Variant report

Variant	rs41357149
Chromosome Location	chr5:119861955-119861956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119799492..119801330-chr5:119860595..119862492,2	K562	blood:
2	chr5:119848883..119851465-chr5:119858913..119862355,3	K562	blood:
3	chr5:119859163..119862505-chr5:119863189..119865594,3	K562	blood:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12523269	1.00[CHB][hapmap]
rs1404300	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1454982	0.85[ASN][1000 genomes]
rs17146705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1902147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2601208	1.00[JPT][hapmap]
rs2601210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2601211	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2604163	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2604165	0.85[ASN][1000 genomes]
rs2655067	1.00[JPT][hapmap]
rs2655069	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4895261	1.00[JPT][hapmap]
rs6595236	1.00[CHB][hapmap]
rs6883068	1.00[JPT][hapmap]
rs6892665	0.85[ASN][1000 genomes]
rs72786234	0.81[AMR][1000 genomes]
rs72786244	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72786259	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72786260	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786263	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788220	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788221	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788222	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788223	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788224	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788225	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710928	1.00[CHB][hapmap]
rs7733602	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41357149	UTS2	trans	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
2	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119853200-119863000	Weak transcription	HSMM	muscle
4	chr5:119853400-119864000	Weak transcription	NHDF-Ad	bronchial
5	chr5:119853800-119862800	Weak transcription	HSMMtube	muscle
6	chr5:119854000-119868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:119854600-119864000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:119854600-119864200	Weak transcription	Osteobl	bone
9	chr5:119857400-119864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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