Variant report

Variant	rs12581342
Chromosome Location	chr12:66455016-66455017
allele	A/G
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	ESR1	chr12:66454856-66455194	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr12:66454740-66455235	ECC-1	luminal epithelium:	n/a	n/a
3	ESR1	chr12:66454684-66455173	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr12:66454599-66456232	ECC-1	luminal epithelium:	n/a	chr12:66455350-66455378
5	TEAD4	chr12:66454819-66455307	HepG2	liver:	n/a	n/a
6	TEAD4	chr12:66454781-66455370	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr12:66454623-66455302	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr12:66454565-66455418	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr12:66454793-66455239	ECC-1	luminal epithelium:	n/a	n/a
10	TEAD4	chr12:66454674-66455236	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr12:66454425-66455416	ECC-1	luminal epithelium:	n/a	n/a

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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12817234	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817410	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35164757	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35515628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35758766	0.87[AFR][1000 genomes];1.00[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
rs12581342	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 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	chr12:66453800-66455200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:66453800-66455400	Weak transcription	Ovary	ovary
4	chr12:66453800-66455600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:66453800-66455600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:66453800-66456000	Weak transcription	Fetal Brain Male	brain
7	chr12:66453800-66460800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:66454000-66455200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:66454200-66455200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:66454200-66455600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:66454200-66455600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:66454200-66455600	Enhancers	HepG2	liver
13	chr12:66454200-66459600	Weak transcription	Fetal Brain Female	brain
14	chr12:66454600-66455400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:66454600-66456600	Enhancers	Osteobl	bone
16	chr12:66454800-66455600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:66454800-66455800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:66454800-66455800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:66454800-66456000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:66455000-66455400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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