Variant report

Variant	rs16988643
Chromosome Location	chr22:30842419-30842420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12169153	1.00[CEU][hapmap]
rs16988708	0.87[YRI][hapmap]
rs5997599	1.00[CEU][hapmap]
rs6006417	1.00[CEU][hapmap]
rs7286107	1.00[CEU][hapmap]
rs8137501	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
2	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
3	chr22:30840400-30842600	Enhancers	Ovary	ovary
4	chr22:30840600-30843000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:30841000-30842600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:30841000-30842600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:30841000-30842600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr22:30841000-30842600	Enhancers	Liver	Liver
9	chr22:30841200-30842600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30841800-30843600	Weak transcription	K562	blood
11	chr22:30841800-30846600	Weak transcription	Fetal Intestine Large	intestine
12	chr22:30841800-30850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:30842000-30842600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:30842000-30844000	Weak transcription	HepG2	liver
15	chr22:30842000-30847400	Weak transcription	Hela-S3	cervix
16	chr22:30842200-30842600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:30842400-30842600	Enhancers	Esophagus	oesophagus
18	chr22:30842400-30843800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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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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