Variant report

Variant	rs75142967
Chromosome Location	chr12:85430711-85430712
allele	A/G
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	REST	chr12:85429665-85430796	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr12:85430669-85430788	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:85430645-85430865	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:85430694-85430746	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr12:85429536-85430989	SK-N-SH	brain:	n/a	chr12:85430110-85430125 chr12:85430108-85430123

Variant related genes	Relation type
TSPAN19	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv899389	chr12:85430187-85499132	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85429600-85430800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:85429600-85430800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:85429600-85430800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:85429600-85430800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:85429600-85430800	Active TSS	Brain Angular Gyrus	brain
6	chr12:85429600-85430800	Active TSS	Brain Cingulate Gyrus	brain
7	chr12:85429600-85430800	Active TSS	Brain Hippocampus Middle	brain
8	chr12:85429600-85430800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:85429600-85430800	Active TSS	Brain Substantia Nigra	brain
10	chr12:85429600-85430800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:85429600-85430800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:85429600-85430800	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:85429600-85430800	Active TSS	A549	lung
14	chr12:85429600-85430800	Active TSS	HMEC	breast
15	chr12:85429600-85431000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:85429600-85431000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:85429600-85431000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:85429800-85430800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr12:85429800-85430800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:85429800-85430800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:85429800-85430800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:85429800-85430800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:85429800-85430800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:85429800-85430800	Active TSS	Brain Germinal Matrix	brain
25	chr12:85429800-85430800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:85430000-85430800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr12:85430000-85430800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:85430000-85430800	Bivalent/Poised TSS	Fetal Lung	lung
29	chr12:85430000-85430800	Enhancers	Ovary	ovary
30	chr12:85430000-85430800	Active TSS	Right Ventricle	heart
31	chr12:85430200-85430800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr12:85430200-85430800	Flanking Active TSS	HUVEC	blood vessel
33	chr12:85430200-85431000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:85430400-85430800	Enhancers	Gastric	stomach
35	chr12:85430400-85430800	Active TSS	Right Atrium	heart
36	chr12:85430600-85430800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:85430600-85430800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:85430600-85430800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:85430600-85430800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:85430600-85430800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:85430600-85430800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:85430600-85430800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:85430600-85430800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr12:85430600-85430800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:85430600-85430800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:85430600-85430800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:85430600-85430800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:85430600-85430800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:85430600-85430800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr12:85430600-85430800	Flanking Active TSS	Colon Smooth Muscle	Colon

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