Variant report

Variant	rs73089160
Chromosome Location	chr12:30250741-30250742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16935409	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73086916	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73086930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089165	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089167	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7973364	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30249800-30252400	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:30250000-30250800	Enhancers	Stomach Smooth Muscle	stomach
3	chr12:30250200-30250800	Enhancers	Fetal Kidney	kidney
4	chr12:30250200-30252600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:30250200-30253200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:30250400-30250800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:30250400-30250800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:30250400-30250800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:30250400-30250800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:30250400-30251400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:30250400-30251600	Enhancers	Fetal Lung	lung
12	chr12:30250400-30251800	Enhancers	Fetal Brain Female	brain
13	chr12:30250400-30252000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:30250400-30252000	Enhancers	Fetal Stomach	stomach
15	chr12:30250400-30252400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:30250400-30252600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:30250400-30252600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:30250600-30250800	Flanking Active TSS	Fetal Brain Male	brain
19	chr12:30250600-30251200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:30250600-30252200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:30250600-30252400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:30250600-30252600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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