Variant report

Variant	rs8003699
Chromosome Location	chr14:21322586-21322587
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11628228	1.00[ASN][1000 genomes]
rs17792439	0.97[EUR][1000 genomes]
rs56139183	1.00[ASN][1000 genomes]
rs61119481	1.00[ASN][1000 genomes]
rs73586030	0.95[EUR][1000 genomes]
rs983670	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
7	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr14:21317200-21323800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:21317200-21325800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:21317400-21326000	Weak transcription	Fetal Intestine Small	intestine
4	chr14:21317800-21323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:21317800-21323600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr14:21317800-21325800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:21318000-21323600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:21318000-21323600	Weak transcription	Brain Angular Gyrus	brain
9	chr14:21318000-21323600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:21318000-21325600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:21318400-21323400	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:21321600-21323200	Weak transcription	A549	lung
13	chr14:21322200-21323600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:21322200-21323800	Weak transcription	Fetal Intestine Large	intestine
15	chr14:21322200-21323800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:21322400-21323600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:21322400-21323600	Weak transcription	Brain Substantia Nigra	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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