Variant report

Variant	rs28610385
Chromosome Location	chr15:79090606-79090607
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11072803	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11072804	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11072806	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11631955	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11632102	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11634042	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11634450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11639044	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11856536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11858210	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12050525	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12592721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592762	0.81[ASN][1000 genomes]
rs12899147	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12903203	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1825087	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1994016	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2277545	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2277546	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2904220	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3825807	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886592	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4887113	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7173267	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
2	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
4	chr15:79076400-79090800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:79078200-79093200	Strong transcription	Fetal Stomach	stomach
7	chr15:79078400-79091800	Weak transcription	Gastric	stomach
8	chr15:79079400-79091000	Weak transcription	HUVEC	blood vessel
9	chr15:79080400-79096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:79080800-79095200	Weak transcription	Fetal Intestine Large	intestine
11	chr15:79082800-79096200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:79082800-79102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:79083200-79102000	Weak transcription	Fetal Heart	heart
14	chr15:79083800-79102400	Weak transcription	Aorta	Aorta
15	chr15:79085800-79090800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:79086000-79091000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:79086200-79091400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:79088200-79094000	Weak transcription	Lung	lung
19	chr15:79088200-79096800	Weak transcription	Brain Angular Gyrus	brain
20	chr15:79088600-79090800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:79088600-79093400	Weak transcription	Spleen	Spleen
22	chr15:79088600-79096400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:79088800-79102600	Weak transcription	Ovary	ovary
24	chr15:79089200-79091200	Enhancers	Hela-S3	cervix
25	chr15:79089400-79096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:79089600-79090800	Enhancers	Left Ventricle	heart
27	chr15:79089600-79091200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:79089600-79091400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:79089800-79091000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr15:79089800-79091200	Enhancers	HMEC	breast
31	chr15:79090000-79090800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:79090000-79091000	Enhancers	Placenta	Placenta
33	chr15:79090000-79091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr15:79090000-79091200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:79090000-79091200	Enhancers	Right Atrium	heart
36	chr15:79090000-79096400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:79090200-79090800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:79090200-79091200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:79090200-79091200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:79090200-79091200	Enhancers	NHDF-Ad	bronchial
41	chr15:79090200-79096400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr15:79090200-79101000	Weak transcription	Fetal Lung	lung
43	chr15:79090200-79101000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:79090400-79090800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:79090400-79090800	Flanking Active TSS	HSMM	muscle
46	chr15:79090400-79090800	Flanking Active TSS	HSMMtube	muscle
47	chr15:79090400-79091000	Enhancers	Adipose Nuclei	Adipose
48	chr15:79090400-79091000	Enhancers	NHEK	skin
49	chr15:79090400-79091200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:79090400-79091200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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