Variant report

Variant	rs13181011
Chromosome Location	chr5:7874424-7874425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:7874236-7874436	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:7874051-7876125	K562	blood:	n/a	n/a
3	MAFF	chr5:7874234-7874464	HepG2	liver:	n/a	n/a
4	MAFK	chr5:7874418-7874460	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr5:7874163-7874425	IMR90	lung:	n/a	chr5:7874284-7874299

No.	Distal block	Cell Line	Cell type
1	chr5:7873979..7876833-chr5:7886025..7888380,2	K562	blood:
2	chr5:7861753..7863633-chr5:7874321..7876476,2	K562	blood:
3	chr5:7874190..7876612-chr5:7884831..7887191,2	K562	blood:

Variant related genes	Relation type
MTRR	TF binding region
ENSG00000124279	Chromatin interaction
ENSG00000124275	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11949523	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12108985	0.89[EUR][1000 genomes]
rs13154459	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13189728	0.91[EUR][1000 genomes]
rs13190084	0.91[EUR][1000 genomes]
rs16879109	1.00[CHD][hapmap]
rs17184211	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17243407	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17267737	0.89[EUR][1000 genomes]
rs2128266	0.89[EUR][1000 genomes]
rs34966478	0.89[EUR][1000 genomes]
rs62342527	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62342530	0.88[EUR][1000 genomes]
rs7716373	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9282787	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13181011	MTRR	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7870000-7875400	Weak transcription	Spleen	Spleen
2	chr5:7870200-7875400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:7870200-7875600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:7870200-7875600	Weak transcription	HSMMtube	muscle
5	chr5:7870200-7875800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:7870200-7875800	Weak transcription	Esophagus	oesophagus
7	chr5:7870200-7875800	Weak transcription	Gastric	stomach
8	chr5:7870200-7876000	Weak transcription	Fetal Brain Male	brain
9	chr5:7870200-7879800	Weak transcription	Pancreas	Pancrea
10	chr5:7870200-7882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:7870200-7903400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:7870400-7875400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:7870400-7875600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:7870400-7875600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:7870600-7874800	Weak transcription	Fetal Kidney	kidney
16	chr5:7870600-7876200	Weak transcription	Fetal Stomach	stomach
17	chr5:7870600-7878000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:7870600-7878400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:7870800-7875400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:7870800-7875600	Weak transcription	Fetal Brain Female	brain
21	chr5:7870800-7879800	Weak transcription	Colonic Mucosa	Colon
22	chr5:7871000-7874600	Weak transcription	Adipose Nuclei	Adipose
23	chr5:7871000-7875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:7871000-7875400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:7871000-7875400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:7871000-7875400	Weak transcription	HUVEC	blood vessel
27	chr5:7871000-7875400	Weak transcription	NH-A	brain
28	chr5:7871000-7875400	Weak transcription	NHLF	lung
29	chr5:7871000-7875600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:7871000-7875600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:7871000-7875600	Weak transcription	Ovary	ovary
32	chr5:7871000-7876000	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:7871000-7894000	Weak transcription	Fetal Heart	heart
34	chr5:7871200-7875400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:7871200-7903400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:7871200-7903600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:7871200-7903800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:7871400-7877800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr5:7871400-7878000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:7871400-7902400	Strong transcription	K562	blood
41	chr5:7871400-7903800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:7871600-7875600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:7871600-7876600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:7871600-7886800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:7871600-7887200	Strong transcription	Fetal Thymus	thymus
46	chr5:7871600-7887600	Strong transcription	Placenta	Placenta
47	chr5:7871600-7902800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:7871600-7905000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:7871600-7906400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:7871600-7906800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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