Variant report

Variant	rs8007588
Chromosome Location	chr14:25287011-25287012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:25286870..25287678-chr14:25619872..25620704,2	MCF-7	breast:
2	chr14:25286776..25287734-chr14:25601846..25602711,3	MCF-7	breast:
3	chr14:25277222..25279364-chr14:25286219..25288103,2	K562	blood:
4	chr14:25286771..25287566-chr14:25619855..25620690,2	MCF-7	breast:
5	chr14:25286735..25287246-chr14:25511793..25512726,2	MCF-7	breast:
6	chr14:25286732..25287686-chr14:25511790..25512486,5	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10134275	0.90[ASN][1000 genomes]
rs12890808	0.92[CEU][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1461644	0.81[ASW][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6574019	0.82[EUR][1000 genomes]
rs8018496	0.92[CEU][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs854321	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs854322	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs854333	0.93[MEX][hapmap]
rs854334	0.86[MEX][hapmap]
rs854337	0.86[MEX][hapmap]
rs898766	0.92[CEU][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv456169	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv564071	chr14:25270335-25288227	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8007588	SLC7A8	cis	cerebellum	SCAN
rs8007588	TTC5	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25278600-25287600	Enhancers	Fetal Intestine Large	intestine
2	chr14:25279800-25287400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:25280800-25289200	Weak transcription	Fetal Stomach	stomach
4	chr14:25281800-25287400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:25283000-25288600	Enhancers	Left Ventricle	heart
6	chr14:25283800-25287400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:25284600-25288000	Enhancers	Stomach Mucosa	stomach
8	chr14:25284600-25289200	Enhancers	Pancreas	Pancrea
9	chr14:25284800-25287400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:25284800-25288400	Enhancers	Right Atrium	heart
11	chr14:25284800-25288600	Genic enhancers	Fetal Lung	lung
12	chr14:25284800-25288800	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr14:25285000-25288000	Enhancers	Lung	lung
14	chr14:25285000-25288400	Flanking Active TSS	HepG2	liver
15	chr14:25285200-25288600	Enhancers	Fetal Heart	heart
16	chr14:25285200-25302200	Weak transcription	HSMM	muscle
17	chr14:25285400-25287800	Enhancers	Brain Angular Gyrus	brain
18	chr14:25285600-25287400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:25285600-25287600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:25285600-25287800	Enhancers	Brain Hippocampus Middle	brain
21	chr14:25285800-25287400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr14:25285800-25287400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:25285800-25288000	Flanking Active TSS	Liver	Liver
24	chr14:25285800-25288600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:25285800-25297800	Weak transcription	HSMMtube	muscle
26	chr14:25286000-25287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:25286000-25296800	Weak transcription	Esophagus	oesophagus
28	chr14:25286200-25288000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:25286200-25288200	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:25286200-25289200	Enhancers	Brain Substantia Nigra	brain
31	chr14:25286400-25287600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:25286400-25288000	Enhancers	Fetal Kidney	kidney
33	chr14:25286400-25288400	Enhancers	Brain Cingulate Gyrus	brain
34	chr14:25286400-25288400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:25286400-25288400	Enhancers	Fetal Muscle Leg	muscle
36	chr14:25286400-25288600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:25286400-25288800	Enhancers	Right Ventricle	heart
38	chr14:25286600-25287400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr14:25286600-25287800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr14:25286600-25288000	Enhancers	Colon Smooth Muscle	Colon
41	chr14:25286800-25287200	Weak transcription	Brain Anterior Caudate	brain
42	chr14:25286800-25287200	Flanking Active TSS	Colonic Mucosa	Colon
43	chr14:25286800-25287200	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr14:25286800-25287200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr14:25286800-25287400	Enhancers	Adipose Nuclei	Adipose
46	chr14:25286800-25287400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr14:25286800-25288000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr14:25286800-25288400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr14:25286800-25288600	Enhancers	Fetal Muscle Trunk	muscle
50	chr14:25286800-25288800	Flanking Active TSS	Duodenum Mucosa	Duodenum

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