Variant report

Variant	rs61467455
Chromosome Location	chr12:85429632-85429633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:85429562-85430695	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr12:85429536-85430989	SK-N-SH	brain:	n/a	chr12:85430110-85430125 chr12:85430108-85430123
3	NFYB	chr12:85429598-85430512	GM12878	blood:	n/a	chr12:85430099-85430114 chr12:85430097-85430112 chr12:85430100-85430110 chr12:85430097-85430112 chr12:85430098-85430112

Variant related genes	Relation type
LRRIQ1	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73379726	1.00[AFR][1000 genomes]
rs73379735	1.00[AFR][1000 genomes]
rs7966963	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899377	chr12:85157346-85629241	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv510605	chr12:85426534-85432900	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
5	esv1798653	chr12:85427691-85434384	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
6	nsv899387	chr12:85427691-85629241	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv455669	chr12:85427691-85638089	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv559653	chr12:85427691-85638089	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv899388	chr12:85427691-85766847	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85429400-85430600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:85429600-85429800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:85429600-85429800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:85429600-85429800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:85429600-85429800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:85429600-85429800	Flanking Active TSS	Fetal Brain Male	brain
7	chr12:85429600-85429800	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:85429600-85430000	Active TSS	Right Atrium	heart
9	chr12:85429600-85430000	Enhancers	Stomach Mucosa	stomach
10	chr12:85429600-85430600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr12:85429600-85430600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:85429600-85430600	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:85429600-85430600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:85429600-85430600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:85429600-85430600	Active TSS	Brain Anterior Caudate	brain
16	chr12:85429600-85430600	Active TSS	Fetal Brain Female	brain
17	chr12:85429600-85430600	Active TSS	Fetal Kidney	kidney
18	chr12:85429600-85430600	Active TSS	Hela-S3	cervix
19	chr12:85429600-85430600	Active TSS	NH-A	brain
20	chr12:85429600-85430600	Active TSS	NHDF-Ad	bronchial
21	chr12:85429600-85430800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:85429600-85430800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:85429600-85430800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:85429600-85430800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:85429600-85430800	Active TSS	Brain Angular Gyrus	brain
26	chr12:85429600-85430800	Active TSS	Brain Cingulate Gyrus	brain
27	chr12:85429600-85430800	Active TSS	Brain Hippocampus Middle	brain
28	chr12:85429600-85430800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:85429600-85430800	Active TSS	Brain Substantia Nigra	brain
30	chr12:85429600-85430800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:85429600-85430800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr12:85429600-85430800	Active TSS	Stomach Smooth Muscle	stomach
33	chr12:85429600-85430800	Active TSS	A549	lung
34	chr12:85429600-85430800	Active TSS	HMEC	breast
35	chr12:85429600-85431000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:85429600-85431000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:85429600-85431000	Active TSS	HUES64 Cell Line	embryonic stem cell

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