Variant report

Variant	rs9498418
Chromosome Location	chr6:101331838-101331839
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101162432..101165009-chr6:101330194..101333113,2	K562	blood:
2	chr6:101328677..101332841-chr6:101334376..101338552,5	K562	blood:
3	chr6:101327650..101330005-chr6:101331234..101332758,2	K562	blood:

Variant related genes	Relation type
ENSG00000270987	Chromatin interaction
ENSG00000112249	Chromatin interaction
ENSG00000260000	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12664068	0.82[EUR][1000 genomes]
rs1854483	0.85[EUR][1000 genomes]
rs3734351	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4098482	0.85[EUR][1000 genomes]
rs57795969	0.82[EUR][1000 genomes]
rs61289570	0.85[EUR][1000 genomes]
rs6930051	0.85[EUR][1000 genomes]
rs705588	0.96[ASN][1000 genomes]
rs9377246	0.82[EUR][1000 genomes]
rs9386259	0.82[AFR][1000 genomes]
rs9386260	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9390697	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9399696	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9404055	0.97[EUR][1000 genomes]
rs9404058	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9498409	1.00[EUR][1000 genomes]
rs9498411	0.85[AFR][1000 genomes]
rs9498414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9498439	0.85[EUR][1000 genomes]
rs9791284	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv2763587	chr6:101277874-101510491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9498418	GRIK2	cis	Artery Tibial	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101329800-101333000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:101329800-101335000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:101329800-101340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:101330000-101332600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:101330200-101333000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:101330200-101340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:101330400-101339000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:101330600-101333800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:101330600-101334000	Weak transcription	NH-A	brain
10	chr6:101330600-101335000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:101330800-101339000	Weak transcription	K562	blood
12	chr6:101331400-101333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:101331400-101333200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:101331600-101332800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:101331600-101333400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:101331600-101333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:101331600-101339000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:101331600-101340000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:101331600-101340000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:101331800-101333400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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