Variant report

Variant	rs4531674
Chromosome Location	chr14:69066743-69066744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69065107..69068379-chr14:69069760..69071455,4	MCF-7	breast:
2	chr14:69058975..69063835-chr14:69063915..69067303,5	MCF-7	breast:
3	chr14:69059250..69061787-chr14:69065099..69067074,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12878761	1.00[CEU][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12879200	0.86[JPT][hapmap]
rs12894230	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1547012	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17829341	0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2145157	0.86[JPT][hapmap]
rs2257111	0.90[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2257116	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs2331775	0.86[JPT][hapmap]
rs36035347	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4899246	0.90[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4902604	0.91[CEU][hapmap]
rs4902606	0.86[JPT][hapmap]
rs4902608	0.86[JPT][hapmap]
rs59934413	0.89[EUR][1000 genomes]
rs61985819	0.83[EUR][1000 genomes]
rs61985820	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61985824	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61985825	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4531674	PLEKHG3	cis	cerebellum	SCAN
rs4531674	MTHFD1	cis	parietal	SCAN
rs4531674	MPP5	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69060200-69068200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr14:69061200-69078000	Weak transcription	Fetal Heart	heart
3	chr14:69061800-69070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:69062200-69073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:69063600-69067200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:69063800-69067200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr14:69064000-69066800	Enhancers	HSMM	muscle
8	chr14:69064000-69067000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:69064400-69067200	Enhancers	Primary B cells from cord blood	blood
10	chr14:69064400-69067200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:69064400-69070800	Enhancers	Fetal Intestine Large	intestine
12	chr14:69064800-69066800	Enhancers	Brain Substantia Nigra	brain
13	chr14:69064800-69066800	Enhancers	Colon Smooth Muscle	Colon
14	chr14:69064800-69067000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:69064800-69067000	Enhancers	Brain Cingulate Gyrus	brain
16	chr14:69064800-69067200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:69064800-69067200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:69064800-69067200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr14:69064800-69067200	Enhancers	Fetal Lung	lung
20	chr14:69064800-69067600	Enhancers	Fetal Kidney	kidney
21	chr14:69065000-69066800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:69065000-69067000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:69065000-69067400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr14:69065000-69067600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:69065000-69067600	Enhancers	Fetal Muscle Leg	muscle
26	chr14:69065000-69067600	Enhancers	Placenta	Placenta
27	chr14:69065000-69068000	Enhancers	Fetal Stomach	stomach
28	chr14:69065200-69066800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr14:69065200-69066800	Enhancers	Brain Anterior Caudate	brain
30	chr14:69065200-69066800	Flanking Active TSS	Hela-S3	cervix
31	chr14:69065200-69067200	Enhancers	Fetal Thymus	thymus
32	chr14:69065200-69067400	Enhancers	Fetal Muscle Trunk	muscle
33	chr14:69065200-69069000	Enhancers	Lung	lung
34	chr14:69065400-69068400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:69065400-69069000	Enhancers	Pancreas	Pancrea
36	chr14:69065800-69067000	Enhancers	Gastric	stomach
37	chr14:69065800-69067000	Enhancers	Spleen	Spleen
38	chr14:69065800-69067200	Enhancers	Left Ventricle	heart
39	chr14:69065800-69067600	Enhancers	Right Atrium	heart
40	chr14:69066000-69066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:69066000-69067000	Enhancers	HMEC	breast
42	chr14:69066000-69067400	Enhancers	HUVEC	blood vessel
43	chr14:69066000-69067600	Enhancers	Adipose Nuclei	Adipose
44	chr14:69066000-69067600	Enhancers	Small Intestine	intestine
45	chr14:69066000-69068200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:69066000-69070600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr14:69066000-69070600	Enhancers	Fetal Intestine Small	intestine
48	chr14:69066000-69071200	Weak transcription	Esophagus	oesophagus
49	chr14:69066000-69073800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr14:69066200-69066800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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