Variant report

Variant	rs1488591
Chromosome Location	chr3:112521519-112521520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4682429	0.81[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	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	chr3:112517800-112521800	Enhancers	NHEK	skin
2	chr3:112518400-112521600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:112518600-112521600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:112518800-112521600	Enhancers	HMEC	breast
5	chr3:112519200-112526400	Weak transcription	NHDF-Ad	bronchial
6	chr3:112520200-112522400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:112520200-112523000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr3:112520400-112522200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:112520600-112522200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr3:112520600-112522400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr3:112520600-112523200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:112520800-112523000	Enhancers	Primary T cells from cord blood	blood
13	chr3:112521000-112522400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:112521000-112529800	Weak transcription	A549	lung
15	chr3:112521200-112521600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:112521200-112521600	Enhancers	Stomach Mucosa	stomach
17	chr3:112521200-112522200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:112521400-112522200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	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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