Variant report

Variant	rs10268479
Chromosome Location	chr7:78122616-78122617
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	POLR2A	chr7:78122555-78122939	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr7:78122567-78122968	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
MAGI2	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10234486	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10241051	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10249629	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1030014	0.85[MEX][hapmap]
rs1075007	0.82[EUR][1000 genomes]
rs11983701	0.81[ASN][1000 genomes]
rs13244349	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61541276	1.00[ASN][1000 genomes]
rs6947977	0.83[CHD][hapmap];0.85[MEX][hapmap]
rs7804616	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.85[MKK][hapmap];1.00[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	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:28 , 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	chr7:78119400-78123000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:78119400-78125200	Weak transcription	Fetal Brain Female	brain
6	chr7:78119400-78125800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:78119400-78128000	Enhancers	Brain Substantia Nigra	brain
8	chr7:78119400-78130200	Weak transcription	Aorta	Aorta
9	chr7:78119600-78123200	Enhancers	Brain Angular Gyrus	brain
10	chr7:78119600-78124000	Enhancers	Brain Hippocampus Middle	brain
11	chr7:78119600-78145600	Weak transcription	Ovary	ovary
12	chr7:78119800-78128400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:78119800-78132400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:78120200-78123600	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:78120800-78125000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr7:78121800-78123200	Enhancers	Fetal Heart	heart
17	chr7:78121800-78125800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:78122000-78127400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:78122000-78130400	Weak transcription	Brain Germinal Matrix	brain
20	chr7:78122200-78125600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:78122400-78123000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:78122400-78125800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:78122600-78122800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:78122600-78123000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr7:78122600-78123000	Enhancers	Psoas Muscle	Psoas
26	chr7:78122600-78124000	Enhancers	Fetal Kidney	kidney
27	chr7:78122600-78125600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:78122600-78143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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