Variant report

Variant	rs8005540
Chromosome Location	chr14:104075016-104075017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104027231..104029989-chr14:104073451..104075622,2	MCF-7	breast:
2	chr14:104071968..104075598-chr14:104093991..104095637,3	MCF-7	breast:
3	chr14:104064278..104066536-chr14:104074271..104076591,2	MCF-7	breast:
4	chr14:104073010..104076125-chr14:104181634..104184420,3	MCF-7	breast:
5	chr14:104074469..104076421-chr14:104076600..104079246,2	K562	blood:
6	chr14:104033774..104035610-chr14:104074233..104076261,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100711	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11160756	0.81[ASN][1000 genomes]
rs11626589	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11848721	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435399	0.83[EUR][1000 genomes]
rs12879004	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12897511	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28798508	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28823639	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2896488	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34258128	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35015260	0.81[ASN][1000 genomes]
rs3759586	0.82[EUR][1000 genomes]
rs4318144	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4374097	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4383078	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4444269	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4464019	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4906340	0.81[EUR][1000 genomes]
rs4906341	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4906342	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4906348	0.83[EUR][1000 genomes]
rs61995761	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155511	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7157116	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7161125	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs729437	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs745079	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8007915	0.81[ASN][1000 genomes]
rs8020099	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8021368	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	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
8	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8005540	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs8005540	ZFYVE21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104060200-104090200	Weak transcription	Pancreas	Pancrea
2	chr14:104073200-104075200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:104073600-104075200	Enhancers	Fetal Brain Male	brain
4	chr14:104073600-104075200	Enhancers	Spleen	Spleen
5	chr14:104074200-104075200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:104074200-104075200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr14:104074200-104075200	Enhancers	Fetal Brain Female	brain
8	chr14:104074200-104075200	Bivalent Enhancer	Fetal Stomach	stomach
9	chr14:104074200-104075200	Enhancers	Right Ventricle	heart
10	chr14:104074400-104075200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr14:104074400-104075200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr14:104074400-104075200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:104074400-104075200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:104074400-104075200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:104074400-104075200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:104074400-104075200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr14:104074400-104075200	Bivalent Enhancer	Fetal Thymus	thymus
18	chr14:104074400-104075400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr14:104074400-104075800	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr14:104074400-104075800	Enhancers	HSMMtube	muscle
21	chr14:104074600-104075200	Bivalent Enhancer	Primary T cells from cord blood	blood
22	chr14:104074600-104075200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:104074600-104075200	Enhancers	Brain Anterior Caudate	brain
24	chr14:104074600-104075200	Enhancers	Brain Hippocampus Middle	brain
25	chr14:104074600-104075200	Enhancers	Placenta	Placenta
26	chr14:104074600-104075200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr14:104074600-104075200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr14:104074600-104077600	Weak transcription	Brain Angular Gyrus	brain
29	chr14:104074800-104075200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:104074800-104075200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:104074800-104075200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr14:104074800-104075200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:104074800-104075200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:104074800-104075200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:104074800-104075200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
36	chr14:104074800-104075400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr14:104075000-104075200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr14:104075000-104075200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:104075000-104075200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr14:104075000-104075200	Bivalent Enhancer	Dnd41	blood
41	chr14:104075000-104076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:104075000-104077600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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