Variant report

Variant	rs12196019
Chromosome Location	chr6:31005483-31005484
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10456390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757361	0.86[ASN][1000 genomes]
rs12191595	0.85[ASN][1000 genomes]
rs12193866	1.00[ASN][1000 genomes]
rs12196237	0.93[ASN][1000 genomes]
rs12197587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202207	1.00[ASN][1000 genomes]
rs12207025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212799	0.93[ASN][1000 genomes]
rs12214258	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12215963	0.86[ASN][1000 genomes]
rs13191523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201872	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13212987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189812	0.93[ASN][1000 genomes]
rs17189826	1.00[ASN][1000 genomes]
rs3094086	0.86[ASN][1000 genomes]
rs3132580	0.86[ASN][1000 genomes]
rs3132581	0.86[ASN][1000 genomes]
rs41257954	0.86[ASN][1000 genomes]
rs55883436	0.87[ASN][1000 genomes]
rs73727119	0.86[ASN][1000 genomes]
rs73727120	0.86[ASN][1000 genomes]
rs73727123	0.86[ASN][1000 genomes]
rs73727137	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31003400-31006200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:31003600-31005800	Enhancers	Hela-S3	cervix
3	chr6:31003800-31005800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:31004000-31005800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:31004000-31006000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:31004400-31005600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:31004400-31006000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:31004400-31006000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:31004400-31006000	Enhancers	Pancreas	Pancrea
10	chr6:31004400-31007800	Enhancers	Stomach Mucosa	stomach
11	chr6:31004400-31010800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:31004800-31005600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:31004800-31006000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:31004800-31006000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:31004800-31006000	Enhancers	Lung	lung
16	chr6:31004800-31006000	Flanking Active TSS	NHDF-Ad	bronchial
17	chr6:31004800-31007600	Enhancers	Gastric	stomach
18	chr6:31005000-31005600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:31005000-31005800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:31005000-31005800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:31005000-31005800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:31005000-31006000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:31005200-31005600	Flanking Active TSS	Osteobl	bone
24	chr6:31005200-31005800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:31005200-31005800	Weak transcription	Right Atrium	heart
26	chr6:31005200-31006000	Enhancers	Brain Angular Gyrus	brain
27	chr6:31005200-31006000	Enhancers	Brain Anterior Caudate	brain
28	chr6:31005200-31006000	Enhancers	HMEC	breast
29	chr6:31005200-31006000	Enhancers	NH-A	brain
30	chr6:31005400-31005600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr6:31005400-31006200	Enhancers	HSMM	muscle
32	chr6:31005400-31006200	Enhancers	HSMMtube	muscle

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