Variant report

Variant	rs17454476
Chromosome Location	chr12:42867730-42867731
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42867148..42869187-chr12:42983143..42985743,2	K562	blood:
2	chr12:42858838..42861541-chr12:42866075..42868198,2	K562	blood:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1037401	1.00[GIH][hapmap]
rs17091220	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3810787	1.00[MEX][hapmap];0.82[TSI][hapmap]
rs73122423	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17454476	MADP-1	cis	multi-tissue	Pritchard

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
3	chr12:42837000-42868800	Weak transcription	Esophagus	oesophagus
4	chr12:42853400-42869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:42854000-42868600	Weak transcription	Right Ventricle	heart
6	chr12:42860200-42868800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:42860200-42870400	Weak transcription	Pancreas	Pancrea
8	chr12:42860200-42876200	Weak transcription	Gastric	stomach
9	chr12:42861400-42876000	Weak transcription	Lung	lung
10	chr12:42862800-42876000	Weak transcription	Aorta	Aorta
11	chr12:42863200-42868400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:42863200-42868800	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:42863400-42867800	Enhancers	Fetal Kidney	kidney
14	chr12:42863400-42868800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:42863400-42869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:42863400-42869600	Enhancers	Fetal Heart	heart
17	chr12:42863400-42874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:42863400-42875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:42863400-42876000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:42864000-42868800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:42864000-42869000	Weak transcription	Small Intestine	intestine
22	chr12:42864200-42868200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:42864200-42868800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:42864400-42876000	Weak transcription	Spleen	Spleen
25	chr12:42864800-42868800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:42864800-42875600	Weak transcription	Fetal Stomach	stomach
27	chr12:42865000-42869000	Weak transcription	Adipose Nuclei	Adipose
28	chr12:42865000-42869200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:42865200-42868000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:42865200-42868800	Enhancers	Primary B cells from cord blood	blood
31	chr12:42865600-42869200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:42866200-42868200	Weak transcription	GM12878-XiMat	blood
33	chr12:42866200-42868600	Enhancers	HMEC	breast
34	chr12:42866200-42869200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:42866200-42869200	Enhancers	NHDF-Ad	bronchial
36	chr12:42866200-42869800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:42866200-42876000	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:42866400-42868000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:42866400-42869400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:42866600-42869000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:42866600-42869200	Enhancers	HSMMtube	muscle
42	chr12:42866600-42869400	Enhancers	Osteobl	bone
43	chr12:42866600-42869600	Enhancers	NHEK	skin
44	chr12:42866600-42870800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:42866800-42867800	Enhancers	NH-A	brain
46	chr12:42866800-42868000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:42866800-42868800	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:42866800-42869600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:42867000-42868200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:42867000-42868800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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