Variant report

Variant	rs6868820
Chromosome Location	chr5:124750389-124750390
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10065353	0.81[EUR][1000 genomes]
rs13180857	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4351147	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4836192	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9686688	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124743800-124750400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:124744200-124751200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:124744800-124750400	Enhancers	Fetal Heart	heart
4	chr5:124746200-124750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:124746600-124750400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr5:124747800-124751200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:124748000-124751600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:124748400-124750600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:124748800-124750600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:124748800-124751800	Enhancers	Fetal Kidney	kidney
11	chr5:124749000-124750600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:124749000-124750600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:124749000-124751000	Enhancers	Fetal Brain Female	brain
14	chr5:124749000-124751600	Enhancers	Fetal Brain Male	brain
15	chr5:124749000-124753000	Enhancers	Brain Substantia Nigra	brain
16	chr5:124749000-124753400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:124749200-124750600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:124749200-124750800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:124749200-124750800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:124749400-124751200	Enhancers	Brain Germinal Matrix	brain
21	chr5:124749800-124750400	Enhancers	Brain Anterior Caudate	brain
22	chr5:124749800-124750400	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:124750000-124751000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:124750000-124751600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:124750000-124753200	Weak transcription	Fetal Lung	lung
26	chr5:124750000-124756800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:124750200-124751600	Weak transcription	Brain Angular Gyrus	brain

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