Variant report

Variant	rs1168774
Chromosome Location	chr12:66591487-66591488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66588124..66590296-chr12:66590579..66593345,2	K562	blood:
2	chr12:66562116..66564861-chr12:66589137..66592515,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1168762	0.83[TSI][hapmap]
rs1168771	0.92[CEU][hapmap];0.98[CHD][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1370128	0.83[TSI][hapmap]
rs1623665	0.83[TSI][hapmap]
rs1732877	0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	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
7	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1168774	TMBIM4	cis	parietal	SCAN
rs1168774	TMBIM4	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583800-66593000	Weak transcription	Aorta	Aorta
2	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:66585600-66592000	Weak transcription	Right Atrium	heart
4	chr12:66587400-66591800	Enhancers	Primary B cells from cord blood	blood
5	chr12:66589400-66591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:66589400-66593200	Weak transcription	Left Ventricle	heart
7	chr12:66589400-66606000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:66589600-66623400	Weak transcription	Spleen	Spleen
9	chr12:66589800-66592400	Enhancers	HUVEC	blood vessel
10	chr12:66590200-66591800	Enhancers	Fetal Kidney	kidney
11	chr12:66590200-66592200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:66590200-66592200	Enhancers	NHDF-Ad	bronchial
13	chr12:66590200-66592400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:66590200-66592400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:66590200-66592400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:66590600-66591600	Enhancers	NHLF	lung
17	chr12:66590600-66591800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:66590600-66591800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:66590600-66592000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr12:66590800-66591600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:66590800-66592200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:66590800-66592200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:66590800-66592400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:66591000-66591800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:66591000-66591800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:66591000-66591800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:66591000-66592000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:66591000-66592400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:66591000-66593400	Enhancers	Adipose Nuclei	Adipose
30	chr12:66591000-66593800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:66591200-66592200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:66591200-66592200	ZNF genes & repeats	GM12878-XiMat	blood
33	chr12:66591200-66593200	Genic enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:66591400-66591600	Flanking Active TSS	Fetal Lung	lung
35	chr12:66591400-66591600	Enhancers	Right Ventricle	heart
36	chr12:66591400-66591600	Enhancers	Small Intestine	intestine
37	chr12:66591400-66591800	Enhancers	HSMM	muscle
38	chr12:66591400-66591800	Enhancers	Osteobl	bone
39	chr12:66591400-66592000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:66591400-66592000	Enhancers	Colon Smooth Muscle	Colon
41	chr12:66591400-66592200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:66591400-66592400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr12:66591400-66594000	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:66591400-66594400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr12:66591400-66597000	Weak transcription	Stomach Mucosa	stomach

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