Variant report

Variant	rs9941114
Chromosome Location	chr16:80193030-80193031
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80192243..80194874-chr16:80195006..80196589,2	K562	blood:
2	chr16:80192745..80194874-chr16:80195006..80196730,2	K562	blood:
3	chr16:80110668..80112262-chr16:80192001..80193923,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12102687	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12103210	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12598278	0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16952553	0.88[EUR][1000 genomes]
rs16952602	0.89[EUR][1000 genomes]
rs16952610	0.92[EUR][1000 genomes]
rs16952612	0.92[EUR][1000 genomes]
rs16952615	0.91[EUR][1000 genomes]
rs17734628	0.88[EUR][1000 genomes]
rs17794680	0.85[EUR][1000 genomes]
rs17794789	0.88[EUR][1000 genomes]
rs17794813	0.88[EUR][1000 genomes]
rs17796486	0.91[EUR][1000 genomes]
rs1871208	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1904189	0.81[EUR][1000 genomes]
rs28396536	0.82[ASN][1000 genomes]
rs4889113	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4889114	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4889117	0.92[EUR][1000 genomes]
rs4889118	0.92[EUR][1000 genomes]
rs61540470	0.92[EUR][1000 genomes]
rs6564742	0.89[AMR][1000 genomes]
rs6564743	0.89[AMR][1000 genomes]
rs7192068	0.88[EUR][1000 genomes]
rs74028037	0.87[EUR][1000 genomes]
rs74028038	0.87[EUR][1000 genomes]
rs74041375	0.91[EUR][1000 genomes]
rs7499082	0.80[EUR][1000 genomes]
rs8044077	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8045802	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8060581	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9921356	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9934115	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv833298	chr16:80122337-80314603	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1055982	chr16:80151604-80202923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80186600-80197600	Weak transcription	HSMMtube	muscle
2	chr16:80191200-80193600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:80191600-80193600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:80191800-80193400	Enhancers	Osteobl	bone
5	chr16:80191800-80193600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr16:80191800-80193600	Enhancers	NH-A	brain
7	chr16:80191800-80193800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:80192000-80193400	Enhancers	HMEC	breast
9	chr16:80192000-80193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:80192000-80193600	Enhancers	HUVEC	blood vessel
11	chr16:80192200-80193600	Enhancers	NHEK	skin
12	chr16:80192400-80193200	Enhancers	A549	lung
13	chr16:80192400-80193400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:80192400-80193600	Enhancers	HSMM	muscle
15	chr16:80192600-80193200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:80192600-80193200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr16:80192600-80193400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:80192600-80193600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:80192800-80193400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:80192800-80193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:80192800-80193400	Enhancers	NHLF	lung
22	chr16:80192800-80197600	Weak transcription	Pancreas	Pancrea

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