Variant report

Variant	rs2283346
Chromosome Location	chr12:48107643-48107644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48105375..48108233-chr12:48109285..48111449,2	MCF-7	breast:
2	chr12:48106748..48108778-chr12:48238492..48240922,2	K562	blood:
3	chr12:48106351..48108219-chr12:48108927..48111607,2	K562	blood:
4	chr12:48105294..48107862-chr12:48168129..48170112,2	MCF-7	breast:
5	chr12:48106450..48109215-chr12:48211629..48213525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257433	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10783212	0.93[ASN][1000 genomes]
rs10875677	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10875682	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875685	0.83[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10875686	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10875687	0.89[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10875688	0.88[ASN][1000 genomes]
rs11168191	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168192	0.93[CEU][hapmap];0.94[CHB][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168193	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168199	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168200	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168203	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168208	0.88[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11168214	0.88[ASN][1000 genomes]
rs11168215	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11168216	0.88[ASN][1000 genomes]
rs12366410	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12367193	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12370643	0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs1541384	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2072117	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2240079	0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2240080	0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3764013	0.88[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56240307	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs582680	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs602143	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs612773	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61917590	0.87[ASN][1000 genomes]
rs61917591	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61917594	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61917595	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61917616	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61917617	0.88[ASN][1000 genomes]
rs630777	0.87[ASN][1000 genomes]
rs632944	0.87[ASN][1000 genomes]
rs646223	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580634	0.95[ASN][1000 genomes]
rs671961	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7136561	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137529	0.87[ASN][1000 genomes]
rs7311663	0.94[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs7484827	0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7954502	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7969186	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7976748	0.89[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977613	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2283346	ENDOU	cis	Thyroid	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48100000-48109200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:48100000-48111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:48100600-48108800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:48100600-48109000	Weak transcription	Aorta	Aorta
5	chr12:48100600-48109000	Weak transcription	Lung	lung
6	chr12:48100800-48108800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:48100800-48108800	Weak transcription	Right Ventricle	heart
8	chr12:48100800-48109400	Weak transcription	HSMM	muscle
9	chr12:48101000-48108800	Weak transcription	Brain Angular Gyrus	brain
10	chr12:48101000-48108800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:48101000-48108800	Weak transcription	Brain Substantia Nigra	brain
12	chr12:48101000-48108800	Weak transcription	Fetal Lung	lung
13	chr12:48101000-48108800	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:48101000-48109000	Weak transcription	Fetal Heart	heart
15	chr12:48101000-48109200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:48101000-48109200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:48101200-48109200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:48101400-48108000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:48101400-48108800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:48101400-48108800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:48101400-48109600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:48101400-48111000	Weak transcription	Colonic Mucosa	Colon
23	chr12:48101400-48111200	Weak transcription	Small Intestine	intestine
24	chr12:48101800-48111200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:48102000-48109200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:48102200-48108200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:48102200-48108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:48102200-48108800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:48102200-48108800	Weak transcription	Spleen	Spleen
30	chr12:48102200-48109000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:48102400-48108800	Weak transcription	Liver	Liver
32	chr12:48102800-48125000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr12:48103000-48109200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:48103000-48109400	Weak transcription	Primary T cells from cord blood	blood
35	chr12:48103200-48109000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:48103200-48109000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:48103200-48111200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:48103400-48109000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr12:48103400-48111000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:48103600-48108600	Weak transcription	Adipose Nuclei	Adipose
41	chr12:48103600-48109000	Strong transcription	Placenta	Placenta
42	chr12:48103800-48109000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:48103800-48109200	Weak transcription	K562	blood
44	chr12:48104000-48109000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:48104400-48108800	Weak transcription	GM12878-XiMat	blood
46	chr12:48104400-48109000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:48104600-48109000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:48104600-48109000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:48104600-48113000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr12:48104800-48108800	Weak transcription	Primary B cells from cord blood	blood

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