Variant report

Variant	rs563887138
Chromosome Location	chr7:79098148-79098149
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	chr7:79097700-79098385	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr7:79098059-79098170	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79095989..79098582-chr7:79174957..79177392,2	K562	blood:

Variant related genes	Relation type
MAGI2-AS3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv428175	chr7:79096786-79253373	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79084400-79102200	Weak transcription	Left Ventricle	heart
2	chr7:79084600-79101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:79084800-79100800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:79084800-79102800	Weak transcription	HSMM	muscle
5	chr7:79085000-79098600	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:79085000-79099600	Weak transcription	Fetal Stomach	stomach
7	chr7:79086000-79099800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:79086600-79099600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:79086600-79100600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:79086600-79101000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:79086600-79101400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:79086600-79104200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:79087600-79099800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:79087800-79099800	Weak transcription	Fetal Lung	lung
15	chr7:79088000-79109600	Weak transcription	Aorta	Aorta
16	chr7:79089000-79098800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:79089000-79102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:79089200-79100200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:79089200-79109600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:79089400-79101800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:79089800-79099000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:79089800-79101800	Weak transcription	Liver	Liver
23	chr7:79090000-79101000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:79090200-79098600	Weak transcription	NHDF-Ad	bronchial
25	chr7:79091800-79101200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:79092000-79101800	Weak transcription	HUVEC	blood vessel
27	chr7:79092000-79103000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:79092200-79102200	Weak transcription	Ovary	ovary
29	chr7:79094200-79099800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:79094200-79099800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:79094400-79099800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:79096800-79101200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:79097400-79100400	Strong transcription	Osteobl	bone
34	chr7:79097800-79098400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:79097800-79098400	Strong transcription	NHLF	lung
36	chr7:79097800-79098600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:79097800-79100800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:79098000-79098200	Enhancers	Spleen	Spleen
39	chr7:79098000-79098400	Enhancers	Brain Hippocampus Middle	brain
40	chr7:79098000-79098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:79098000-79099800	Weak transcription	Brain Cingulate Gyrus	brain

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