Variant report

Variant	rs10947589
Chromosome Location	chr6:36122027-36122028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000156711	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000221743	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10447375	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10447396	1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1059227	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12193895	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199702	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201042	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12201072	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525283	1.00[JPT][hapmap]
rs17715809	1.00[JPT][hapmap]
rs2007683	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2859135	0.86[AMR][1000 genomes]
rs2859136	0.85[AMR][1000 genomes]
rs2859137	0.86[AMR][1000 genomes]
rs2859141	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6940723	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10947589	MAPK13	cis	Skin Sun Exposed Lower leg	GTEx
rs10947589	MAPK13	cis	Esophagus Mucosa	GTEx
rs10947589	MAPK13	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36101200-36129400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:36110000-36145000	Weak transcription	Primary T cells from cord blood	blood
3	chr6:36110200-36137200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:36118000-36127800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:36118000-36129000	Weak transcription	HepG2	liver
6	chr6:36118600-36145800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:36120200-36123000	Enhancers	Placenta	Placenta
8	chr6:36121200-36122200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:36121600-36122600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:36121800-36122800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:36122000-36122800	Enhancers	NHEK	skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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