Variant report

Variant	rs7782195
Chromosome Location	chr7:78119931-78119932
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	EP300	chr7:78117958-78120274	SK-N-SH	brain:	n/a	chr7:78119438-78119447 chr7:78120096-78120106

Variant related genes	Relation type
MAGI2	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2052244	0.86[EUR][1000 genomes]
rs4730342	0.81[TSI][hapmap];0.80[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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7782195	PTPN12	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78114800-78127800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:78116600-78125600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:78118600-78123400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:78118800-78120200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:78118800-78120200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:78119000-78122000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:78119200-78120400	Enhancers	Fetal Kidney	kidney
8	chr7:78119200-78121000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:78119200-78122000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:78119400-78120000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:78119400-78120000	Weak transcription	Fetal Brain Male	brain
12	chr7:78119400-78120800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:78119400-78121600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:78119400-78122000	Enhancers	Brain Germinal Matrix	brain
15	chr7:78119400-78122000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:78119400-78122200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:78119400-78123000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:78119400-78125200	Weak transcription	Fetal Brain Female	brain
19	chr7:78119400-78125800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:78119400-78128000	Enhancers	Brain Substantia Nigra	brain
21	chr7:78119400-78130200	Weak transcription	Aorta	Aorta
22	chr7:78119600-78120000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:78119600-78120000	Weak transcription	Fetal Heart	heart
24	chr7:78119600-78120400	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr7:78119600-78120800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:78119600-78121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:78119600-78122600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:78119600-78123200	Enhancers	Brain Angular Gyrus	brain
29	chr7:78119600-78124000	Enhancers	Brain Hippocampus Middle	brain
30	chr7:78119600-78145600	Weak transcription	Ovary	ovary
31	chr7:78119800-78120000	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:78119800-78120400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:78119800-78128400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:78119800-78132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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