Variant report

Variant	rs331700
Chromosome Location	chr5:124826611-124826612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:124826604-124826628	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000260192	TF binding region

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

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

rs_ID	r²[population]
rs331692	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331697	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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331759	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs331760	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331761	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331762	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331763	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs331764	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs331766	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs331767	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331768	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs331769	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs331770	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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:37 , 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	chr5:124823200-124827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:124823200-124827600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:124823200-124827600	Weak transcription	NHEK	skin
11	chr5:124823200-124827800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:124823200-124827800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:124823200-124827800	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:124823400-124827000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:124823400-124827000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:124823400-124827000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:124823400-124827600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:124823400-124827600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:124823400-124827600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:124823400-124827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:124823400-124827800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:124823400-124827800	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:124823400-124827800	Weak transcription	HMEC	breast
24	chr5:124823400-124827800	Weak transcription	Osteobl	bone
25	chr5:124823400-124832000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:124823400-124860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:124823600-124827800	Weak transcription	Brain Anterior Caudate	brain
28	chr5:124823600-124828800	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:124825200-124827400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr5:124825200-124827800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:124825200-124833000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:124825400-124827600	Weak transcription	HSMMtube	muscle
33	chr5:124825600-124827000	Weak transcription	Brain Substantia Nigra	brain
34	chr5:124826200-124827800	Weak transcription	HSMM	muscle
35	chr5:124826200-124829000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:124826600-124826800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:124826600-124827200	Enhancers	Brain Germinal Matrix	brain

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