Variant report

Variant	rs12817410
Chromosome Location	chr12:66454228-66454229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12423372	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581342	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817234	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35085853	0.80[AMR][1000 genomes]
rs35164757	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35515628	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35758766	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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
rs12817410	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66453200-66454400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:66453400-66454800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:66453600-66454800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:66453600-66459000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:66453800-66454600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:66453800-66455200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:66453800-66455400	Weak transcription	Ovary	ovary
8	chr12:66453800-66455600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:66453800-66455600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:66453800-66456000	Weak transcription	Fetal Brain Male	brain
11	chr12:66453800-66460800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:66454000-66455200	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:66454200-66455000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:66454200-66455200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:66454200-66455600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:66454200-66455600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr12:66454200-66455600	Enhancers	HepG2	liver
18	chr12:66454200-66459600	Weak transcription	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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