Variant report

Variant	rs214667
Chromosome Location	chr12:47668225-47668226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47660087..47663239-chr12:47665914..47669484,4	MCF-7	breast:
2	chr12:47472808..47476445-chr12:47664416..47668314,6	MCF-7	breast:
3	chr12:47661909..47664625-chr12:47668205..47670728,3	K562	blood:
4	chr12:47630475..47633770-chr12:47667087..47670667,4	K562	blood:
5	chr12:47598762..47601784-chr12:47665654..47668413,3	K562	blood:
6	chr12:47667295..47669429-chr12:47769964..47771855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179715	Chromatin interaction
ENSG00000139211	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs214668	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214669	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214671	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs214672	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs214714	0.83[AMR][1000 genomes]
rs855164	0.83[AMR][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47660600-47673800	Enhancers	HMEC	breast
2	chr12:47661400-47668800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr12:47661600-47670000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:47662200-47670400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:47662600-47670000	Enhancers	Primary T cells from cord blood	blood
6	chr12:47662800-47668400	Enhancers	HSMMtube	muscle
7	chr12:47663600-47668800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:47663600-47669200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:47663600-47671000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:47663800-47670800	Weak transcription	Spleen	Spleen
11	chr12:47664800-47669200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:47665000-47669200	Weak transcription	Fetal Thymus	thymus
13	chr12:47665000-47675400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:47665200-47668600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:47665200-47670400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:47665400-47671200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:47666000-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:47666200-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:47666200-47670800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:47666200-47672200	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:47666400-47670000	Weak transcription	Right Atrium	heart
22	chr12:47666400-47670600	Weak transcription	NHLF	lung
23	chr12:47666400-47670800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:47666600-47669800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:47666800-47668800	Weak transcription	Small Intestine	intestine
26	chr12:47666800-47669800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:47666800-47670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:47667000-47670200	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:47667000-47670200	Weak transcription	Fetal Intestine Small	intestine
30	chr12:47667200-47669400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:47667200-47669800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:47667200-47670000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:47667200-47671000	Weak transcription	Brain Anterior Caudate	brain
34	chr12:47667200-47671200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:47667400-47668400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:47667400-47668400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:47667400-47668600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:47667400-47668600	Weak transcription	NHEK	skin
39	chr12:47667400-47670000	Weak transcription	Esophagus	oesophagus
40	chr12:47667400-47670400	Weak transcription	NH-A	brain
41	chr12:47667400-47670600	Weak transcription	Osteobl	bone
42	chr12:47667600-47668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:47667600-47668800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:47667600-47670400	Enhancers	A549	lung
45	chr12:47667600-47670400	Weak transcription	HSMM	muscle
46	chr12:47667800-47669200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:47667800-47669600	Weak transcription	Hela-S3	cervix
48	chr12:47667800-47670000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:47667800-47670000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:47667800-47670000	Weak transcription	HUVEC	blood vessel

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