Variant report

Variant	rs1449299
Chromosome Location	chr3:100675893-100675894
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100667011..100669832-chr3:100673806..100676127,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13085823	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1375512	0.90[ASN][1000 genomes]
rs1579969	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16843153	0.90[ASN][1000 genomes]
rs17339226	1.00[ASN][1000 genomes]
rs17340282	0.81[ASN][1000 genomes]
rs2713749	1.00[ASN][1000 genomes]
rs2713758	0.95[ASN][1000 genomes]
rs55687619	1.00[ASN][1000 genomes]
rs55936420	0.81[ASN][1000 genomes]
rs56077494	0.81[ASN][1000 genomes]
rs56237429	1.00[ASN][1000 genomes]
rs59476872	0.90[ASN][1000 genomes]
rs6774218	1.00[ASN][1000 genomes]
rs6787197	0.90[ASN][1000 genomes]
rs6787878	1.00[ASN][1000 genomes]
rs73141447	0.81[ASN][1000 genomes]
rs73143038	0.81[ASN][1000 genomes]
rs73143044	0.81[ASN][1000 genomes]
rs73143061	1.00[ASN][1000 genomes]
rs73143062	1.00[ASN][1000 genomes]
rs73143064	1.00[ASN][1000 genomes]
rs73143072	1.00[ASN][1000 genomes]
rs73144908	1.00[ASN][1000 genomes]
rs73144910	1.00[ASN][1000 genomes]
rs73144915	1.00[ASN][1000 genomes]
rs73144970	0.90[ASN][1000 genomes]
rs73149160	0.81[ASN][1000 genomes]
rs7621518	0.90[ASN][1000 genomes]
rs7623956	1.00[ASN][1000 genomes]
rs7625454	1.00[ASN][1000 genomes]
rs7637274	0.81[ASN][1000 genomes]
rs7641631	1.00[ASN][1000 genomes]
rs7643050	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100671800-100677200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:100672200-100677200	Enhancers	NHDF-Ad	bronchial
3	chr3:100672600-100677200	Enhancers	Osteobl	bone
4	chr3:100673800-100676600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:100674200-100676000	Weak transcription	HSMM	muscle
6	chr3:100674200-100676400	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:100674200-100687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:100674200-100688000	Weak transcription	Ovary	ovary
9	chr3:100674400-100676400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:100674400-100676600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:100674400-100684600	Weak transcription	Fetal Stomach	stomach
12	chr3:100674600-100676000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:100674600-100676000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:100674600-100676200	Weak transcription	NHEK	skin
15	chr3:100674600-100677200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:100675000-100677400	Enhancers	HSMMtube	muscle
17	chr3:100675200-100676800	Enhancers	Colon Smooth Muscle	Colon
18	chr3:100675400-100676200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:100675400-100677400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:100675800-100679200	Weak transcription	Aorta	Aorta

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