Variant report

Variant	rs1022387
Chromosome Location	chr6:114462618-114462619
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114457639..114460635-chr6:114462244..114465623,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11153467	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13199095	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401771	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1889556	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1964777	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964778	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945991	1.00[YRI][hapmap]
rs884817	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320480	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9374439	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9387192	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481425	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481432	0.83[YRI][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	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv1034897	chr6:114454186-114555679	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114430800-114477800	Weak transcription	Brain Anterior Caudate	brain
2	chr6:114444000-114465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:114444000-114466000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:114447400-114466000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:114454400-114466000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:114455400-114466800	Weak transcription	Pancreas	Pancrea
7	chr6:114456400-114466200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:114457000-114463200	Weak transcription	Brain Substantia Nigra	brain
9	chr6:114457000-114466800	Weak transcription	Brain Angular Gyrus	brain
10	chr6:114458200-114465400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:114460600-114464000	Weak transcription	HepG2	liver
12	chr6:114462000-114463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:114462000-114465800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:114462000-114466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:114462000-114466000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:114462000-114466200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:114462000-114466600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:114462200-114463000	Enhancers	Fetal Heart	heart
19	chr6:114462400-114465400	Weak transcription	Hela-S3	cervix
20	chr6:114462400-114465800	Weak transcription	HSMMtube	muscle
21	chr6:114462600-114462800	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:114462600-114462800	Enhancers	HSMM	muscle

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