Variant report

Variant	rs2087479
Chromosome Location	chr12:124616113-124616114
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11057457	0.81[ASN][1000 genomes]
rs2101531	0.92[ASN][1000 genomes]
rs34188913	0.83[ASN][1000 genomes]
rs395845	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4765062	0.83[ASN][1000 genomes]
rs4765285	0.83[ASN][1000 genomes]
rs4765294	0.83[ASN][1000 genomes]
rs902170	0.82[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	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
2	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2087479	HNF1A	cis	cerebellum	SCAN
rs2087479	EIF2B1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124613200-124617600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:124613800-124617400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:124614000-124619600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:124614800-124616200	Enhancers	Stomach Mucosa	stomach
5	chr12:124615000-124616200	Enhancers	Liver	Liver
6	chr12:124615000-124616600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:124615000-124616600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:124615000-124617600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:124615200-124616200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:124615200-124616200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:124615200-124616200	Enhancers	Fetal Intestine Large	intestine
12	chr12:124615200-124616400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:124615200-124616400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:124615200-124616400	Enhancers	Fetal Kidney	kidney
15	chr12:124615200-124616800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:124615200-124616800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:124615200-124617600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:124615200-124617800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:124615400-124616200	Flanking Active TSS	HepG2	liver
20	chr12:124615400-124617400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:124615600-124616200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:124615600-124616400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:124615800-124616200	Enhancers	GM12878-XiMat	blood
24	chr12:124615800-124616400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:124616000-124616200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:124616000-124616200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:124616000-124616800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:124616000-124616800	Enhancers	A549	lung

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