Variant report

Variant	rs8021904
Chromosome Location	chr14:104097579-104097580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104026845..104031617-chr14:104090112..104098528,12	MCF-7	breast:
2	chr14:104095841..104097584-chr14:104162172..104164814,2	MCF-7	breast:
3	chr14:104091773..104098220-chr14:104179036..104183968,10	MCF-7	breast:
4	chr14:104096516..104099228-chr14:104099460..104101440,3	K562	blood:
5	chr14:103986778..103989691-chr14:104095238..104098302,4	K562	blood:
6	chr14:104093231..104097862-chr14:104156769..104161796,10	MCF-7	breast:
7	chr14:104095744..104098387-chr14:104161337..104163963,2	K562	blood:
8	chr14:104086843..104088681-chr14:104097332..104099749,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166165	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000269958	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000269940	Chromatin interaction
ENSG00000269963	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000269910	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10047805	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1054080	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11160756	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11626589	0.80[ASN][1000 genomes]
rs11848721	0.81[ASN][1000 genomes]
rs11850979	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2403203	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2896488	0.80[ASN][1000 genomes]
rs2896489	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35015260	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742463	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3742465	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759586	0.81[ASN][1000 genomes]
rs4900586	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4900589	0.81[AMR][1000 genomes]
rs4906341	0.82[ASN][1000 genomes]
rs4906348	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4906355	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4906358	0.82[AMR][1000 genomes]
rs61995761	0.82[ASN][1000 genomes]
rs7157116	0.82[ASN][1000 genomes]
rs729437	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8003289	0.83[AMR][1000 genomes]
rs8007915	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8008451	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8021368	0.82[ASN][1000 genomes]
rs861545	0.83[AMR][1000 genomes]
rs861547	0.83[AMR][1000 genomes]
rs8702	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	esv3490243	chr14:104083248-104099394	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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	28 gene(s)	inside rSNPs	diseases
9	esv3490244	chr14:104083248-104099394	Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
10	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8021904	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs8021904	ZFYVE21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104094400-104097600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr14:104096600-104097600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:104096600-104097600	Enhancers	Small Intestine	intestine
4	chr14:104096600-104097800	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:104096600-104098000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:104096600-104098000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:104096600-104098200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:104096600-104098600	Weak transcription	Spleen	Spleen
9	chr14:104096600-104098800	Enhancers	Pancreas	Pancrea
10	chr14:104096600-104099600	Weak transcription	Esophagus	oesophagus
11	chr14:104096600-104100800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr14:104096600-104118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104096800-104097800	Enhancers	Placenta	Placenta
14	chr14:104096800-104098000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr14:104096800-104098800	Enhancers	Left Ventricle	heart
16	chr14:104097000-104100600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:104097200-104097600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
18	chr14:104097200-104097600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:104097200-104097800	Genic enhancers	Fetal Intestine Small	intestine
20	chr14:104097200-104099400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:104097400-104097600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:104097400-104097600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:104097400-104097600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:104097400-104097600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:104097400-104097600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:104097400-104097600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:104097400-104097600	Enhancers	Brain Angular Gyrus	brain
28	chr14:104097400-104097600	Enhancers	Lung	lung
29	chr14:104097400-104097600	Enhancers	K562	blood
30	chr14:104097400-104097800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:104097400-104098000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:104097400-104098000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:104097400-104098000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr14:104097400-104098000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr14:104097400-104098200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:104097400-104098200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:104097400-104098200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr14:104097400-104098200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:104097400-104098200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:104097400-104098200	Enhancers	Brain Hippocampus Middle	brain
41	chr14:104097400-104098200	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:104097400-104098200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:104097400-104098200	Weak transcription	Fetal Thymus	thymus
44	chr14:104097400-104098200	Enhancers	Stomach Smooth Muscle	stomach
45	chr14:104097400-104098200	Weak transcription	GM12878-XiMat	blood
46	chr14:104097400-104098200	Weak transcription	HMEC	breast
47	chr14:104097400-104098400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:104097400-104098400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:104097400-104098400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:104097400-104098400	Weak transcription	Brain Inferior Temporal Lobe	brain

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