Variant report

Variant	rs10148762
Chromosome Location	chr14:39765378-39765379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10130584	0.81[EUR][1000 genomes]
rs10130959	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap]
rs10135713	0.81[EUR][1000 genomes]
rs10142118	0.90[EUR][1000 genomes]
rs10143290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10144680	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10148678	0.90[EUR][1000 genomes]
rs10150863	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1040811	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10483539	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10782392	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10872919	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11157055	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11844333	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11844337	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs12434446	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2025029	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2038357	0.93[TSI][hapmap]
rs2094275	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2099409	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2117338	0.90[EUR][1000 genomes]
rs2274398	0.85[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2415548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3783292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4899219	0.82[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs4899237	0.87[CHD][hapmap];1.00[JPT][hapmap]
rs4902402	0.93[TSI][hapmap]
rs4902500	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6571914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571916	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571917	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571918	0.91[EUR][1000 genomes]
rs6571934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7140561	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap]
rs7149131	1.00[JPT][hapmap]
rs7151017	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7158633	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7159584	0.85[EUR][1000 genomes]
rs8010145	0.83[AMR][1000 genomes]
rs8010635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs8010826	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs8011855	0.93[TSI][hapmap]
rs8012235	0.90[EUR][1000 genomes]
rs8019161	1.00[CEU][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9322993	0.92[TSI][hapmap]

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	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv977461	chr14:39762414-39770640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:39739800-39766400	Weak transcription	Aorta	Aorta
4	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
5	chr14:39746200-39776600	Weak transcription	K562	blood
6	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
7	chr14:39749400-39766400	Weak transcription	Right Ventricle	heart
8	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:39749600-39771200	Weak transcription	Fetal Kidney	kidney
10	chr14:39752600-39769000	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
12	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:39755400-39783400	Strong transcription	Liver	Liver
14	chr14:39755600-39767600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr14:39755600-39780400	Strong transcription	HepG2	liver
16	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:39756200-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
20	chr14:39756400-39773200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:39756400-39774000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:39756800-39771200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:39757200-39773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:39757400-39771200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:39758400-39767600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:39758600-39767400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:39758800-39766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:39759400-39770200	Weak transcription	Colonic Mucosa	Colon
34	chr14:39759400-39801800	Weak transcription	NHLF	lung
35	chr14:39760000-39775800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr14:39760600-39765600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:39760600-39767400	Strong transcription	Adipose Nuclei	Adipose
38	chr14:39760600-39767400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:39760800-39771200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:39761000-39775200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr14:39761600-39773400	Strong transcription	Fetal Intestine Large	intestine
42	chr14:39761800-39771800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:39762000-39765600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr14:39762200-39767000	Strong transcription	Osteobl	bone
45	chr14:39762200-39774200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:39762400-39765400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:39762400-39765400	Strong transcription	Hela-S3	cervix
48	chr14:39762400-39765800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
50	chr14:39762600-39772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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