Variant report

Variant	rs7142016
Chromosome Location	chr14:104041470-104041471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104038958..104041792-chr14:104093403..104095893,2	MCF-7	breast:
2	chr14:104040497..104046116-chr14:104179984..104183762,7	MCF-7	breast:
3	chr14:104040559..104042718-chr14:104094686..104097466,2	K562	blood:

Variant related genes	Relation type
ENSG00000126214	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11625397	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12589494	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897511	0.85[ASN][1000 genomes]
rs2296483	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4318144	0.84[ASN][1000 genomes]
rs57202218	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58601596	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7155511	0.84[ASN][1000 genomes]
rs752624	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007489	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942862	0.83[EUR][1000 genomes]
rs9652403	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7142016	BAG5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104030000-104045000	Weak transcription	Aorta	Aorta
2	chr14:104030200-104044800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:104030600-104042400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:104030600-104042800	Weak transcription	Fetal Heart	heart
5	chr14:104030800-104042600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:104030800-104044000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:104030800-104073200	Weak transcription	Small Intestine	intestine
8	chr14:104035400-104060400	Weak transcription	Fetal Brain Male	brain
9	chr14:104037400-104042600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:104037400-104048400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr14:104037800-104042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:104037800-104042800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr14:104037800-104045400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:104038000-104042000	Strong transcription	Osteobl	bone
15	chr14:104038000-104042600	Strong transcription	Fetal Muscle Leg	muscle
16	chr14:104038000-104045600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr14:104038000-104045600	Strong transcription	Dnd41	blood
18	chr14:104038200-104042800	Strong transcription	Fetal Intestine Small	intestine
19	chr14:104038400-104048800	Strong transcription	Fetal Brain Female	brain
20	chr14:104038400-104049400	Strong transcription	Primary T cells from cord blood	blood
21	chr14:104038600-104041800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:104038600-104042000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:104038600-104042000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:104038600-104042200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:104038600-104042200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:104038600-104042200	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr14:104038800-104042000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:104038800-104042600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:104038800-104042600	Strong transcription	Fetal Stomach	stomach
30	chr14:104038800-104042800	Strong transcription	Fetal Intestine Large	intestine
31	chr14:104038800-104045600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:104038800-104045600	Strong transcription	HepG2	liver
33	chr14:104038800-104045600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:104038800-104046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:104038800-104051000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:104039000-104045800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:104039000-104046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:104039200-104041600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:104039200-104042400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:104039200-104045600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:104039400-104042600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:104039400-104045600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:104039400-104045800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr14:104039600-104042200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr14:104039600-104045400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:104039800-104041600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:104039800-104041800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:104039800-104041800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:104039800-104042200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr14:104039800-104042600	Strong transcription	Brain Germinal Matrix	brain

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