Variant report

Variant	rs10258595
Chromosome Location	chr7:79086534-79086535
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	chr7:79086385-79086771	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
MAGI2-AS3	TF binding region
MAGI2	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10226316	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10231884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10233817	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10238639	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10239130	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10251407	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10255409	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808188	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12706177	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2214804	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2365421	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2886360	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4730832	0.92[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4730835	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4730857	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4730874	0.92[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4730878	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4730892	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6466663	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6466670	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6974444	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7777453	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7801286	0.89[EUR][1000 genomes]
rs7802400	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7808033	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7810711	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7810716	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7812062	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv970902	chr7:79046674-79175610	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv888516	chr7:79086317-79221707	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79084200-79091200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:79084400-79088200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:79084400-79089000	Weak transcription	NH-A	brain
4	chr7:79084400-79095000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:79084400-79102200	Weak transcription	Left Ventricle	heart
6	chr7:79084600-79101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:79084800-79086600	Enhancers	Brain Cingulate Gyrus	brain
8	chr7:79084800-79087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:79084800-79087600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:79084800-79091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:79084800-79100800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:79084800-79102800	Weak transcription	HSMM	muscle
13	chr7:79085000-79086600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:79085000-79086600	Enhancers	Brain Angular Gyrus	brain
15	chr7:79085000-79086600	Enhancers	Brain Anterior Caudate	brain
16	chr7:79085000-79086600	Enhancers	Brain Hippocampus Middle	brain
17	chr7:79085000-79086600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:79085000-79087000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:79085000-79087400	Weak transcription	HSMMtube	muscle
20	chr7:79085000-79087800	Weak transcription	Right Ventricle	heart
21	chr7:79085000-79087800	Enhancers	HepG2	liver
22	chr7:79085000-79088800	Weak transcription	Fetal Brain Female	brain
23	chr7:79085000-79089000	Weak transcription	Fetal Heart	heart
24	chr7:79085000-79090400	Weak transcription	Lung	lung
25	chr7:79085000-79098600	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:79085000-79099600	Weak transcription	Fetal Stomach	stomach
27	chr7:79085200-79088000	Genic enhancers	Osteobl	bone
28	chr7:79085200-79089000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:79085200-79091800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:79085400-79086600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr7:79085400-79087600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:79085400-79088000	Genic enhancers	Ovary	ovary
33	chr7:79085600-79086600	Genic enhancers	Colon Smooth Muscle	Colon
34	chr7:79085600-79088200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:79085800-79086600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:79085800-79087400	Weak transcription	Aorta	Aorta
37	chr7:79085800-79087400	Weak transcription	Fetal Lung	lung
38	chr7:79085800-79087400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:79085800-79087600	Weak transcription	NHDF-Ad	bronchial
40	chr7:79085800-79088000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:79085800-79088200	Enhancers	Adipose Nuclei	Adipose
42	chr7:79085800-79089000	Weak transcription	Liver	Liver
43	chr7:79085800-79089800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:79085800-79090800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:79085800-79095400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:79085800-79098000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:79086000-79086600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:79086000-79087400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:79086000-79087400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:79086000-79089400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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