Variant report

Variant	rs1809167
Chromosome Location	chr8:126541659-126541660
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126541134..126543956-chr8:126578428..126580146,2	MCF-7	breast:
2	chr8:126443899..126444683-chr8:126540924..126541790,2	MCF-7	breast:
3	chr8:126539784..126542545-chr8:126545491..126550201,4	MCF-7	breast:
4	chr8:126540526..126543292-chr8:126545222..126547208,2	K562	blood:
5	chr8:126440014..126446143-chr8:126536595..126545632,13	MCF-7	breast:
6	chr8:126538658..126542290-chr8:126619301..126623874,4	MCF-7	breast:
7	chr8:126540772..126542899-chr8:126554172..126555879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1551397	0.81[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1551398	0.81[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1551399	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1551400	0.81[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs28510097	0.89[ASN][1000 genomes]
rs4871611	0.81[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7002027	0.86[CEU][hapmap]
rs7005585	0.86[CEU][hapmap]
rs7005992	0.86[CEU][hapmap]
rs7818434	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1809167	TRMT12	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126535400-126543200	Weak transcription	Ovary	ovary
2	chr8:126537000-126541800	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr8:126537200-126541800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:126538800-126541800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr8:126539000-126541800	Enhancers	Placenta	Placenta
6	chr8:126539000-126542000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:126539200-126542400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:126539200-126544400	Weak transcription	Right Atrium	heart
9	chr8:126540000-126541800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr8:126540000-126541800	Enhancers	Psoas Muscle	Psoas
11	chr8:126540200-126542800	Enhancers	HSMMtube	muscle
12	chr8:126540600-126541800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:126540600-126541800	Enhancers	K562	blood
14	chr8:126540800-126541800	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:126541000-126541800	Active TSS	Primary B cells from cord blood	blood
16	chr8:126541000-126543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:126541200-126542000	Enhancers	Spleen	Spleen
18	chr8:126541200-126542200	Weak transcription	HSMM	muscle
19	chr8:126541200-126542400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:126541200-126542400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:126541200-126542400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:126541200-126543800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:126541200-126544000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:126541200-126545000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:126541200-126548000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:126541400-126542800	Weak transcription	Osteobl	bone
27	chr8:126541400-126543000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:126541400-126543000	Weak transcription	NH-A	brain
29	chr8:126541400-126544400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:126541400-126546800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:126541600-126541800	Enhancers	Hela-S3	cervix
32	chr8:126541600-126541800	Active TSS	HepG2	liver
33	chr8:126541600-126542000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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