769	0.95[CHB][hapmap];0.80[JPT][hapmap];0.86[ASN][1000 genomes]
rs2544776	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs316178	0.96[ASN][1000 genomes]
rs316201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs316202	0.94[ASN][1000 genomes]
rs316203	0.95[ASN][1000 genomes]
rs316204	0.95[ASN][1000 genomes]
rs316205	0.95[ASN][1000 genomes]
rs316209	0.84[JPT][hapmap]
rs316213	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs316217	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316218	0.97[ASN][1000 genomes]
rs316219	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs316223	0.84[ASN][1000 genomes]
rs316224	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs316232	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316233	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs389536	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs392723	0.81[ASN][1000 genomes]
rs444243	0.97[ASN][1000 genomes]
rs6556945	0.84[ASN][1000 genomes]
rs7717829	0.80[AMR][1000 genomes];0.91[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	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96425200-96437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:96426400-96437200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:96428400-96440000	Weak transcription	K562	blood
4	chr5:96430600-96438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:96430800-96438200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:96432400-96437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:96432400-96437000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:96432400-96437000	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:96432600-96439200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:96432800-96436200	Weak transcription	Brain Substantia Nigra	brain
11	chr5:96432800-96436400	Weak transcription	Fetal Stomach	stomach
12	chr5:96432800-96437000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:96432800-96437600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:96432800-96439000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:96432800-96445600	Weak transcription	Primary B cells from cord blood	blood
16	chr5:96433000-96437200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:96433600-96437000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:96433600-96437400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:96433800-96437000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:96433800-96437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:96434000-96437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:96434000-96437000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:96434200-96438600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:96434400-96437000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:96434600-96439200	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:96435000-96436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:96435000-96436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:96435000-96436200	Weak transcription	Brain Germinal Matrix	brain
29	chr5:96435000-96436400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:96435000-96436400	Weak transcription	Fetal Lung	lung
31	chr5:96435000-96436800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:96435000-96437000	Enhancers	Brain Hippocampus Middle	brain
33	chr5:96435000-96437600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:96435000-96447400	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:96435200-96436400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:96435600-96436400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:96435800-96437600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:96435800-96437600	Enhancers	Brain Anterior Caudate	brain

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