Variant report

Variant	rs28452693
Chromosome Location	chr12:105860757-105860758
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11112544	0.83[ASN][1000 genomes]
rs11112546	0.83[ASN][1000 genomes]
rs11112547	0.83[ASN][1000 genomes]
rs11112550	1.00[EUR][1000 genomes]
rs12317775	1.00[EUR][1000 genomes]
rs60274159	1.00[EUR][1000 genomes]
rs61048416	1.00[EUR][1000 genomes]
rs7298586	1.00[EUR][1000 genomes]
rs7315499	1.00[EUR][1000 genomes]
rs73383296	1.00[EUR][1000 genomes]
rs73383298	1.00[EUR][1000 genomes]
rs73383302	1.00[EUR][1000 genomes]
rs73385004	1.00[EUR][1000 genomes]
rs73385015	1.00[EUR][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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105854000-105860800	Weak transcription	Adipose Nuclei	Adipose
2	chr12:105854200-105861000	Enhancers	HSMMtube	muscle
3	chr12:105854200-105861400	Weak transcription	Right Atrium	heart
4	chr12:105854200-105863000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:105856000-105860800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105856000-105861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:105857200-105862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105857600-105861400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:105857600-105862600	Weak transcription	HSMM	muscle
10	chr12:105857600-105863000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:105858200-105864000	Weak transcription	Fetal Brain Male	brain
12	chr12:105859400-105861800	Enhancers	Aorta	Aorta
13	chr12:105859400-105862800	Enhancers	HUVEC	blood vessel
14	chr12:105859600-105864000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:105860200-105861200	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:105860400-105860800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:105860400-105861000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:105860400-105861000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:105860400-105861200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:105860400-105861400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:105860400-105861600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:105860400-105862400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:105860600-105861200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:105860600-105861400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:105860600-105861800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:105860600-105861800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr12:105860600-105861800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:105860600-105861800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:105860600-105862200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:105860600-105862400	Enhancers	Fetal Heart	heart
31	chr12:105860600-105863000	Weak transcription	NH-A	brain
32	chr12:105860600-105866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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