Variant report

Variant	rs35164757
Chromosome Location	chr12:66456324-66456325
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	MYC	chr12:66456168-66456352	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr12:66456046-66456332	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr12:66456017-66456363	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:66456044-66456346	MCF10A-Er-Src	breast:	n/a	chr12:66456322-66456333

Variant related genes	Relation type
RNA5SP362	TF binding region

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

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

rs_ID	r²[population]
rs12423372	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581342	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12817234	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12817410	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35515628	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35758766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899213	chr12:66389968-66500036	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832446	chr12:66393863-66501484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35164757	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66453600-66459000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:66453800-66460800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:66454200-66459600	Weak transcription	Fetal Brain Female	brain
4	chr12:66454600-66456600	Enhancers	Osteobl	bone
5	chr12:66455200-66457200	Enhancers	Fetal Muscle Leg	muscle
6	chr12:66455200-66458200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:66455400-66456400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:66455400-66457000	Enhancers	Ovary	ovary
9	chr12:66455800-66456400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr12:66455800-66456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:66455800-66461200	Enhancers	NHDF-Ad	bronchial
12	chr12:66456000-66458200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:66456000-66458400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:66456000-66458800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:66456000-66458800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:66456000-66459400	Weak transcription	Fetal Lung	lung
17	chr12:66456000-66460200	Weak transcription	Fetal Kidney	kidney
18	chr12:66456200-66456400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr12:66456200-66456400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:66456200-66456800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:66456200-66457000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:66456200-66457800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:66456200-66458800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:66456200-66458800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr12:66456200-66458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:66456200-66459600	Weak transcription	HepG2	liver

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