Variant report

Variant	rs511187
Chromosome Location	chr1:168695027-168695028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs512129	0.85[CEU][hapmap]
rs528953	0.85[CEU][hapmap]
rs545833	0.85[CEU][hapmap]
rs553721	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs607484	0.85[CEU][hapmap]
rs681316	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs511187	TBX19	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168678200-168695600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:168683600-168696000	Weak transcription	Left Ventricle	heart
3	chr1:168688000-168695200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:168689000-168697000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:168689600-168695400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:168690000-168695800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:168692600-168697000	Weak transcription	Pancreas	Pancrea
8	chr1:168692600-168698200	Weak transcription	Psoas Muscle	Psoas
9	chr1:168693000-168695800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:168694000-168698600	Active TSS	Rectal Smooth Muscle	rectum
11	chr1:168694200-168695800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:168694600-168695200	Active TSS	Colon Smooth Muscle	Colon
13	chr1:168694600-168695200	Enhancers	Ovary	ovary
14	chr1:168694600-168695600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:168694600-168697000	Enhancers	Fetal Stomach	stomach
16	chr1:168694600-168698800	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:168694800-168695600	Weak transcription	Fetal Heart	heart
18	chr1:168694800-168699000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr1:168695000-168695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:168695000-168696200	Enhancers	Fetal Lung	lung
21	chr1:168695000-168698800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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