Variant report

Variant	rs34750837
Chromosome Location	chr12:66555618-66555619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:66548703..66551216-chr12:66555058..66558052,2	MCF-7	breast:
2	chr12:66550852..66561080-chr12:66561565..66565303,15	MCF-7	breast:
3	chr12:66554922..66556425-chr12:66697932..66699503,2	K562	blood:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12578364	0.82[EUR][1000 genomes]
rs12578752	0.82[EUR][1000 genomes]
rs12578994	0.82[EUR][1000 genomes]
rs12814331	0.82[EUR][1000 genomes]
rs12814606	0.82[EUR][1000 genomes]
rs17245364	0.82[EUR][1000 genomes]
rs17825943	0.84[EUR][1000 genomes]
rs34406211	0.84[EUR][1000 genomes]
rs34552143	0.82[EUR][1000 genomes]
rs35131575	0.84[EUR][1000 genomes]
rs35187440	0.82[EUR][1000 genomes]
rs35971570	0.82[EUR][1000 genomes]
rs36073795	0.82[EUR][1000 genomes]
rs59112451	0.84[EUR][1000 genomes]
rs737614	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv976636	chr12:66553474-66556236	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34750837	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:66525600-66561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:66526600-66557200	Weak transcription	Psoas Muscle	Psoas
4	chr12:66536200-66558000	Weak transcription	Fetal Brain Female	brain
5	chr12:66536400-66556200	Weak transcription	Right Ventricle	heart
6	chr12:66536400-66557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:66536400-66562400	Weak transcription	HMEC	breast
8	chr12:66536800-66556200	Weak transcription	Left Ventricle	heart
9	chr12:66537400-66556200	Weak transcription	Ovary	ovary
10	chr12:66538400-66556200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:66538600-66560400	Weak transcription	Fetal Brain Male	brain
12	chr12:66539200-66558400	Weak transcription	A549	lung
13	chr12:66539400-66556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:66539400-66561400	Weak transcription	Fetal Heart	heart
15	chr12:66539400-66562200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:66542800-66563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:66544200-66557600	Weak transcription	K562	blood
18	chr12:66547400-66562000	Weak transcription	HUVEC	blood vessel
19	chr12:66548400-66562200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:66548600-66562000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:66549200-66561800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:66549200-66561800	Weak transcription	Right Atrium	heart
23	chr12:66550000-66557600	Strong transcription	Primary T cells from cord blood	blood
24	chr12:66550200-66557400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:66550400-66559200	Weak transcription	Colonic Mucosa	Colon
26	chr12:66551200-66560400	Weak transcription	HepG2	liver
27	chr12:66551400-66558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:66552200-66556000	Strong transcription	Dnd41	blood
29	chr12:66552600-66556000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:66553000-66555800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:66553000-66555800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:66553000-66562200	Weak transcription	Brain Angular Gyrus	brain
33	chr12:66553200-66556200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:66553200-66561600	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:66553200-66562400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:66553400-66555800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:66553400-66559000	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:66553600-66556600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:66553600-66557200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:66553800-66557200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:66553800-66559200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:66553800-66561800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:66554000-66555800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:66554000-66555800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:66554000-66558600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:66554000-66558600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:66554000-66559200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:66554000-66560400	Weak transcription	HSMM	muscle
49	chr12:66554000-66560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:66554000-66560800	Weak transcription	Liver	Liver

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