Variant report

Variant	rs73192200
Chromosome Location	chr12:106387875-106387876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10861537	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861538	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10861542	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10861543	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11112831	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112834	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12297444	0.94[EUR][1000 genomes]
rs12308728	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12367009	0.91[EUR][1000 genomes]
rs67983238	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	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
2	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106382200-106392200	Weak transcription	Fetal Brain Male	brain
2	chr12:106385400-106388000	Weak transcription	Psoas Muscle	Psoas
3	chr12:106386200-106388200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:106386200-106388600	Genic enhancers	HSMMtube	muscle
5	chr12:106386400-106388000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr12:106386400-106388000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:106386600-106388200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr12:106386800-106389800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:106387000-106388800	Enhancers	NH-A	brain
10	chr12:106387200-106391600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:106387400-106388400	Bivalent Enhancer	Fetal Stomach	stomach
12	chr12:106387400-106390000	Enhancers	Brain Hippocampus Middle	brain
13	chr12:106387400-106391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:106387600-106388200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:106387600-106388400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr12:106387600-106389400	Weak transcription	HSMM	muscle
17	chr12:106387600-106389600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:106387800-106388200	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:106387800-106389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:106387800-106389200	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:106387800-106389600	Weak transcription	Gastric	stomach

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