Variant report

Variant	rs10064079
Chromosome Location	chr5:70945075-70945076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10058683	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10805891	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1135667	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1391180	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242372	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6453080	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875115	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888301	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7731970	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv532805	chr5:70916228-71020967	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10064079	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70898400-70955000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:70898600-70948400	Weak transcription	Brain Germinal Matrix	brain
3	chr5:70900200-70945200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:70906600-70952400	Weak transcription	Stomach Mucosa	stomach
5	chr5:70914200-70948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:70915400-70950800	Weak transcription	NHLF	lung
7	chr5:70919800-70955000	Weak transcription	HUVEC	blood vessel
8	chr5:70925400-70950600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:70926600-70954000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:70927000-70954000	Strong transcription	Dnd41	blood
11	chr5:70927000-70954200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:70928800-70945800	Weak transcription	NHEK	skin
13	chr5:70930400-70952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:70931400-70953600	Weak transcription	HSMM	muscle
15	chr5:70931600-70945200	Weak transcription	HMEC	breast
16	chr5:70931600-70947000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:70933200-70945200	Weak transcription	NH-A	brain
18	chr5:70933400-70946200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:70934800-70945600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:70934800-70953800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:70935000-70955800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:70935400-70947600	Weak transcription	Fetal Brain Male	brain
23	chr5:70935600-70945200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:70935600-70948600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:70936600-70955200	Weak transcription	Fetal Heart	heart
26	chr5:70937000-70947000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:70938000-70947000	Weak transcription	NHDF-Ad	bronchial
28	chr5:70938400-70954000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:70938600-70945200	Weak transcription	HSMMtube	muscle
30	chr5:70938600-70948400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:70938800-70947200	Weak transcription	Pancreas	Pancrea
32	chr5:70938800-70948200	Weak transcription	Fetal Brain Female	brain
33	chr5:70939400-70948600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:70940800-70954600	Strong transcription	Liver	Liver
35	chr5:70941000-70950000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr5:70941000-70951400	Strong transcription	Fetal Intestine Large	intestine
37	chr5:70941200-70955000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:70941400-70946400	Strong transcription	Primary T cells from cord blood	blood
39	chr5:70941400-70946400	Strong transcription	GM12878-XiMat	blood
40	chr5:70941400-70947200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:70941400-70950000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:70941400-70950000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:70941400-70950200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:70941400-70954200	Strong transcription	Placenta	Placenta
45	chr5:70941400-70954400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr5:70941400-70954400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr5:70941400-70954600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:70941400-70954600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:70941600-70945600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr5:70941600-70948800	Strong transcription	Left Ventricle	heart

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