Variant report

Variant	rs7312697
Chromosome Location	chr12:29933069-29933070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10843506	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843507	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs186216	0.82[ASN][1000 genomes]
rs302315	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs302317	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs302321	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34924103	0.80[ASN][1000 genomes]
rs436124	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs439639	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs654825	0.81[ASN][1000 genomes]
rs672107	0.80[ASN][1000 genomes]
rs721617	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7312697	TMTC1	cis	Whole Blood	GTEx
rs7312697	TMTC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29921600-29934000	Weak transcription	Fetal Kidney	kidney
2	chr12:29922600-29934000	Weak transcription	NHLF	lung
3	chr12:29922800-29933800	Weak transcription	Hela-S3	cervix
4	chr12:29925400-29934000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:29925600-29934200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:29928800-29934800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:29929400-29933200	Weak transcription	HMEC	breast
8	chr12:29929800-29933800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:29930000-29934200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:29930000-29934200	Weak transcription	HSMM	muscle
11	chr12:29930800-29933600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:29930800-29934400	Weak transcription	HSMMtube	muscle
13	chr12:29931400-29934000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:29931600-29933600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:29932000-29933200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:29932000-29934400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:29932000-29934800	Weak transcription	Liver	Liver
18	chr12:29932200-29933400	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:29932200-29934200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:29932200-29934200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:29932200-29934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:29932400-29933800	Weak transcription	Adipose Nuclei	Adipose
23	chr12:29932400-29934000	Weak transcription	Right Atrium	heart
24	chr12:29932400-29934000	Weak transcription	Right Ventricle	heart
25	chr12:29932400-29934000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:29932400-29934200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:29932400-29934200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:29932400-29934200	Weak transcription	Left Ventricle	heart
29	chr12:29932400-29934800	Weak transcription	Ovary	ovary
30	chr12:29932400-29935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:29932400-29935200	Weak transcription	Spleen	Spleen
32	chr12:29932600-29933200	Weak transcription	Fetal Heart	heart
33	chr12:29932800-29933400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr12:29932800-29933600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr12:29932800-29933800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:29932800-29935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:29933000-29933200	Enhancers	Psoas Muscle	Psoas
38	chr12:29933000-29933600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr12:29933000-29934000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:29933000-29937800	Active TSS	Aorta	Aorta

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