Variant report

Variant	rs793487
Chromosome Location	chr3:99495422-99495423
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs704575	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs704576	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs792832	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs792840	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs792841	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs793479	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs793480	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793490	0.84[ASN][1000 genomes]
rs793491	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv3463437	chr3:99491122-99495551	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a
6	esv3463438	chr3:99491122-99495551	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99462400-99495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:99484400-99500400	Weak transcription	HSMMtube	muscle
3	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:99493000-99496800	Enhancers	NHDF-Ad	bronchial
5	chr3:99493000-99497800	Genic enhancers	HSMM	muscle
6	chr3:99493200-99499400	Genic enhancers	Osteobl	bone
7	chr3:99493600-99496000	Weak transcription	Placenta	Placenta
8	chr3:99493800-99496000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:99494000-99499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:99494200-99495600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:99494200-99500400	Weak transcription	HMEC	breast
12	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:99494400-99495800	Enhancers	HUVEC	blood vessel
14	chr3:99494400-99498400	Weak transcription	Aorta	Aorta
15	chr3:99494600-99496000	Enhancers	NHLF	lung
16	chr3:99494600-99500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:99494800-99496400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:99494800-99496400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:99495000-99496000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:99495000-99496000	Enhancers	NHEK	skin
21	chr3:99495000-99496600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:99495000-99497200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr3:99495200-99495600	Flanking Active TSS	K562	blood
24	chr3:99495200-99495800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:99495200-99496400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:99495200-99496400	Enhancers	NH-A	brain
27	chr3:99495400-99495800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:99495400-99496800	Enhancers	Fetal Stomach	stomach

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