Variant report

Variant	rs4623773
Chromosome Location	chr1:212048583-212048584
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212044302..212046599-chr1:212047818..212049772,2	K562	blood:
2	chr1:212046115..212050313-chr1:212051402..212055814,5	K562	blood:
3	chr1:212043331..212045802-chr1:212047049..212049318,2	K562	blood:
4	chr1:212038882..212041641-chr1:212046600..212049264,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10863929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119807	0.85[ASN][1000 genomes]
rs11119813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11487823	0.94[ASN][1000 genomes]
rs1157168	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12059988	0.91[ASN][1000 genomes]
rs12076991	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12077561	0.94[ASN][1000 genomes]
rs12084756	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12085235	0.89[ASN][1000 genomes]
rs12085288	0.89[ASN][1000 genomes]
rs12088743	0.85[ASN][1000 genomes]
rs12090490	0.94[ASN][1000 genomes]
rs12095938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs12410970	0.85[ASN][1000 genomes]
rs28768080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28800280	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862981	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2970578	0.86[JPT][hapmap]
rs3738197	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3862952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[ASN][1000 genomes]
rs4447046	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4466708	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4537651	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4562685	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56132364	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828259	0.85[ASN][1000 genomes]
rs61828491	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61828492	0.88[ASN][1000 genomes]
rs61828510	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6540709	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6662067	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6664082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6666948	0.86[JPT][hapmap]
rs6678582	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684049	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs6704043	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs7518896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7524009	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7534335	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7547097	0.86[JPT][hapmap]

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	esv2762218	chr1:212046447-212087682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4623773	INTS7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212048000-212048600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:212048000-212048600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:212048000-212048600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr1:212048200-212048600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:212048200-212048600	Enhancers	Adipose Nuclei	Adipose
6	chr1:212048200-212048600	Enhancers	Liver	Liver
7	chr1:212048400-212049000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:212048400-212049800	Weak transcription	Fetal Muscle Leg	muscle

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