Variant report

Variant	rs2163369
Chromosome Location	chr15:57164889-57164890
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	chr15:57164380..57166983-chr15:57169349..57171500,3	K562	blood:
2	chr15:57163658..57165321-chr15:57171558..57174529,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1012321	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10450961	0.90[EUR][1000 genomes]
rs10518871	0.81[CEU][hapmap]
rs10851612	0.88[CEU][hapmap];0.84[TSI][hapmap]
rs1115019	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs11855646	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11858368	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12324092	0.97[GIH][hapmap];0.83[TSI][hapmap]
rs13379960	0.93[EUR][1000 genomes]
rs1430819	0.92[EUR][1000 genomes]
rs1441236	0.94[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs1647392	0.94[CEU][hapmap];0.89[CHB][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs1657922	0.88[CEU][hapmap];0.85[TSI][hapmap]
rs1657934	0.88[CEU][hapmap];0.89[CHB][hapmap];0.89[TSI][hapmap]
rs1660961	0.89[EUR][1000 genomes]
rs1967352	0.86[EUR][1000 genomes]
rs1967353	0.86[EUR][1000 genomes]
rs2128171	0.81[CEU][hapmap]
rs2161933	0.93[EUR][1000 genomes]
rs2278613	0.94[CEU][hapmap]
rs2414487	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28371400	0.92[EUR][1000 genomes]
rs28468978	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28568712	0.93[EUR][1000 genomes]
rs28609621	0.93[EUR][1000 genomes]
rs28736360	0.93[EUR][1000 genomes]
rs28874022	0.95[EUR][1000 genomes]
rs4313751	0.92[EUR][1000 genomes]
rs56965085	0.86[EUR][1000 genomes]
rs6493882	0.81[CEU][hapmap]
rs6493886	0.88[CEU][hapmap]
rs6493893	0.94[CEU][hapmap];0.89[CHB][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs6493894	0.94[EUR][1000 genomes]
rs67114210	0.91[EUR][1000 genomes]
rs67278720	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67622899	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68083905	0.89[EUR][1000 genomes]
rs7163302	0.92[EUR][1000 genomes]
rs7164095	0.81[CEU][hapmap]
rs7167847	0.85[EUR][1000 genomes]
rs7175191	1.00[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs7176873	0.83[TSI][hapmap]
rs72747165	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7359253	0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[TSI][hapmap]
rs8026149	0.91[EUR][1000 genomes]
rs8040866	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042606	0.86[EUR][1000 genomes]
rs9302200	0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv3401951	chr15:57151709-57176189	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2163369	MAPK6	cis	cerebellum	SCAN
rs2163369	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57162200-57178400	Weak transcription	Thymus	Thymus
2	chr15:57163200-57166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:57163400-57165000	Enhancers	Brain Angular Gyrus	brain
4	chr15:57163400-57165800	Enhancers	A549	lung
5	chr15:57163800-57166000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:57164200-57169400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:57164400-57165000	Enhancers	Brain Substantia Nigra	brain
8	chr15:57164400-57166400	Weak transcription	Aorta	Aorta
9	chr15:57164600-57165200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:57164800-57165400	Weak transcription	HepG2	liver
11	chr15:57164800-57178000	Weak transcription	Fetal Muscle Leg	muscle
12	chr15:57164800-57178200	Weak transcription	Fetal Brain Male	brain
13	chr15:57164800-57178400	Weak transcription	Brain Anterior Caudate	brain
14	chr15:57164800-57178600	Weak transcription	Brain Hippocampus Middle	brain

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