Variant report

Variant	rs1146101
Chromosome Location	chr12:63688528-63688529
allele	C/G
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:6)

rs_ID	r²[population]
rs10878033	0.90[ASN][1000 genomes]
rs11174926	0.86[ASN][1000 genomes]
rs1146105	0.91[ASN][1000 genomes]
rs1146106	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1250660	0.91[ASN][1000 genomes]
rs1827075	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832438	chr12:63571652-63745827	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:63680000-63689600	Enhancers	Dnd41	blood
2	chr12:63684400-63689400	Enhancers	Fetal Kidney	kidney
3	chr12:63686200-63688800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:63686200-63689000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:63686600-63688800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:63686800-63688800	Enhancers	NHDF-Ad	bronchial
7	chr12:63686800-63689000	Enhancers	NH-A	brain
8	chr12:63687000-63691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:63687400-63688800	Enhancers	HepG2	liver
10	chr12:63687400-63689200	Enhancers	HUVEC	blood vessel
11	chr12:63687600-63688600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:63687600-63688800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:63687600-63688800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:63687600-63688800	Flanking Active TSS	A549	lung
15	chr12:63687600-63688800	Enhancers	HSMM	muscle
16	chr12:63687600-63689200	Enhancers	HMEC	breast
17	chr12:63687600-63696000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:63687800-63688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:63687800-63688800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:63688200-63688600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:63688200-63692200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:63688400-63688600	Enhancers	Stomach Mucosa	stomach
23	chr12:63688400-63689400	Weak transcription	Fetal Stomach	stomach
24	chr12:63688400-63695000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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