Variant report

Variant	rs17163754
Chromosome Location	chr1:223427044-223427045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs712859	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73122211	1.00[EUR][1000 genomes]
rs73122214	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73122215	1.00[EUR][1000 genomes]
rs851195	1.00[EUR][1000 genomes]
rs851197	1.00[EUR][1000 genomes]
rs851198	1.00[EUR][1000 genomes]
rs851200	1.00[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223423400-223427200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:223423800-223439600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:223424000-223427400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:223424200-223429000	Weak transcription	Stomach Mucosa	stomach
5	chr1:223424200-223429200	Weak transcription	HMEC	breast
6	chr1:223424200-223438800	Weak transcription	Ovary	ovary
7	chr1:223424400-223428800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:223424400-223429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:223424400-223429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:223424400-223431800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:223424600-223429000	Weak transcription	NHEK	skin
12	chr1:223425400-223429200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:223426000-223429000	Weak transcription	Esophagus	oesophagus
14	chr1:223426200-223427600	Enhancers	Primary T cells from cord blood	blood
15	chr1:223426800-223427400	Enhancers	Fetal Intestine Large	intestine

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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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