Variant report

Variant	rs1449307
Chromosome Location	chr3:100709617-100709618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1349198	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449306	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449309	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66827303	0.85[ASN][1000 genomes]
rs749869	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9844950	0.82[EUR][1000 genomes]
rs9849371	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9852414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100692600-100711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100700400-100711200	Weak transcription	Esophagus	oesophagus
3	chr3:100701800-100711000	Weak transcription	Aorta	Aorta
4	chr3:100702000-100710200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:100702000-100710800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:100702200-100709800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:100702200-100711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:100702400-100710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:100707200-100711200	Weak transcription	Gastric	stomach
10	chr3:100707200-100711200	Weak transcription	Lung	lung
11	chr3:100708600-100710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:100708600-100711000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:100708800-100710200	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:100708800-100710600	Weak transcription	NHEK	skin
15	chr3:100709000-100712600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:100709200-100710200	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:100709200-100713000	Active TSS	Stomach Smooth Muscle	stomach
18	chr3:100709600-100709800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:100709600-100709800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:100709600-100709800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr3:100709600-100709800	Flanking Active TSS	Fetal Stomach	stomach
22	chr3:100709600-100709800	Flanking Active TSS	NHDF-Ad	bronchial
23	chr3:100709600-100709800	Flanking Active TSS	Osteobl	bone
24	chr3:100709600-100710600	Enhancers	Ovary	ovary
25	chr3:100709600-100711600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:100709600-100712400	Active TSS	HSMMtube	muscle

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