Variant report

Variant	rs2122226
Chromosome Location	chr3:100784396-100784397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1375509	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1375514	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1597308	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1839304	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1868496	0.84[ASN][1000 genomes]
rs1900910	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197897	0.98[EUR][1000 genomes]
rs2197900	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317336	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317338	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2595918	0.84[ASN][1000 genomes]
rs2595919	0.84[ASN][1000 genomes]
rs2713741	0.86[AFR][1000 genomes]
rs2713743	0.84[ASN][1000 genomes]
rs6794494	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9824042	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9835687	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9835849	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872927	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881220	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv591176	chr3:100763611-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv591177	chr3:100767398-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3344837	chr3:100774311-100789597	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100781800-100785200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:100782000-100785000	Enhancers	NHDF-Ad	bronchial
3	chr3:100783000-100784600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:100783400-100784600	Enhancers	A549	lung
5	chr3:100783400-100784600	Enhancers	HSMMtube	muscle
6	chr3:100783400-100785200	Enhancers	NHLF	lung
7	chr3:100783600-100784400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:100783600-100784400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:100783600-100785000	Enhancers	Ovary	ovary
10	chr3:100783600-100785200	Enhancers	NHEK	skin
11	chr3:100783600-100785600	Enhancers	HMEC	breast
12	chr3:100783600-100786000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:100783600-100786000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:100783600-100786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:100783600-100786000	Enhancers	HUVEC	blood vessel
16	chr3:100783800-100784600	Enhancers	Osteobl	bone
17	chr3:100783800-100784800	Weak transcription	Aorta	Aorta
18	chr3:100783800-100785000	Enhancers	Fetal Stomach	stomach
19	chr3:100783800-100786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:100783800-100786000	Enhancers	Colon Smooth Muscle	Colon
21	chr3:100784000-100784400	Enhancers	Small Intestine	intestine
22	chr3:100784000-100784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:100784000-100785200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:100784000-100786000	Enhancers	Hela-S3	cervix
25	chr3:100784000-100786000	Enhancers	HSMM	muscle
26	chr3:100784200-100784800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:100784200-100785000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:100784200-100785800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:100784200-100785800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:100784200-100786000	Enhancers	NH-A	brain

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