Variant report

Variant	rs10850953
Chromosome Location	chr12:118506607-118506608
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118497611..118502023-chr12:118502151..118506801,7	MCF-7	breast:
2	chr12:118503851..118505896-chr12:118506182..118508939,2	MCF-7	breast:
3	chr12:118504697..118507371-chr12:118539472..118541470,2	MCF-7	breast:
4	chr12:118492843..118495653-chr12:118505555..118507815,2	MCF-7	breast:
5	chr12:118505048..118507205-chr12:118509045..118511843,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3087752	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135218	0.95[ASN][1000 genomes]
rs7304233	0.85[CEU][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8239	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.83[EUR][1000 genomes];0.93[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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10850953	FBXO21	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500400-118507800	Weak transcription	Lung	lung
2	chr12:118500400-118515400	Weak transcription	Gastric	stomach
3	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
4	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:118500800-118511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:118500800-118515400	Weak transcription	Esophagus	oesophagus
7	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
8	chr12:118500800-118526400	Weak transcription	HMEC	breast
9	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
11	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:118501000-118508600	Weak transcription	NHDF-Ad	bronchial
13	chr12:118501000-118514400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:118501000-118515000	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:118501000-118515200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:118501000-118515400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:118501000-118515400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:118501000-118516400	Weak transcription	Colonic Mucosa	Colon
19	chr12:118501000-118517200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
21	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
23	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
25	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
26	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:118501000-118540800	Weak transcription	NH-A	brain
28	chr12:118501200-118508400	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:118501200-118510400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:118501200-118511200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:118501200-118511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:118501200-118514400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:118501200-118515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:118501200-118516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:118501200-118526400	Weak transcription	Small Intestine	intestine
36	chr12:118501200-118536000	Weak transcription	Right Atrium	heart
37	chr12:118501200-118540400	Weak transcription	Brain Germinal Matrix	brain
38	chr12:118501200-118540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:118501200-118541000	Weak transcription	Aorta	Aorta
40	chr12:118501400-118510400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:118501600-118519800	Weak transcription	Fetal Brain Male	brain
42	chr12:118501600-118540400	Weak transcription	NHLF	lung
43	chr12:118501800-118507800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:118501800-118511400	Weak transcription	Pancreas	Pancrea
45	chr12:118501800-118511800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:118501800-118527000	Weak transcription	NHEK	skin
47	chr12:118501800-118533200	Weak transcription	Hela-S3	cervix
48	chr12:118502000-118507600	Weak transcription	A549	lung
49	chr12:118502000-118515400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:118502000-118515600	Weak transcription	Colon Smooth Muscle	Colon

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