Variant report

Variant	rs1152906
Chromosome Location	chr12:66627123-66627124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66619417..66622573-chr12:66625034..66628303,3	MCF-7	breast:
2	chr12:66581178..66583030-chr12:66624956..66627272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090376	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1152907	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1152908	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1152909	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1168641	0.82[EUR][1000 genomes]
rs1168644	0.82[EUR][1000 genomes]
rs1168762	0.81[EUR][1000 genomes]
rs1370128	0.82[EUR][1000 genomes]
rs1623665	0.82[EUR][1000 genomes]
rs1732877	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1152906	TMBIM4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:66604400-66628800	Weak transcription	Right Ventricle	heart
3	chr12:66605200-66628800	Weak transcription	Psoas Muscle	Psoas
4	chr12:66605400-66628200	Weak transcription	NHDF-Ad	bronchial
5	chr12:66608800-66628800	Weak transcription	Gastric	stomach
6	chr12:66609000-66628800	Weak transcription	Left Ventricle	heart
7	chr12:66609200-66628800	Weak transcription	Colonic Mucosa	Colon
8	chr12:66609200-66629000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:66610000-66628800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:66611600-66627600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:66612200-66628000	Weak transcription	Placenta	Placenta
12	chr12:66612400-66628200	Weak transcription	Primary B cells from cord blood	blood
13	chr12:66612600-66628000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:66613400-66628400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:66614200-66627200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:66614200-66628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
18	chr12:66618800-66628600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:66618800-66628800	Weak transcription	Fetal Stomach	stomach
20	chr12:66619200-66628400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:66620800-66628000	Weak transcription	Fetal Brain Male	brain
22	chr12:66622000-66628000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:66622400-66628800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:66624400-66628000	Weak transcription	Spleen	Spleen
25	chr12:66624400-66628600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:66624400-66628800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:66624400-66628800	Weak transcription	Aorta	Aorta
28	chr12:66624800-66628200	Weak transcription	Adipose Nuclei	Adipose
29	chr12:66625400-66628600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:66625400-66628600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:66626200-66628600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:66626200-66628600	Weak transcription	HUVEC	blood vessel
33	chr12:66626200-66628800	Weak transcription	Pancreas	Pancrea
34	chr12:66626400-66627800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:66626400-66628000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:66626400-66628600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:66626400-66628800	Weak transcription	Lung	lung
38	chr12:66626600-66627800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:66626600-66628000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:66626600-66628000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:66626600-66628000	Weak transcription	Fetal Thymus	thymus
42	chr12:66626600-66628400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:66626600-66628600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:66626600-66628800	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:66626600-66629000	Weak transcription	Small Intestine	intestine
46	chr12:66626600-66629200	Weak transcription	Liver	Liver
47	chr12:66626600-66633600	Weak transcription	Fetal Lung	lung
48	chr12:66626800-66628600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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