Variant report

Variant	rs10144680
Chromosome Location	chr14:39755899-39755900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10130959	0.81[ASN][1000 genomes]
rs10135713	0.80[AMR][1000 genomes]
rs10142118	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10143290	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10148678	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10148762	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10150863	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1040811	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10483539	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10782392	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10872919	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11157055	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12434446	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2025029	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099409	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2117338	0.83[EUR][1000 genomes]
rs2274398	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3783292	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4899219	0.85[EUR][1000 genomes]
rs4902500	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6571914	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571916	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571917	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571918	0.85[EUR][1000 genomes]
rs7140561	0.81[ASN][1000 genomes]
rs7143289	0.81[ASN][1000 genomes]
rs7158558	0.81[ASN][1000 genomes]
rs7158633	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7159584	0.81[ASN][1000 genomes]
rs8010145	0.85[AMR][1000 genomes]
rs8010635	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8012235	0.83[EUR][1000 genomes]
rs8019161	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39737800-39763800	Weak transcription	Gastric	stomach
2	chr14:39738000-39763800	Weak transcription	HSMM	muscle
3	chr14:39738200-39759200	Weak transcription	NH-A	brain
4	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
5	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
6	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
10	chr14:39739200-39764000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:39739400-39758200	Weak transcription	NHEK	skin
12	chr14:39739800-39763400	Weak transcription	Lung	lung
13	chr14:39739800-39766400	Weak transcription	Aorta	Aorta
14	chr14:39741200-39764200	Weak transcription	Spleen	Spleen
15	chr14:39742000-39763400	Weak transcription	Esophagus	oesophagus
16	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
17	chr14:39745400-39760600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:39745400-39764000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:39745600-39764000	Weak transcription	HMEC	breast
20	chr14:39746200-39758000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:39746200-39776600	Weak transcription	K562	blood
22	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
23	chr14:39747200-39763800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:39747800-39763600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:39749400-39756400	Weak transcription	Thymus	Thymus
26	chr14:39749400-39760200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:39749400-39763400	Weak transcription	Left Ventricle	heart
28	chr14:39749400-39763800	Weak transcription	Small Intestine	intestine
29	chr14:39749400-39764000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:39749400-39764200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:39749400-39766400	Weak transcription	Right Ventricle	heart
32	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:39749600-39763400	Weak transcription	Placenta	Placenta
34	chr14:39749600-39763800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr14:39749600-39763800	Weak transcription	Brain Substantia Nigra	brain
36	chr14:39749600-39765200	Weak transcription	HUVEC	blood vessel
37	chr14:39749600-39771200	Weak transcription	Fetal Kidney	kidney
38	chr14:39750800-39757000	Weak transcription	Primary B cells from cord blood	blood
39	chr14:39750800-39762400	Weak transcription	Hela-S3	cervix
40	chr14:39752000-39756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:39752200-39756000	Weak transcription	Ovary	ovary
42	chr14:39752200-39763800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:39752400-39756200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:39752400-39763200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:39752400-39763600	Weak transcription	GM12878-XiMat	blood
46	chr14:39752400-39763800	Weak transcription	Brain Anterior Caudate	brain
47	chr14:39752600-39758400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr14:39752600-39758800	Weak transcription	Colonic Mucosa	Colon
49	chr14:39752600-39760600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:39752600-39762400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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