Variant report

Variant	rs4682312
Chromosome Location	chr3:111500772-111500773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10470303	0.93[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11710738	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs11711533	0.80[CEU][hapmap]
rs11711582	0.84[CEU][hapmap]
rs12330761	0.85[CEU][hapmap]
rs2137595	0.84[CEU][hapmap]
rs4413291	0.84[CEU][hapmap]
rs4682299	0.88[CEU][hapmap]
rs4682303	0.85[CEU][hapmap]
rs4682305	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs4682314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6784753	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs6786292	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6786612	0.93[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6788543	0.84[CEU][hapmap]
rs6796087	0.84[CEU][hapmap]
rs7649732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818574	0.93[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9823974	0.93[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9868909	0.88[CEU][hapmap]
rs9870656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111487800-111521000	Weak transcription	Gastric	stomach
2	chr3:111488000-111501400	Weak transcription	Psoas Muscle	Psoas
3	chr3:111493400-111500800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:111496000-111514000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:111496400-111501200	Weak transcription	Fetal Intestine Large	intestine
6	chr3:111497400-111501400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:111499000-111518800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:111499400-111501800	Enhancers	Fetal Heart	heart
9	chr3:111499400-111504000	Enhancers	Liver	Liver
10	chr3:111500000-111501400	Enhancers	HSMMtube	muscle
11	chr3:111500200-111501400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:111500200-111501400	Enhancers	NH-A	brain
13	chr3:111500200-111502000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:111500200-111502400	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:111500200-111504000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:111500200-111504000	Enhancers	NHDF-Ad	bronchial
17	chr3:111500400-111500800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:111500400-111503000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:111500600-111501200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:111500600-111501600	Active TSS	Colon Smooth Muscle	Colon
21	chr3:111500600-111501600	Enhancers	Pancreas	Pancrea
22	chr3:111500600-111501600	Enhancers	A549	lung
23	chr3:111500600-111502200	Enhancers	HepG2	liver
24	chr3:111500600-111503400	Enhancers	Fetal Lung	lung

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