Variant report

Variant	rs73116767
Chromosome Location	chr1:222035833-222035834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73110894	1.00[AFR][1000 genomes]
rs73112626	1.00[AFR][1000 genomes]
rs73112655	1.00[AFR][1000 genomes]
rs73112668	1.00[AFR][1000 genomes]
rs73112688	1.00[AFR][1000 genomes]
rs73114716	1.00[AFR][1000 genomes]
rs73116752	1.00[AFR][1000 genomes]
rs73116759	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222019800-222047600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:222032400-222036600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:222032600-222038600	Weak transcription	HSMM	muscle
4	chr1:222032800-222038000	Weak transcription	NHDF-Ad	bronchial
5	chr1:222032800-222041600	Weak transcription	NHEK	skin
6	chr1:222032800-222041800	Weak transcription	Osteobl	bone
7	chr1:222033000-222038000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:222033000-222038000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:222033200-222038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:222033200-222041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:222033400-222039200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:222035200-222036000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:222035200-222037400	Enhancers	Psoas Muscle	Psoas
14	chr1:222035600-222037400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:222035800-222037200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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