Variant report

Variant	rs12369231
Chromosome Location	chr12:104389518-104389519
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104375830..104377503-chr12:104387925..104389874,3	K562	blood:
2	chr12:104388319..104390087-chr12:104391982..104393996,2	K562	blood:
3	chr12:104388056..104390327-chr12:104394417..104397045,2	MCF-7	breast:
4	chr12:104358555..104361363-chr12:104388778..104391446,2	MCF-7	breast:
5	chr12:104359661..104361463-chr12:104388636..104390467,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139372	Chromatin interaction
ENSG00000204954	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10047614	1.00[ASN][1000 genomes]
rs1047490	1.00[CHB][hapmap]
rs10861150	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10861151	1.00[ASN][1000 genomes]
rs11111867	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11111882	1.00[CHB][hapmap]
rs1165687	1.00[CHB][hapmap]
rs12312593	1.00[CHB][hapmap]
rs12366629	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372540	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805003	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866074	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2629806	1.00[CHB][hapmap]
rs4135044	1.00[ASN][1000 genomes]
rs4135063	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4135081	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4135093	1.00[ASN][1000 genomes]
rs55684344	1.00[ASN][1000 genomes]
rs56219801	1.00[ASN][1000 genomes]
rs56369424	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539116	1.00[CHB][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132831	1.00[CHB][hapmap]
rs7136550	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7138850	1.00[ASN][1000 genomes]
rs7306515	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7313381	1.00[ASN][1000 genomes]
rs7953572	1.00[CHB][hapmap]
rs7971994	1.00[CHB][hapmap]

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12369231	C12orf73	cis	Artery Tibial	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
2	chr12:104377800-104390200	Weak transcription	Fetal Heart	heart
3	chr12:104377800-104391000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104380800-104391400	Weak transcription	Ovary	ovary
6	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
7	chr12:104380800-104400200	Weak transcription	NHLF	lung
8	chr12:104381000-104390600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:104381000-104390800	Weak transcription	K562	blood
10	chr12:104381000-104391200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:104381000-104391200	Weak transcription	Right Ventricle	heart
12	chr12:104381000-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:104381600-104392800	Weak transcription	Left Ventricle	heart
14	chr12:104383600-104389600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:104384800-104390800	Weak transcription	Fetal Lung	lung
16	chr12:104385000-104390800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:104385000-104400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:104385400-104400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:104385600-104390800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:104385800-104400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:104387000-104400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:104387400-104390400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:104387400-104391400	Weak transcription	Fetal Stomach	stomach
26	chr12:104388400-104390600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:104388400-104391200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:104388600-104390200	Weak transcription	Psoas Muscle	Psoas
29	chr12:104388600-104390800	Weak transcription	HSMMtube	muscle
30	chr12:104388600-104391000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:104388800-104400200	Weak transcription	HSMM	muscle
32	chr12:104389000-104390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:104389200-104390200	Weak transcription	Fetal Muscle Leg	muscle

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