Variant report

Variant	rs2973119
Chromosome Location	chr5:37851192-37851193
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	chr5:37840566..37843558-chr5:37850227..37851845,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10060017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13361833	0.83[ASN][1000 genomes]
rs1423448	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075680	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075681	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2366621	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910692	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2910694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2910697	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910698	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910699	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2910700	0.88[ASN][1000 genomes]
rs2910701	0.83[ASN][1000 genomes]
rs2910705	0.82[ASN][1000 genomes]
rs2910706	0.82[ASN][1000 genomes]
rs2910707	0.83[ASN][1000 genomes]
rs2910749	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2910757	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910759	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910760	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2910797	0.83[ASN][1000 genomes]
rs2973035	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973036	0.82[ASN][1000 genomes]
rs2973045	0.81[ASN][1000 genomes]
rs2973046	0.82[ASN][1000 genomes]
rs2973047	0.83[ASN][1000 genomes]
rs2973107	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2973112	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2973117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2973118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973120	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2975100	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67720228	0.82[ASN][1000 genomes]
rs884344	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv881401	chr5:37849688-37901408	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37844600-37853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:37847200-37851200	Enhancers	Osteobl	bone
3	chr5:37847200-37851400	Enhancers	NHDF-Ad	bronchial
4	chr5:37847400-37851400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:37848400-37852200	Weak transcription	Aorta	Aorta
6	chr5:37848800-37852200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:37849200-37852800	Weak transcription	NHEK	skin
8	chr5:37849600-37856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:37850600-37852800	Weak transcription	Fetal Kidney	kidney

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