Variant report

Variant	rs2514948
Chromosome Location	chr8:119214945-119214946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10098984	0.82[CEU][hapmap]
rs10112097	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10112115	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10505331	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10808496	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10955864	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10955865	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10955866	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11562743	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985780	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12680308	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs13253524	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13270533	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13278792	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2451125	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2451126	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2451128	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2451129	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2451132	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2451135	0.93[ASN][1000 genomes]
rs2451138	0.93[ASN][1000 genomes]
rs2451164	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451165	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2451168	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2451171	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2451172	0.90[ASN][1000 genomes]
rs2451173	0.93[ASN][1000 genomes]
rs2451175	0.96[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2514746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514749	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2514750	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514751	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514752	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514942	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514951	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514953	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514954	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514955	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514957	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514958	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514959	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514960	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2514961	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2514962	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2514963	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2514964	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2514965	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2514966	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2514967	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2514970	0.93[ASN][1000 genomes]
rs4398957	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4876404	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876803	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs901259	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv8379	chr8:119212537-119216545	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv18915	chr8:119214373-119214987	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2514948	TRPS1	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119200800-119218800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119203800-119215200	Weak transcription	Liver	Liver
3	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
4	chr8:119208600-119217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:119209200-119219000	Weak transcription	NHEK	skin
6	chr8:119209600-119219000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:119210400-119216400	Weak transcription	Aorta	Aorta
8	chr8:119211800-119221600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:119213200-119215800	Enhancers	Right Ventricle	heart
10	chr8:119213400-119216600	Enhancers	Fetal Heart	heart
11	chr8:119213600-119223600	Weak transcription	Spleen	Spleen
12	chr8:119213800-119215400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:119213800-119215400	Enhancers	HUVEC	blood vessel
14	chr8:119213800-119215400	Enhancers	NHDF-Ad	bronchial
15	chr8:119213800-119215800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:119214000-119215200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:119214000-119215200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:119214000-119215200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:119214000-119215200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:119214000-119215200	Enhancers	NH-A	brain
21	chr8:119214000-119215400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:119214000-119215400	Enhancers	Adipose Nuclei	Adipose
23	chr8:119214000-119215400	Enhancers	HSMMtube	muscle
24	chr8:119214000-119215400	Enhancers	Osteobl	bone
25	chr8:119214200-119215000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:119214200-119215000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:119214200-119215000	Enhancers	Fetal Muscle Leg	muscle
28	chr8:119214200-119215200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:119214200-119215200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr8:119214200-119215600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:119214200-119216400	Enhancers	Fetal Lung	lung
32	chr8:119214400-119215000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:119214400-119215000	Enhancers	Ovary	ovary
34	chr8:119214400-119215000	Enhancers	HSMM	muscle
35	chr8:119214400-119215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:119214400-119215800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:119214600-119215000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:119214600-119215000	Enhancers	Lung	lung
39	chr8:119214600-119215000	Enhancers	Psoas Muscle	Psoas
40	chr8:119214600-119215000	Enhancers	NHLF	lung
41	chr8:119214600-119215200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:119214600-119215200	Enhancers	Left Ventricle	heart
43	chr8:119214600-119215200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:119214600-119215200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr8:119214600-119215400	Enhancers	Right Atrium	heart
46	chr8:119214800-119222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links