Variant report

Variant	rs4886592
Chromosome Location	chr15:79082547-79082548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11072803	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072804	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072806	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11634450	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11638321	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11639044	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11856536	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11858210	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12050525	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12592721	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12899147	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12903203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1825087	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1994016	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28610385	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2904220	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3825807	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4887113	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7173267	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7177699	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:79069200-79090200	Weak transcription	NHDF-Ad	bronchial
4	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
5	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:79072800-79089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
8	chr15:79074800-79083000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:79076400-79090400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:79076400-79090400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:79076400-79090800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:79077200-79084800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:79077200-79085200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:79077200-79089800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:79077400-79089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:79077600-79084200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:79077600-79087800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:79077800-79090600	Strong transcription	Brain Germinal Matrix	brain
20	chr15:79078000-79083000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:79078000-79083400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr15:79078000-79084000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:79078000-79084200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr15:79078000-79089400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:79078200-79093200	Strong transcription	Fetal Stomach	stomach
26	chr15:79078400-79085000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:79078400-79091800	Weak transcription	Gastric	stomach
28	chr15:79078600-79083600	Strong transcription	Ovary	ovary
29	chr15:79078600-79084000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:79078600-79084000	Strong transcription	Adipose Nuclei	Adipose
31	chr15:79078600-79084600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr15:79078600-79084800	Strong transcription	Fetal Muscle Leg	muscle
33	chr15:79078600-79085000	Strong transcription	HSMMtube	muscle
34	chr15:79078600-79089800	Weak transcription	HMEC	breast
35	chr15:79078600-79090600	Strong transcription	Fetal Brain Female	brain
36	chr15:79079000-79089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:79079400-79091000	Weak transcription	HUVEC	blood vessel
38	chr15:79079600-79090600	Weak transcription	NH-A	brain
39	chr15:79080000-79083800	Strong transcription	Aorta	Aorta
40	chr15:79080200-79083600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr15:79080200-79084800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:79080400-79096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:79080600-79082600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:79080600-79083400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr15:79080600-79087400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr15:79080600-79087400	Weak transcription	Osteobl	bone
47	chr15:79080800-79084400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:79080800-79089400	Weak transcription	NHLF	lung
49	chr15:79080800-79095200	Weak transcription	Fetal Intestine Large	intestine
50	chr15:79081000-79088600	Weak transcription	Placenta	Placenta

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