Variant report

Variant	rs10483817
Chromosome Location	chr14:69119763-69119764
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69094141..69095767-chr14:69119019..69121278,2	MCF-7	breast:
2	chr14:69118549..69120468-chr14:69255741..69258474,2	MCF-7	breast:
3	chr14:69113799..69116551-chr14:69119650..69121354,2	K562	blood:
4	chr14:68716843..68718749-chr14:69119159..69120912,2	MCF-7	breast:
5	chr14:69119565..69122267-chr14:69260745..69262641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259038	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10483815	0.82[CEU][hapmap]
rs10483818	0.81[YRI][hapmap]
rs12433279	0.81[YRI][hapmap]
rs12435141	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435831	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12437314	0.94[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12890235	0.82[CEU][hapmap]
rs12890882	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17756782	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17835140	0.82[MKK][hapmap]
rs2273486	0.82[CEU][hapmap]
rs4902627	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs8006682	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs8016988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8021657	0.85[ASN][1000 genomes]
rs8023214	0.92[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798800	chr14:69114353-69131030	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69105000-69121600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:69109400-69122400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:69112000-69121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:69113200-69121600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:69114000-69121200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr14:69115200-69123400	Enhancers	Colon Smooth Muscle	Colon
7	chr14:69115400-69119800	Enhancers	Fetal Lung	lung
8	chr14:69115400-69130200	Enhancers	Fetal Stomach	stomach
9	chr14:69115800-69120800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:69115800-69121600	Weak transcription	Small Intestine	intestine
11	chr14:69116000-69120800	Weak transcription	Fetal Thymus	thymus
12	chr14:69116000-69123600	Enhancers	Ovary	ovary
13	chr14:69116600-69121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:69116800-69119800	Enhancers	Fetal Heart	heart
15	chr14:69117000-69124000	Enhancers	Rectal Smooth Muscle	rectum
16	chr14:69117200-69119800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:69117200-69119800	Enhancers	Fetal Muscle Leg	muscle
18	chr14:69117200-69120800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:69117600-69121200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:69117800-69122400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:69118200-69119800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:69118200-69121600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:69118400-69121400	Weak transcription	Primary T cells from cord blood	blood
24	chr14:69118400-69121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69118600-69121400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:69118600-69121800	Weak transcription	Liver	Liver
27	chr14:69118800-69120600	Weak transcription	Gastric	stomach
28	chr14:69118800-69121200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:69118800-69121200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:69118800-69121200	Weak transcription	HepG2	liver
31	chr14:69118800-69121400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:69118800-69121400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:69118800-69121400	Weak transcription	NH-A	brain
34	chr14:69118800-69122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:69119000-69119800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:69119000-69120000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr14:69119000-69121200	Weak transcription	HSMMtube	muscle
38	chr14:69119000-69122600	Weak transcription	A549	lung
39	chr14:69119000-69125800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:69119200-69120400	Weak transcription	Spleen	Spleen
41	chr14:69119200-69121200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:69119200-69121200	Weak transcription	HSMM	muscle
43	chr14:69119400-69120600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:69119400-69121000	Weak transcription	Fetal Intestine Small	intestine
45	chr14:69119400-69121000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:69119400-69121000	Weak transcription	Pancreas	Pancrea
47	chr14:69119400-69121000	Weak transcription	Right Ventricle	heart
48	chr14:69119400-69121200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:69119400-69121200	Weak transcription	Fetal Intestine Large	intestine
50	chr14:69119400-69121200	Weak transcription	Left Ventricle	heart

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