Variant report

Variant	rs2852504
Chromosome Location	chr6:101842891-101842892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr6:101840627-101843576	SK-N-SH	brain:	n/a	n/a
2	SMC3	chr6:101842757-101843792	SK-N-SH	brain:	n/a	chr6:101843410-101843424

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101839704..101841744-chr6:101842658..101845506,3	K562	blood:

Variant related genes	Relation type
GRIK2	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1160258	0.83[ASN][1000 genomes]
rs17658674	0.83[ASN][1000 genomes]
rs1948050	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518173	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518319	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579929	0.97[EUR][1000 genomes]
rs2629982	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2787573	0.97[EUR][1000 genomes]
rs283186	0.86[ASN][1000 genomes]
rs2852497	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2852500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852502	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852503	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852505	0.97[EUR][1000 genomes]
rs2852506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852507	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852509	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852510	0.97[EUR][1000 genomes]
rs2852511	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852512	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852513	0.97[EUR][1000 genomes]
rs2852514	0.97[EUR][1000 genomes]
rs471631	1.00[ASN][1000 genomes]
rs473846	1.00[ASN][1000 genomes]
rs480221	1.00[ASN][1000 genomes]
rs484819	1.00[ASN][1000 genomes]
rs489458	1.00[ASN][1000 genomes]
rs493123	1.00[ASN][1000 genomes]
rs496596	0.84[EUR][1000 genomes]
rs500305	1.00[ASN][1000 genomes]
rs503387	0.90[EUR][1000 genomes]
rs504406	1.00[ASN][1000 genomes]
rs504408	1.00[ASN][1000 genomes]
rs528879	1.00[ASN][1000 genomes]
rs542820	1.00[ASN][1000 genomes]
rs542923	1.00[ASN][1000 genomes]
rs546327	1.00[ASN][1000 genomes]
rs566507	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs570556	0.84[EUR][1000 genomes]
rs577503	1.00[ASN][1000 genomes]
rs579069	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584655	1.00[ASN][1000 genomes]
rs594870	1.00[ASN][1000 genomes]
rs600842	1.00[ASN][1000 genomes]
rs608847	1.00[ASN][1000 genomes]
rs632956	0.95[EUR][1000 genomes]
rs636796	1.00[ASN][1000 genomes]
rs638255	1.00[ASN][1000 genomes]
rs661064	0.90[EUR][1000 genomes]
rs662360	0.89[EUR][1000 genomes]
rs662916	1.00[ASN][1000 genomes]
rs668267	1.00[ASN][1000 genomes]
rs675259	0.92[EUR][1000 genomes]
rs683149	1.00[ASN][1000 genomes]
rs684160	1.00[ASN][1000 genomes]
rs685002	1.00[ASN][1000 genomes]
rs687497	0.89[EUR][1000 genomes]
rs697440	1.00[ASN][1000 genomes]
rs697441	1.00[ASN][1000 genomes]
rs808952	1.00[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	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
2	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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101840000-101843600	Active TSS	Right Atrium	heart
2	chr6:101840400-101843200	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr6:101841400-101843000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:101841400-101843200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:101841400-101843200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:101841400-101843200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr6:101842000-101843800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:101842000-101845000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:101842200-101843800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:101842200-101846600	Weak transcription	Pancreas	Pancrea
11	chr6:101842200-101849600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:101842400-101844200	Bivalent/Poised TSS	Fetal Brain Male	brain
13	chr6:101842400-101849600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:101842600-101843200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
15	chr6:101842600-101843200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr6:101842600-101843200	Active TSS	Brain Angular Gyrus	brain
17	chr6:101842600-101843400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:101842800-101843000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:101842800-101843600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:101842800-101845400	Active TSS	Fetal Brain Female	brain
21	chr6:101842800-101846800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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