Variant report

Variant	rs10161316
Chromosome Location	chr12:106316253-106316254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106315778..106318266-chr12:106327212..106330143,3	MCF-7	breast:
2	chr12:106315789..106319466-chr12:106324083..106326577,3	MCF-7	breast:
3	chr12:106315341..106317529-chr12:106329436..106331442,2	MCF-7	breast:
4	chr12:106315347..106318864-chr12:106319444..106323334,6	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10861533	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12370011	0.81[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs12425720	0.86[ASN][1000 genomes]
rs1421461	0.84[AFR][1000 genomes]
rs2032767	0.84[ASN][1000 genomes]
rs2032768	0.83[ASN][1000 genomes]
rs34338597	0.87[ASN][1000 genomes]
rs34439664	0.87[ASN][1000 genomes]
rs56390523	0.87[ASN][1000 genomes]
rs7132142	0.87[ASN][1000 genomes]
rs7957583	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10161316	SPIC	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106312600-106317400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:106313200-106316400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:106313400-106316600	Enhancers	Fetal Heart	heart
4	chr12:106313400-106317200	Enhancers	NHEK	skin
5	chr12:106313600-106317200	Enhancers	Fetal Muscle Leg	muscle
6	chr12:106314600-106316800	Weak transcription	Left Ventricle	heart
7	chr12:106314600-106324200	Weak transcription	Right Atrium	heart
8	chr12:106315400-106316400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:106315400-106316800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:106315400-106317000	Enhancers	Brain Anterior Caudate	brain
11	chr12:106315600-106317200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:106315600-106317200	Enhancers	HMEC	breast
13	chr12:106315600-106317400	Enhancers	A549	lung
14	chr12:106315800-106316400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:106315800-106316400	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:106315800-106316600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr12:106315800-106316600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:106315800-106316600	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:106315800-106316800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:106315800-106316800	Enhancers	Colon Smooth Muscle	Colon
21	chr12:106315800-106317000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:106315800-106317000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:106315800-106317000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:106315800-106317200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:106315800-106317200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:106315800-106317400	Enhancers	HSMM	muscle
27	chr12:106316000-106316400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:106316000-106316400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr12:106316000-106316400	Weak transcription	Psoas Muscle	Psoas
30	chr12:106316000-106316400	Weak transcription	Right Ventricle	heart
31	chr12:106316000-106316800	Weak transcription	Lung	lung
32	chr12:106316000-106317000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:106316000-106317400	Enhancers	NH-A	brain
34	chr12:106316200-106316400	Enhancers	Brain Hippocampus Middle	brain
35	chr12:106316200-106316400	Flanking Active TSS	HSMMtube	muscle
36	chr12:106316200-106316800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:106316200-106316800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:106316200-106316800	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:106316200-106317000	Enhancers	Osteobl	bone

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