Variant report

Variant	rs11738831
Chromosome Location	chr5:127200642-127200643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10491252	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17164608	0.90[AMR][1000 genomes];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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr5:127188400-127203600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:127192600-127203200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:127194200-127213800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:127195800-127202800	Weak transcription	Stomach Mucosa	stomach
5	chr5:127196800-127203000	Weak transcription	Fetal Lung	lung
6	chr5:127198200-127202000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:127198200-127203000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:127198200-127206600	Weak transcription	NHEK	skin
9	chr5:127198400-127203000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:127198400-127211600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:127199000-127201600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:127199000-127201800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:127199400-127206600	Weak transcription	Aorta	Aorta
14	chr5:127200200-127201000	Weak transcription	Fetal Intestine Large	intestine
15	chr5:127200200-127201200	Enhancers	HUVEC	blood vessel
16	chr5:127200400-127200800	Weak transcription	Fetal Intestine Small	intestine
17	chr5:127200600-127201000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:127200600-127206600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	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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