Variant report

Variant	rs4871533
Chromosome Location	chr8:125761998-125761999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10086288	0.96[ASN][1000 genomes]
rs10091760	0.88[ASN][1000 genomes]
rs10107264	0.97[ASN][1000 genomes]
rs11986446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891435	chr8:125747374-125764361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871533	KLHL38	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125756000-125763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:125756000-125763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125756000-125763800	Weak transcription	Osteobl	bone
4	chr8:125759800-125764800	Enhancers	Fetal Heart	heart
5	chr8:125760400-125764600	Enhancers	K562	blood
6	chr8:125760800-125762800	Weak transcription	Primary B cells from cord blood	blood
7	chr8:125761000-125762000	Enhancers	Stomach Mucosa	stomach
8	chr8:125761200-125763600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:125761400-125762000	Enhancers	Right Atrium	heart
10	chr8:125761400-125763200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:125761400-125763800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:125761400-125766200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:125761600-125762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:125761800-125762800	Weak transcription	Left Ventricle	heart
16	chr8:125761800-125763200	Enhancers	Lung	lung
17	chr8:125761800-125764000	Weak transcription	Esophagus	oesophagus
18	chr8:125761800-125764000	Weak transcription	Rectal Mucosa Donor 29	rectum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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