Variant report

Variant	rs1442323
Chromosome Location	chr8:106790389-106790390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1470220	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16873771	1.00[AMR][1000 genomes]
rs57293369	1.00[AMR][1000 genomes]
rs7001540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293419	1.00[AMR][1000 genomes]
rs73293443	1.00[AMR][1000 genomes]
rs73293445	1.00[AMR][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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831418	chr8:106648456-106833333	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv891260	chr8:106737459-106808078	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:106782200-106800800	Weak transcription	K562	blood
2	chr8:106782800-106809000	Weak transcription	NH-A	brain
3	chr8:106783200-106813200	Weak transcription	Psoas Muscle	Psoas
4	chr8:106783200-106813200	Weak transcription	Right Ventricle	heart
5	chr8:106783400-106809000	Weak transcription	Aorta	Aorta
6	chr8:106785200-106791800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:106787600-106790800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:106787600-106809000	Weak transcription	Ovary	ovary
9	chr8:106788000-106791400	Weak transcription	Fetal Brain Female	brain
10	chr8:106788000-106792600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:106788200-106790400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:106788200-106790800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:106788200-106791200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:106788200-106791400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:106788200-106791800	Weak transcription	Fetal Lung	lung
16	chr8:106788600-106791400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:106789000-106790800	Enhancers	Brain Germinal Matrix	brain
18	chr8:106789000-106791800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:106789200-106791400	Enhancers	Fetal Heart	heart
20	chr8:106789400-106791400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:106789400-106791600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:106789400-106793200	Enhancers	HUVEC	blood vessel
23	chr8:106789600-106791800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:106790000-106790400	Weak transcription	Fetal Brain Male	brain
25	chr8:106790000-106791400	Weak transcription	Stomach Mucosa	stomach
26	chr8:106790000-106791600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:106790200-106791600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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