Variant report

Variant	rs4388448
Chromosome Location	chr8:124924961-124924962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10111524	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13272022	0.83[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs13273203	0.91[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4242348	0.90[CEU][hapmap];0.83[ASN][1000 genomes]
rs4370516	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs4871418	0.92[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6470199	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6470203	0.83[ASN][1000 genomes]
rs6980985	0.83[CEU][hapmap];0.91[JPT][hapmap]
rs6982799	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7817233	0.91[JPT][hapmap]
rs7823126	0.83[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7829766	0.83[ASN][1000 genomes]
rs7831101	0.83[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[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	nsv1033617	chr8:124895516-125012783	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035035	chr8:124895516-125020472	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv612141	chr8:124895809-125006490	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv612142	chr8:124896389-125006490	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4388448	TATDN1	cis	parietal	SCAN
rs4388448	GADD45GIP1	trans	parietal	SCAN
rs4388448	TATDN1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124922800-124925200	Enhancers	Stomach Mucosa	stomach
2	chr8:124922800-124925800	Enhancers	Fetal Intestine Large	intestine
3	chr8:124923000-124927000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:124923200-124925000	Enhancers	Fetal Intestine Small	intestine
5	chr8:124923200-124925400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:124923600-124925200	Enhancers	Duodenum Mucosa	Duodenum
7	chr8:124923600-124926800	Enhancers	HSMMtube	muscle
8	chr8:124924000-124925400	Enhancers	Colonic Mucosa	Colon
9	chr8:124924200-124925800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:124924400-124926400	Weak transcription	HSMM	muscle
11	chr8:124924400-124926600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:124924600-124927000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:124924800-124926600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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