Variant report

Variant	rs66665814
Chromosome Location	chr7:69856738-69856739
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10486877	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950200	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762022	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488414	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17488553	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17565895	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17566440	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55981021	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59045886	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66467375	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66959934	1.00[ASN][1000 genomes]
rs66973794	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68173070	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73173570	1.00[ASN][1000 genomes]
rs73173593	1.00[ASN][1000 genomes]
rs73175905	1.00[ASN][1000 genomes]
rs73175912	1.00[ASN][1000 genomes]
rs73175925	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73175934	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]

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	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
2	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
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1028870	chr7:69742438-69879231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69845600-69856800	Weak transcription	Right Atrium	heart
2	chr7:69849400-69857000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:69849400-69857600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:69850000-69871400	Weak transcription	Fetal Stomach	stomach
5	chr7:69851600-69859200	Enhancers	Fetal Brain Male	brain
6	chr7:69852600-69857000	Weak transcription	Right Ventricle	heart
7	chr7:69854600-69858200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:69855200-69857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:69855200-69857600	Enhancers	Fetal Brain Female	brain
10	chr7:69855400-69857600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:69855600-69857000	Weak transcription	NH-A	brain
12	chr7:69855800-69856800	Weak transcription	Aorta	Aorta
13	chr7:69855800-69856800	Weak transcription	NHDF-Ad	bronchial
14	chr7:69855800-69857000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:69856000-69857000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:69856000-69859000	Enhancers	Ovary	ovary
17	chr7:69856000-69859400	Enhancers	Fetal Heart	heart
18	chr7:69856400-69857000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:69856400-69857400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:69856600-69857200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:69856600-69857400	Enhancers	Left Ventricle	heart

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