Variant report

Variant	rs6469016
Chromosome Location	chr8:106816281-106816282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:106815367..106817914-chr8:106821184..106823361,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZFPM2	hsa-miR-130a-3p	chr8:106816270-106816291

Variant related genes	Relation type
ZFPM2	miRNA target site

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10093619	0.87[AFR][1000 genomes]
rs10111735	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap]
rs11991415	1.00[EUR][1000 genomes]
rs11995760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13439490	1.00[GIH][hapmap]
rs1442320	1.00[EUR][1000 genomes]
rs16873732	1.00[EUR][1000 genomes]
rs16873752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16873753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892417	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs28407873	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28625324	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28840445	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35907960	1.00[EUR][1000 genomes]
rs35998713	1.00[EUR][1000 genomes]
rs57906084	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58053906	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58594149	1.00[EUR][1000 genomes]
rs58775053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6981522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991211	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6995222	1.00[EUR][1000 genomes]
rs7007638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7341576	1.00[EUR][1000 genomes]
rs73698307	1.00[EUR][1000 genomes]
rs73698316	1.00[EUR][1000 genomes]
rs7821554	1.00[CHD][hapmap]
rs920628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9283943	1.00[CHD][hapmap]
rs9297376	1.00[CHD][hapmap]

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	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106796600-106823600	Weak transcription	HUVEC	blood vessel
2	chr8:106805000-106817200	Weak transcription	Fetal Brain Male	brain
3	chr8:106811000-106816400	Weak transcription	Brain Substantia Nigra	brain
4	chr8:106811200-106824000	Weak transcription	Thymus	Thymus
5	chr8:106811800-106816400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:106813400-106817200	Weak transcription	Placenta	Placenta
7	chr8:106813600-106817000	Weak transcription	Lung	lung
8	chr8:106813600-106819200	Weak transcription	Psoas Muscle	Psoas
9	chr8:106814600-106816600	Weak transcription	Fetal Heart	heart
10	chr8:106814600-106817000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:106814800-106816400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:106814800-106816400	Weak transcription	Brain Angular Gyrus	brain
13	chr8:106814800-106816600	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:106815000-106817200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:106815000-106819400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:106815000-106822800	Weak transcription	Gastric	stomach
17	chr8:106815200-106817000	Weak transcription	Brain Anterior Caudate	brain
18	chr8:106815200-106817400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:106815200-106818400	Weak transcription	Fetal Lung	lung
20	chr8:106815200-106820000	Weak transcription	Aorta	Aorta
21	chr8:106815400-106817200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:106815400-106818600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:106815600-106817200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:106815600-106817200	Weak transcription	Fetal Stomach	stomach
25	chr8:106815600-106817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:106815600-106817400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:106815600-106817400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:106815600-106818400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:106815600-106818600	Weak transcription	Adipose Nuclei	Adipose
30	chr8:106815600-106819400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:106815600-106819800	Weak transcription	K562	blood
32	chr8:106815600-106821800	Weak transcription	Left Ventricle	heart
33	chr8:106815600-106833600	Weak transcription	NH-A	brain
34	chr8:106815800-106816400	Weak transcription	Right Ventricle	heart
35	chr8:106815800-106817400	Weak transcription	Ovary	ovary
36	chr8:106815800-106833800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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