Variant report

Variant	rs331697
Chromosome Location	chr5:124827317-124827318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs331692	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331702	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331759	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs331760	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331761	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331762	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331763	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs331764	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs331766	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs331767	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331768	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs331769	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs331770	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882824	chr5:124789500-124875058	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124821800-124828800	Weak transcription	Aorta	Aorta
2	chr5:124822600-124827400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:124822600-124827600	Weak transcription	Fetal Lung	lung
4	chr5:124822600-124827800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:124822600-124828800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:124822800-124833800	Weak transcription	Fetal Kidney	kidney
7	chr5:124823000-124827400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:124823200-124827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:124823200-124827600	Weak transcription	NHEK	skin
10	chr5:124823200-124827800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:124823200-124827800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:124823200-124827800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:124823400-124827600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:124823400-124827600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:124823400-124827600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:124823400-124827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:124823400-124827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:124823400-124827800	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:124823400-124827800	Weak transcription	HMEC	breast
20	chr5:124823400-124827800	Weak transcription	Osteobl	bone
21	chr5:124823400-124832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:124823400-124860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:124823600-124827800	Weak transcription	Brain Anterior Caudate	brain
24	chr5:124823600-124828800	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:124825200-124827400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:124825200-124827800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:124825200-124833000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:124825400-124827600	Weak transcription	HSMMtube	muscle
29	chr5:124826200-124827800	Weak transcription	HSMM	muscle
30	chr5:124826200-124829000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:124827000-124827800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:124827000-124828200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:124827000-124828200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:124827200-124827600	Weak transcription	Brain Substantia Nigra	brain
35	chr5:124827200-124828400	Enhancers	HUES64 Cell Line	embryonic stem cell

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