Variant report

Variant	rs61748115
Chromosome Location	chr12:120741382-120741383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120737630..120743237-chr12:120750628..120756565,17	MCF-7	breast:
2	chr12:120739185..120741546-chr12:120749401..120751491,2	K562	blood:

Variant related genes	Relation type
ENSG00000252659	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12299143	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12423303	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424233	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12424555	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425936	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12426900	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12427069	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12427095	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16950044	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16950047	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16950058	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950061	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950065	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950101	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238158	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238161	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2464296	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2522140	0.81[EUR][1000 genomes]
rs2701643	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905543	0.83[EUR][1000 genomes]
rs3847967	0.84[EUR][1000 genomes]
rs3847968	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3847969	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3898618	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56237802	0.86[ASN][1000 genomes]
rs5634	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56733641	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57141366	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57279831	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57384430	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58232894	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59447311	0.85[EUR][1000 genomes]
rs59768240	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60176939	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60731947	0.86[EUR][1000 genomes]
rs61140476	0.85[EUR][1000 genomes]
rs61592165	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61665022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960401	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977875	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9657936	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657937	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9657941	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657942	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657948	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers 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 target site	433 gene(s)	inside rSNPs	diseases
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	429 gene(s)	inside rSNPs	diseases
8	esv2763006	chr12:120731346-120750746	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61748115	SIRT4	cis	multi-tissue	Pritchard

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120740000-120741400	Active TSS	Brain Germinal Matrix	brain
2	chr12:120740000-120741600	Active TSS	Brain Substantia Nigra	brain
3	chr12:120740000-120742200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:120740400-120754600	Weak transcription	Stomach Mucosa	stomach
5	chr12:120740400-120754800	Weak transcription	Spleen	Spleen
6	chr12:120740600-120742000	Enhancers	Fetal Brain Male	brain
7	chr12:120740600-120754600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:120740600-120754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:120740800-120741600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:120740800-120741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:120740800-120741600	Enhancers	Lung	lung
12	chr12:120740800-120742400	Enhancers	Pancreas	Pancrea
13	chr12:120740800-120747000	Weak transcription	Colonic Mucosa	Colon
14	chr12:120741000-120741400	Weak transcription	Fetal Stomach	stomach
15	chr12:120741000-120741400	Enhancers	Thymus	Thymus
16	chr12:120741000-120741400	Enhancers	Dnd41	blood
17	chr12:120741000-120741600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:120741000-120741600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:120741000-120741600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:120741000-120741600	Weak transcription	Fetal Thymus	thymus
21	chr12:120741000-120741600	Weak transcription	Ovary	ovary
22	chr12:120741000-120741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:120741000-120741800	Enhancers	Left Ventricle	heart
24	chr12:120741000-120742600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:120741000-120744000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:120741000-120744400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:120741000-120745400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:120741000-120747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:120741000-120754200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:120741000-120754200	Weak transcription	Placenta	Placenta
31	chr12:120741000-120754400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:120741000-120754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:120741000-120754600	Weak transcription	Primary T cells from cord blood	blood
34	chr12:120741000-120754600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:120741000-120754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:120741000-120754600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:120741000-120754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:120741000-120754600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:120741000-120754600	Weak transcription	Brain Angular Gyrus	brain
40	chr12:120741000-120754600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:120741000-120754600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:120741000-120754600	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:120741000-120754600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:120741000-120754600	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:120741000-120754600	Weak transcription	Fetal Heart	heart
46	chr12:120741000-120754600	Weak transcription	Fetal Intestine Small	intestine
47	chr12:120741000-120754600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:120741000-120754600	Weak transcription	Right Ventricle	heart
49	chr12:120741000-120754600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:120741200-120741600	Enhancers	Rectal Smooth Muscle	rectum

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