Variant report

Variant	rs61781049
Chromosome Location	chr1:94212711-94212712
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94210546..94213196-chr1:94216011..94218265,2	K562	blood:
2	chr1:94207201..94209502-chr1:94212194..94214368,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1108527	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1108528	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11164994	0.94[EUR][1000 genomes]
rs12076307	0.96[ASN][1000 genomes]
rs12239830	0.94[EUR][1000 genomes]
rs1467129	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs17100397	0.92[EUR][1000 genomes]
rs17110394	0.96[ASN][1000 genomes]
rs17304770	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17878271	0.83[EUR][1000 genomes]
rs17878294	0.83[EUR][1000 genomes]
rs17881810	0.83[EUR][1000 genomes]
rs17884788	0.83[EUR][1000 genomes]
rs17885151	0.83[EUR][1000 genomes]
rs17886352	0.83[EUR][1000 genomes]
rs1877605	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2223908	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3761913	0.87[EUR][1000 genomes]
rs41292665	0.88[EUR][1000 genomes]
rs4526623	0.96[ASN][1000 genomes]
rs57870303	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61425457	0.94[EUR][1000 genomes]
rs61781046	0.93[AMR][1000 genomes]
rs61781048	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61781051	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61781053	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61781054	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61781055	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61781056	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61781057	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61782162	0.88[EUR][1000 genomes]
rs61782163	0.88[EUR][1000 genomes]
rs61782164	0.87[EUR][1000 genomes]
rs61782165	0.83[EUR][1000 genomes]
rs61782398	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61782399	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61782400	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61782403	0.94[EUR][1000 genomes]
rs61782404	0.96[EUR][1000 genomes]
rs61782405	0.96[EUR][1000 genomes]
rs61782410	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61782413	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61782449	0.90[EUR][1000 genomes]
rs61782450	0.92[EUR][1000 genomes]
rs61782451	0.92[EUR][1000 genomes]
rs61782458	0.87[EUR][1000 genomes]
rs61782459	0.85[EUR][1000 genomes]
rs6541394	0.86[ASN][1000 genomes]
rs6674149	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72723114	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72723118	0.92[EUR][1000 genomes]
rs72723125	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723138	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72723157	0.96[EUR][1000 genomes]
rs72723165	0.96[EUR][1000 genomes]
rs72723169	0.92[EUR][1000 genomes]
rs72723178	0.88[EUR][1000 genomes]
rs7523682	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555914	0.96[ASN][1000 genomes]
rs871436	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]

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	esv3320426	chr1:94212708-94213724	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61781049	GCLM	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94199400-94217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94208200-94215600	Weak transcription	Aorta	Aorta
3	chr1:94210800-94215600	Weak transcription	Thymus	Thymus
4	chr1:94211800-94215600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:94212400-94213200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:94212400-94213200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:94212400-94214400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:94212600-94212800	Weak transcription	Pancreas	Pancrea
9	chr1:94212600-94213000	ZNF genes & repeats	Esophagus	oesophagus
10	chr1:94212600-94213200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:94212600-94213200	ZNF genes & repeats	NHEK	skin
12	chr1:94212600-94213400	ZNF genes & repeats	HMEC	breast
13	chr1:94212600-94215200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:94212600-94217200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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