Variant report

Variant	rs41286864
Chromosome Location	chr1:57536454-57536455
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	chr1:57531940..57535705-chr1:57536134..57539998,5	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12406184	0.86[EUR][1000 genomes]
rs12563280	0.86[EUR][1000 genomes]
rs12566131	0.86[EUR][1000 genomes]
rs12567967	0.86[EUR][1000 genomes]
rs12568928	0.86[EUR][1000 genomes]
rs12568979	0.86[EUR][1000 genomes]
rs12569224	0.86[EUR][1000 genomes]
rs17115222	1.00[EUR][1000 genomes]
rs17115397	0.86[EUR][1000 genomes]
rs61765266	1.00[EUR][1000 genomes]
rs61765267	1.00[EUR][1000 genomes]
rs61765271	1.00[EUR][1000 genomes]
rs61765330	1.00[EUR][1000 genomes]
rs61765331	1.00[EUR][1000 genomes]
rs61765332	1.00[EUR][1000 genomes]
rs61765333	0.86[EUR][1000 genomes]
rs61765561	0.86[EUR][1000 genomes]
rs61765563	0.86[EUR][1000 genomes]
rs61765578	0.86[EUR][1000 genomes]
rs61765580	0.86[EUR][1000 genomes]
rs61765581	0.86[EUR][1000 genomes]
rs61765586	0.86[EUR][1000 genomes]
rs61765589	0.86[EUR][1000 genomes]
rs61765590	0.86[EUR][1000 genomes]
rs61765591	0.86[EUR][1000 genomes]
rs61765592	0.86[EUR][1000 genomes]
rs61765593	0.86[EUR][1000 genomes]
rs61765594	0.86[EUR][1000 genomes]
rs61765595	0.86[EUR][1000 genomes]
rs61765623	0.86[EUR][1000 genomes]
rs61767494	0.86[EUR][1000 genomes]
rs61767495	0.86[EUR][1000 genomes]
rs61767496	0.86[EUR][1000 genomes]
rs61767497	0.86[EUR][1000 genomes]
rs61767499	0.86[EUR][1000 genomes]
rs61767500	0.86[EUR][1000 genomes]
rs61767501	0.86[EUR][1000 genomes]
rs61767502	0.86[EUR][1000 genomes]
rs61767509	0.86[EUR][1000 genomes]
rs61767510	0.86[EUR][1000 genomes]
rs61767511	0.86[EUR][1000 genomes]
rs61767512	0.86[EUR][1000 genomes]
rs61767514	0.86[EUR][1000 genomes]
rs61767515	0.86[EUR][1000 genomes]
rs61767516	0.86[EUR][1000 genomes]
rs61767517	0.86[EUR][1000 genomes]
rs6695086	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41286864	TRAP1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57530800-57548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57533000-57538400	Weak transcription	Fetal Brain Female	brain
3	chr1:57533600-57538400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:57533800-57537800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:57534000-57536600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:57534000-57551000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:57534000-57552600	Weak transcription	Fetal Intestine Large	intestine
8	chr1:57534200-57538000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:57534200-57538200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:57535000-57537000	Enhancers	Fetal Brain Male	brain
11	chr1:57535400-57537000	Weak transcription	Fetal Heart	heart
12	chr1:57536000-57536600	Enhancers	Fetal Muscle Leg	muscle

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