Variant report

Variant	rs17105940
Chromosome Location	chr14:69066559-69066560
allele	C/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:
4	chr14:69064012..69066620-chr14:69071141..69073837,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12590536	1.00[JPT][hapmap]
rs17105965	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829281	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284053	0.85[ASN][1000 genomes]
rs8006141	0.82[CHD][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17105940	MAX	cis	parietal	SCAN
rs17105940	C14orf162	cis	parietal	SCAN
rs17105940	ACTN1	cis	cerebellum	SCAN
rs17105940	MPP5	cis	parietal	SCAN

Chromatin state (count:82 , 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	chr14:69061800-69066600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr14:69061800-69070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:69062200-69073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:69063600-69067200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr14:69063800-69067200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr14:69064000-69066800	Enhancers	HSMM	muscle
9	chr14:69064000-69067000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:69064400-69067200	Enhancers	Primary B cells from cord blood	blood
11	chr14:69064400-69067200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr14:69064400-69070800	Enhancers	Fetal Intestine Large	intestine
13	chr14:69064800-69066600	Enhancers	Brain Hippocampus Middle	brain
14	chr14:69064800-69066800	Enhancers	Brain Substantia Nigra	brain
15	chr14:69064800-69066800	Enhancers	Colon Smooth Muscle	Colon
16	chr14:69064800-69067000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:69064800-69067000	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:69064800-69067200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:69064800-69067200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:69064800-69067200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:69064800-69067200	Enhancers	Fetal Lung	lung
22	chr14:69064800-69067600	Enhancers	Fetal Kidney	kidney
23	chr14:69065000-69066600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:69065000-69066600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:69065000-69066600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:69065000-69066600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:69065000-69066600	Flanking Active TSS	A549	lung
28	chr14:69065000-69066600	Enhancers	NHDF-Ad	bronchial
29	chr14:69065000-69066800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:69065000-69067000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:69065000-69067400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr14:69065000-69067600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:69065000-69067600	Enhancers	Fetal Muscle Leg	muscle
34	chr14:69065000-69067600	Enhancers	Placenta	Placenta
35	chr14:69065000-69068000	Enhancers	Fetal Stomach	stomach
36	chr14:69065200-69066600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69065200-69066600	Enhancers	Right Ventricle	heart
38	chr14:69065200-69066600	Enhancers	NHEK	skin
39	chr14:69065200-69066800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:69065200-69066800	Enhancers	Brain Anterior Caudate	brain
41	chr14:69065200-69066800	Flanking Active TSS	Hela-S3	cervix
42	chr14:69065200-69067200	Enhancers	Fetal Thymus	thymus
43	chr14:69065200-69067400	Enhancers	Fetal Muscle Trunk	muscle
44	chr14:69065200-69069000	Enhancers	Lung	lung
45	chr14:69065400-69066600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:69065400-69068400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:69065400-69069000	Enhancers	Pancreas	Pancrea
48	chr14:69065800-69066600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr14:69065800-69067000	Enhancers	Gastric	stomach
50	chr14:69065800-69067000	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links