Variant report

Variant	rs2292289
Chromosome Location	chr17:19318460-19318461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2289666	1.00[EUR][1000 genomes]

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	nsv1064651	chr17:19142280-19349054	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1057927	chr17:19152728-19431280	Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv543252	chr17:19152728-19431280	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
4	esv1828682	chr17:19168912-19358443	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	73 gene(s)	inside rSNPs	diseases
5	nsv482384	chr17:19192964-19354971	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19314400-19318800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:19314400-19319800	Weak transcription	Gastric	stomach
3	chr17:19314600-19320800	Weak transcription	Fetal Thymus	thymus
4	chr17:19314800-19319000	Enhancers	Fetal Brain Male	brain
5	chr17:19315200-19320400	Weak transcription	Esophagus	oesophagus
6	chr17:19315400-19319400	Weak transcription	Lung	lung
7	chr17:19315400-19320200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:19315600-19319600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:19315600-19320800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr17:19315600-19329600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:19315800-19320000	Genic enhancers	Fetal Stomach	stomach
12	chr17:19316400-19320800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr17:19316400-19321400	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:19317000-19319200	Genic enhancers	Fetal Brain Female	brain
15	chr17:19317000-19320400	Strong transcription	Brain Germinal Matrix	brain
16	chr17:19317000-19320400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:19317200-19328000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:19318000-19321200	Weak transcription	Fetal Muscle Leg	muscle
19	chr17:19318000-19333600	Weak transcription	Brain Anterior Caudate	brain
20	chr17:19318200-19318600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr17:19318200-19319000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:19318200-19326200	Weak transcription	Brain Angular Gyrus	brain
23	chr17:19318400-19318600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:19318400-19318600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr17:19318400-19318600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr17:19318400-19318800	Strong transcription	Fetal Intestine Small	intestine
27	chr17:19318400-19319000	Strong transcription	Spleen	Spleen

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