Variant report

Variant	rs17150898
Chromosome Location	chr7:78119780-78119781
allele	A/C
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	MXI1	chr7:78118467-78119809	SK-N-SH	brain:	n/a	n/a
2	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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17147836	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17150878	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17369423	0.84[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55777644	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56040565	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56139883	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6950700	0.96[ASN][1000 genomes]
rs73150359	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73150374	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7780361	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7802290	0.93[AMR][1000 genomes];0.96[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

No data

Chromatin state (count:35 , 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	chr7:78118600-78119800	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:78118600-78123400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:78118800-78119800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:78118800-78120200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:78118800-78120200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:78119000-78122000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:78119200-78120400	Enhancers	Fetal Kidney	kidney
10	chr7:78119200-78121000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:78119200-78122000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:78119400-78119800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:78119400-78119800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:78119400-78120000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:78119400-78120000	Weak transcription	Fetal Brain Male	brain
16	chr7:78119400-78120800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:78119400-78121600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:78119400-78122000	Enhancers	Brain Germinal Matrix	brain
19	chr7:78119400-78122000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:78119400-78122200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:78119400-78123000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:78119400-78125200	Weak transcription	Fetal Brain Female	brain
23	chr7:78119400-78125800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:78119400-78128000	Enhancers	Brain Substantia Nigra	brain
25	chr7:78119400-78130200	Weak transcription	Aorta	Aorta
26	chr7:78119600-78119800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:78119600-78120000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:78119600-78120000	Weak transcription	Fetal Heart	heart
29	chr7:78119600-78120400	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr7:78119600-78120800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:78119600-78121600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:78119600-78122600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:78119600-78123200	Enhancers	Brain Angular Gyrus	brain
34	chr7:78119600-78124000	Enhancers	Brain Hippocampus Middle	brain
35	chr7:78119600-78145600	Weak transcription	Ovary	ovary

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