Variant report

Variant	rs66642060
Chromosome Location	chr7:28031016-28031017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10951189	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12537454	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537684	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12671110	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12671522	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35846584	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs38516	0.82[ASN][1000 genomes]
rs38517	0.81[ASN][1000 genomes]
rs4308621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4357200	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4365989	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4422694	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4492256	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57551874	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59599535	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs67479305	0.95[ASN][1000 genomes]
rs6965213	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73089188	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73089199	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73301367	0.89[EUR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:28006400-28031800	Weak transcription	NHDF-Ad	bronchial
3	chr7:28013400-28034200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:28015600-28032400	Weak transcription	Ovary	ovary
5	chr7:28017600-28042400	Weak transcription	Aorta	Aorta
6	chr7:28020000-28032400	Weak transcription	Primary B cells from cord blood	blood
7	chr7:28022400-28036200	Weak transcription	Lung	lung
8	chr7:28026400-28032200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:28027200-28045800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:28027800-28039400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:28028200-28032800	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:28028400-28031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:28028600-28033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:28029200-28031600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:28029400-28034400	Weak transcription	Osteobl	bone
16	chr7:28030400-28031200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:28030400-28033000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:28030600-28033400	Enhancers	Colon Smooth Muscle	Colon
19	chr7:28030600-28038600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:28030800-28031200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:28030800-28032600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:28030800-28033600	Enhancers	Brain Anterior Caudate	brain
23	chr7:28031000-28033000	Enhancers	Liver	Liver
24	chr7:28031000-28034200	Weak transcription	NH-A	brain
25	chr7:28031000-28044800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr7:28031000-28044800	Weak transcription	Monocytes-CD14+_RO01746	blood

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