Variant report

Variant	rs2383302
Chromosome Location	chr14:32903616-32903617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10136333	0.85[CEU][hapmap]
rs17409829	0.88[CEU][hapmap]
rs1815234	0.80[EUR][1000 genomes]
rs1951189	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1951191	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1957013	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1957015	0.87[ASW][hapmap];0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1957018	0.84[MEX][hapmap]
rs1957019	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3784188	0.91[JPT][hapmap]
rs4329831	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4981969	0.80[ASN][1000 genomes]
rs6571518	0.84[MEX][hapmap]
rs71419908	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7147629	1.00[YRI][hapmap]
rs7157747	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs8013463	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs941746	0.86[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs941747	0.81[EUR][1000 genomes]
rs941748	0.81[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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32897600-32908400	Weak transcription	Fetal Brain Female	brain
2	chr14:32898000-32906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:32898200-32908200	Weak transcription	Right Atrium	heart
4	chr14:32898400-32908400	Weak transcription	Psoas Muscle	Psoas
5	chr14:32899000-32913400	Weak transcription	Fetal Lung	lung
6	chr14:32899600-32906200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:32899800-32907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:32900000-32905800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:32901800-32904200	Enhancers	Brain Angular Gyrus	brain
10	chr14:32901800-32907800	Active TSS	Aorta	Aorta
11	chr14:32902000-32904400	Enhancers	Brain Substantia Nigra	brain
12	chr14:32902200-32904400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr14:32902600-32904000	Enhancers	Fetal Intestine Large	intestine
14	chr14:32902600-32904200	Enhancers	K562	blood
15	chr14:32902600-32904400	Genic enhancers	Brain Anterior Caudate	brain
16	chr14:32902600-32904600	Strong transcription	Brain Germinal Matrix	brain
17	chr14:32902800-32904400	Enhancers	Colon Smooth Muscle	Colon
18	chr14:32902800-32905800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr14:32902800-32907200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:32902800-32907400	Weak transcription	Fetal Heart	heart
21	chr14:32903000-32903800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:32903000-32904200	Active TSS	Primary B cells from peripheral blood	blood
23	chr14:32903000-32904200	Enhancers	Brain Cingulate Gyrus	brain
24	chr14:32903000-32904400	Active TSS	Ovary	ovary
25	chr14:32903000-32904800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr14:32903000-32906200	Weak transcription	Right Ventricle	heart
27	chr14:32903000-32907000	Weak transcription	Small Intestine	intestine
28	chr14:32903000-32910200	Weak transcription	Esophagus	oesophagus
29	chr14:32903200-32903800	Enhancers	Brain Hippocampus Middle	brain
30	chr14:32903200-32903800	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:32903200-32904400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:32903200-32904400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr14:32903200-32904600	Active TSS	Stomach Smooth Muscle	stomach
34	chr14:32903400-32904000	Flanking Active TSS	GM12878-XiMat	blood
35	chr14:32903400-32906400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:32903400-32908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:32903600-32903800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:32903600-32903800	Enhancers	Left Ventricle	heart
39	chr14:32903600-32904000	Enhancers	Stomach Mucosa	stomach
40	chr14:32903600-32904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:32903600-32904400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:32903600-32908600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links