Variant report

Variant	rs56694288
Chromosome Location	chr7:69446898-69446899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57241243	0.82[AFR][1000 genomes]
rs59534094	0.82[AFR][1000 genomes]
rs73429443	0.88[AFR][1000 genomes]
rs73429444	0.88[AFR][1000 genomes]
rs73429445	0.88[AFR][1000 genomes]
rs73429447	0.88[AFR][1000 genomes]
rs73429449	0.88[AFR][1000 genomes]
rs73429456	1.00[AFR][1000 genomes]
rs73429468	0.94[AFR][1000 genomes]
rs73432138	0.88[AFR][1000 genomes]
rs73432140	0.88[AFR][1000 genomes]
rs73432144	0.94[AFR][1000 genomes]
rs73432160	0.82[AFR][1000 genomes]
rs73432168	0.82[AFR][1000 genomes]
rs73438181	0.82[AFR][1000 genomes]
rs73438192	0.82[AFR][1000 genomes]
rs73440124	0.88[AFR][1000 genomes]
rs73440130	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69433000-69447400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:69433000-69447400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69443800-69449600	Weak transcription	Left Ventricle	heart
4	chr7:69444000-69458000	Weak transcription	Pancreas	Pancrea
5	chr7:69444200-69448400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:69444200-69448600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:69444600-69447000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:69445000-69455400	Weak transcription	Fetal Heart	heart
9	chr7:69445400-69448600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:69446000-69447200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:69446600-69447200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:69446600-69447600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:69446600-69447800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:69446600-69447800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:69446600-69447800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:69446800-69447000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:69446800-69447200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:69446800-69447400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:69446800-69447600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:69446800-69447600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:69446800-69447600	Enhancers	Brain Substantia Nigra	brain
22	chr7:69446800-69447600	Enhancers	Fetal Kidney	kidney
23	chr7:69446800-69447800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:69446800-69447800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:69446800-69447800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:69446800-69447800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:69446800-69447800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:69446800-69447800	Enhancers	NHDF-Ad	bronchial
29	chr7:69446800-69448600	Enhancers	Osteobl	bone

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