Variant report

Variant	rs1595353
Chromosome Location	chr18:28636966-28636967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1595351	1.00[AMR][1000 genomes]
rs1595352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961129	1.00[AMR][1000 genomes]
rs16961139	1.00[AFR][1000 genomes]
rs16961141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961142	1.00[AFR][1000 genomes]
rs16961152	1.00[AMR][1000 genomes]
rs16961161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961169	1.00[AFR][1000 genomes]
rs1866102	1.00[AFR][1000 genomes]
rs1866103	1.00[AFR][1000 genomes]
rs1893964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7505812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8087628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8088208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8088497	1.00[AFR][1000 genomes]
rs8089107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8089246	1.00[AMR][1000 genomes]
rs8089351	1.00[AFR][1000 genomes];1.00[AMR][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	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526587	chr18:28629839-28639548	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv2244	chr18:28635554-28666380	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28631200-28640400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28634400-28641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:28635600-28637000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:28635800-28637200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr18:28635800-28637800	Enhancers	NHEK	skin
6	chr18:28636000-28637000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr18:28636000-28637000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:28636000-28637000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr18:28636000-28637400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr18:28636200-28637200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr18:28636200-28637400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:28636400-28645000	Weak transcription	Fetal Intestine Large	intestine
13	chr18:28636600-28640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:28636600-28644800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:28636600-28645200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:28636800-28637200	Weak transcription	Fetal Lung	lung
17	chr18:28636800-28641800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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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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