Variant report

Variant	rs1038295
Chromosome Location	chr3:99491497-99491498
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10804762	0.90[ASN][1000 genomes]
rs12485299	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12486901	0.87[ASN][1000 genomes]
rs12487173	0.81[EUR][1000 genomes]
rs12489030	0.87[ASN][1000 genomes]
rs1492343	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1610265	0.85[EUR][1000 genomes]
rs1871847	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35590972	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3732444	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3921767	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4928143	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4928222	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55964918	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56094673	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56140081	0.87[ASN][1000 genomes]
rs56223679	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs56260910	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56335268	0.84[ASN][1000 genomes]
rs60119031	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61010376	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6789694	0.93[EUR][1000 genomes]
rs6792339	0.87[ASN][1000 genomes]
rs6800456	0.87[ASN][1000 genomes]
rs73858966	0.87[ASN][1000 genomes]
rs73859911	0.87[ASN][1000 genomes]
rs73860464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73860470	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7632345	0.87[ASN][1000 genomes]
rs7635871	0.87[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:23 , 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	chr3:99472400-99493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99472400-99493000	Weak transcription	NHEK	skin
4	chr3:99472400-99493400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:99482400-99493000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:99484400-99493200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:99484400-99493400	Weak transcription	Aorta	Aorta
8	chr3:99484400-99500400	Weak transcription	HSMMtube	muscle
9	chr3:99485200-99493200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:99485200-99493200	Weak transcription	NH-A	brain
11	chr3:99485200-99493200	Weak transcription	NHLF	lung
12	chr3:99485200-99493400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:99486800-99493000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:99487600-99493000	Weak transcription	NHDF-Ad	bronchial
15	chr3:99488200-99493400	Weak transcription	HUVEC	blood vessel
16	chr3:99488400-99493200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:99488400-99493200	Weak transcription	Osteobl	bone
18	chr3:99489600-99493200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:99490000-99494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:99490800-99493000	Weak transcription	HSMM	muscle
21	chr3:99491000-99492000	Enhancers	Brain Substantia Nigra	brain
22	chr3:99491000-99492200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:99491200-99491800	Enhancers	Brain Cingulate Gyrus	brain

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