Variant report

Variant	rs4334089
Chromosome Location	chr12:48286015-48286016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48276795..48279456-chr12:48285534..48287746,2	MCF-7	breast:
2	chr12:48280571..48282115-chr12:48285370..48287447,2	K562	blood:
3	chr12:48284997..48287054-chr12:48287435..48289980,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10875695	1.00[CEU][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875700	0.81[JPT][hapmap]
rs10875702	0.84[JPT][hapmap]
rs10875708	0.82[CHB][hapmap]
rs11168314	0.82[CHB][hapmap]
rs11168315	0.81[CHB][hapmap]
rs11168316	0.82[CHB][hapmap]
rs11168318	0.82[CHB][hapmap]
rs11568820	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4237855	0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4341603	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4402365	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4760655	0.81[JPT][hapmap]
rs7136534	0.90[CEU][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs7302235	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7303966	0.81[JPT][hapmap]
rs7305180	0.81[JPT][hapmap]
rs7312286	0.81[JPT][hapmap]
rs7965397	0.88[ASN][1000 genomes]
rs7976091	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4334089	TMBIM6	cis	cerebellum	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277000-48286200	Weak transcription	Right Atrium	heart
3	chr12:48277200-48289600	Weak transcription	Esophagus	oesophagus
4	chr12:48277200-48290600	Weak transcription	Gastric	stomach
5	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:48277600-48287400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:48277600-48289000	Weak transcription	Hela-S3	cervix
8	chr12:48278400-48287400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:48278400-48289600	Weak transcription	Stomach Mucosa	stomach
10	chr12:48278600-48287800	Strong transcription	NHEK	skin
11	chr12:48279200-48287400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:48279400-48286600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:48280200-48286600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:48280200-48286600	Weak transcription	Primary T cells from cord blood	blood
15	chr12:48280800-48286600	Weak transcription	NHLF	lung
16	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:48281400-48287600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:48282800-48286600	Strong transcription	HSMMtube	muscle
19	chr12:48283000-48287800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:48283200-48288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:48283400-48286400	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:48283400-48286600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:48283400-48287600	Weak transcription	Primary B cells from cord blood	blood
24	chr12:48283400-48287600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:48283400-48287600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:48283400-48289600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:48283400-48289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:48283400-48293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:48283600-48290000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:48283600-48290400	Weak transcription	Fetal Intestine Large	intestine
31	chr12:48284000-48289600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:48284600-48286200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:48284600-48286400	Weak transcription	Fetal Thymus	thymus
34	chr12:48284600-48287400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:48284800-48287000	Strong transcription	HMEC	breast
36	chr12:48284800-48287600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:48284800-48288200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:48285000-48286200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:48285000-48286200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
41	chr12:48285200-48290000	Strong transcription	Fetal Intestine Small	intestine
42	chr12:48285400-48287400	Weak transcription	GM12878-XiMat	blood
43	chr12:48285400-48289600	Weak transcription	Placenta	Placenta
44	chr12:48285600-48286400	Weak transcription	NHDF-Ad	bronchial
45	chr12:48285600-48286600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:48285600-48286600	Weak transcription	HSMM	muscle
47	chr12:48285600-48287200	Genic enhancers	Monocytes-CD14+_RO01746	blood
48	chr12:48285800-48286200	Strong transcription	Colonic Mucosa	Colon
49	chr12:48285800-48286400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:48285800-48286400	Enhancers	Spleen	Spleen

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