Variant report

Variant	rs16961970
Chromosome Location	chr17:63273384-63273385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011900	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1514502	0.82[ASN][1000 genomes]
rs16961965	0.92[ASN][1000 genomes]
rs16961972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961974	0.96[ASN][1000 genomes]
rs16961976	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2191396	0.83[ASN][1000 genomes]
rs2869590	0.83[ASN][1000 genomes]
rs4790951	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4791204	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4791205	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4791207	0.99[ASN][1000 genomes]
rs4791208	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4791209	0.82[ASN][1000 genomes]
rs4791210	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55940010	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55972864	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56179900	0.82[AMR][1000 genomes]
rs56295410	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs57124114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72845338	0.82[ASN][1000 genomes]
rs72845352	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72845354	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72845372	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72853508	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs740857	0.84[ASN][1000 genomes]
rs8070105	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs875647	0.83[ASN][1000 genomes]
rs9904971	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv482610	chr17:63214370-63372334	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63267400-63273400	Weak transcription	Fetal Thymus	thymus
2	chr17:63267400-63274600	Weak transcription	Fetal Brain Female	brain
3	chr17:63267800-63273600	Weak transcription	Placenta	Placenta
4	chr17:63267800-63273800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr17:63272600-63273400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:63273000-63273400	Enhancers	Stomach Smooth Muscle	stomach
7	chr17:63273000-63273600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:63273000-63273800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:63273000-63274400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:63273000-63274400	Enhancers	Colon Smooth Muscle	Colon
11	chr17:63273000-63274800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr17:63273000-63275200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:63273000-63276000	Enhancers	Fetal Brain Male	brain
14	chr17:63273200-63273400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:63273200-63273600	Enhancers	HSMMtube	muscle
16	chr17:63273200-63273800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:63273200-63273800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:63273200-63274200	Enhancers	Aorta	Aorta
19	chr17:63273200-63274400	Enhancers	Fetal Stomach	stomach
20	chr17:63273200-63274800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr17:63273200-63275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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