Variant report

Variant	rs35515628
Chromosome Location	chr12:66456028-66456029
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	CTBP2	chr12:66455339-66456079	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr12:66455828-66456138	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr12:66455769-66456103	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFIC	chr12:66454599-66456232	ECC-1	luminal epithelium:	n/a	chr12:66455350-66455378
5	EP300	chr12:66455731-66456118	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr12:66455461-66456165	H1-hESC	embryonic stem cell:	n/a	chr12:66455506-66455524
7	SP1	chr12:66455560-66456156	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr12:66455439-66456294	MCF10A-Er-Src	breast:	n/a	n/a
9	NANOG	chr12:66455625-66456045	H1-hESC	embryonic stem cell:	n/a	chr12:66455842-66455856
10	SP1	chr12:66455660-66456155	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr12:66455567-66456129	H1-hESC	embryonic stem cell:	n/a	chr12:66455745-66455752 chr12:66455744-66455753
12	CTCF	chr12:66456020-66456170	NHDF-neo	bronchial:	n/a	n/a
13	MYC	chr12:66456017-66456363	MCF10A-Er-Src	breast:	n/a	n/a
14	HDAC2	chr12:66455676-66456136	H1-hESC	embryonic stem cell:	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12581342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817234	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817410	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35164757	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35758766	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[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
rs35515628	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 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	chr12:66455200-66456200	Enhancers	HUVEC	blood vessel
6	chr12:66455200-66457200	Enhancers	Fetal Muscle Leg	muscle
7	chr12:66455200-66458200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:66455400-66456200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:66455400-66456200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:66455400-66456400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:66455400-66457000	Enhancers	Ovary	ovary
12	chr12:66455600-66456200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:66455600-66456200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:66455800-66456200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:66455800-66456200	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:66455800-66456200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:66455800-66456200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:66455800-66456400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:66455800-66456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:66455800-66461200	Enhancers	NHDF-Ad	bronchial
21	chr12:66456000-66456200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr12:66456000-66456200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:66456000-66456200	Enhancers	HepG2	liver
24	chr12:66456000-66458200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:66456000-66458400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:66456000-66458800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:66456000-66458800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:66456000-66459400	Weak transcription	Fetal Lung	lung
29	chr12:66456000-66460200	Weak transcription	Fetal Kidney	kidney

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