Variant report

Variant	rs2199911
Chromosome Location	chr4:79892988-79892989
allele	A/G
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:9)

rs_ID	r²[population]
rs55701127	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55751042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55887993	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55939915	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57739531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61503049	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72862599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	diseases
2	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79892000-79894400	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr4:79892200-79893200	Enhancers	Adipose Nuclei	Adipose
3	chr4:79892400-79893200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:79892400-79894400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:79892400-79894600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:79892400-79894800	Active TSS	Aorta	Aorta
7	chr4:79892600-79893200	Enhancers	Colon Smooth Muscle	Colon
8	chr4:79892600-79894600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:79892800-79893200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:79892800-79893200	Enhancers	Fetal Muscle Leg	muscle
11	chr4:79892800-79893200	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:79892800-79893200	Enhancers	Right Atrium	heart
13	chr4:79892800-79893200	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:79892800-79894000	Enhancers	Primary hematopoietic stem cells	blood
15	chr4:79892800-79894400	Active TSS	Brain Anterior Caudate	brain
16	chr4:79892800-79894400	Active TSS	Brain Hippocampus Middle	brain
17	chr4:79892800-79895800	Active TSS	Brain Substantia Nigra	brain
18	chr4:79892800-79896200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

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

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