Variant report

Variant	rs56756450
Chromosome Location	chr12:124557844-124557845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs60339834	0.98[AFR][1000 genomes]
rs7311310	0.94[AFR][1000 genomes]
rs7313030	0.88[AFR][1000 genomes]
rs73411508	0.96[AFR][1000 genomes]
rs7966097	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:124553800-124563200	Weak transcription	Stomach Mucosa	stomach
2	chr12:124554800-124560400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:124555200-124558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:124555400-124558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:124555400-124558800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:124555400-124558800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:124555400-124558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:124555600-124558800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:124555800-124558600	Enhancers	Fetal Stomach	stomach
10	chr12:124555800-124558800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:124555800-124558800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:124556000-124558800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:124556000-124558800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:124556400-124558600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:124556800-124559400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:124556800-124559600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:124556800-124560800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:124557000-124558000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:124557000-124558600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:124557200-124558200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:124557200-124558800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:124557600-124558000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:124557600-124558200	Enhancers	Fetal Thymus	thymus
24	chr12:124557600-124558400	Enhancers	Fetal Lung	lung
25	chr12:124557600-124558600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:124557600-124558800	Enhancers	Placenta	Placenta
27	chr12:124557600-124562200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:124557800-124558200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:124557800-124558200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:124557800-124558800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:124557800-124558800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:124557800-124559400	Enhancers	Placenta Amnion	Placenta Amnion

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