Variant report

Variant	rs2283363
Chromosome Location	chr12:120671694-120671695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:
2	chr12:120628211..120641965-chr12:120660551..120674110,39	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000089154	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1151821	0.91[ASN][1000 genomes]
rs1151822	0.88[ASN][1000 genomes]
rs1151823	0.95[ASN][1000 genomes]
rs1151826	0.90[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs1151828	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs1151833	0.95[ASN][1000 genomes]
rs1151835	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs1151836	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs1166788	0.95[ASN][1000 genomes]
rs1166789	0.90[ASN][1000 genomes]
rs1179386	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs12322327	0.90[ASN][1000 genomes]
rs12580333	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12580868	1.00[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12582981	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1632619	0.95[ASN][1000 genomes]
rs1634820	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs2239207	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs2701641	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs3847968	1.00[CHB][hapmap]
rs58777856	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58919380	0.95[ASN][1000 genomes]
rs60134107	0.95[ASN][1000 genomes]
rs60282545	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61633133	0.95[ASN][1000 genomes]
rs71541558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
5	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
6	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2283363	SIRT4	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120664400-120675800	Enhancers	Stomach Mucosa	stomach
2	chr12:120665200-120692000	Enhancers	Placenta	Placenta
3	chr12:120665400-120673200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:120665400-120674200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120665400-120676800	Enhancers	Fetal Heart	heart
6	chr12:120665400-120682200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:120665600-120673800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120665600-120674200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:120665600-120674200	Enhancers	Fetal Lung	lung
10	chr12:120665600-120675400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:120665600-120682200	Enhancers	Left Ventricle	heart
12	chr12:120665800-120673600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:120665800-120674000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:120665800-120674400	Enhancers	Psoas Muscle	Psoas
15	chr12:120665800-120675400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:120666000-120672800	Enhancers	Right Atrium	heart
17	chr12:120666000-120674200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:120666000-120677200	Enhancers	Lung	lung
19	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:120666800-120673200	Enhancers	Spleen	Spleen
21	chr12:120666800-120673800	Enhancers	Liver	Liver
22	chr12:120666800-120674000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:120666800-120674200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:120667000-120672400	Enhancers	Brain Hippocampus Middle	brain
25	chr12:120667400-120672400	Weak transcription	Fetal Brain Male	brain
26	chr12:120667400-120674200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr12:120667800-120673800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:120668200-120675400	Enhancers	Fetal Intestine Large	intestine
29	chr12:120668800-120671800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr12:120668800-120674000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:120669000-120672400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:120669000-120672600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:120669000-120672600	Weak transcription	Fetal Brain Female	brain
34	chr12:120669000-120672800	Enhancers	HepG2	liver
35	chr12:120669000-120674000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:120669000-120674200	Enhancers	Right Ventricle	heart
37	chr12:120669000-120675200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:120669000-120675400	Enhancers	HMEC	breast
39	chr12:120669200-120671800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:120669200-120674200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr12:120669200-120674400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr12:120669200-120675400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:120669200-120676200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:120669400-120671800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:120669400-120673800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:120669400-120677400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:120669400-120677800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr12:120669600-120672400	Enhancers	Adipose Nuclei	Adipose
49	chr12:120669600-120672400	Enhancers	NH-A	brain
50	chr12:120669600-120672400	Enhancers	NHLF	lung

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