Variant report

Variant	rs73254588
Chromosome Location	chr14:31207350-31207351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs17348231	0.84[EUR][1000 genomes]
rs17348259	1.00[EUR][1000 genomes]
rs17362475	1.00[EUR][1000 genomes]
rs17363198	1.00[EUR][1000 genomes]
rs17433265	1.00[EUR][1000 genomes]
rs1884582	1.00[EUR][1000 genomes]
rs28483238	1.00[EUR][1000 genomes]
rs45531233	1.00[EUR][1000 genomes]
rs57216699	0.97[AFR][1000 genomes]
rs57549139	0.83[AFR][1000 genomes]
rs57618174	0.83[AFR][1000 genomes]
rs57677010	0.83[AFR][1000 genomes]
rs58653311	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60350877	0.83[AFR][1000 genomes]
rs60353606	0.83[AFR][1000 genomes]
rs60362029	0.83[AFR][1000 genomes]
rs60727186	1.00[AFR][1000 genomes]
rs7157286	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251132	0.83[AFR][1000 genomes]
rs73251134	0.83[AFR][1000 genomes]
rs73251145	0.83[AFR][1000 genomes]
rs73251146	0.83[AFR][1000 genomes]
rs73251151	0.97[AFR][1000 genomes]
rs73251156	0.97[AFR][1000 genomes]
rs73251167	0.90[AFR][1000 genomes]
rs73251169	0.97[AFR][1000 genomes]
rs73251177	0.97[AFR][1000 genomes]
rs73251179	0.97[AFR][1000 genomes]
rs73251181	0.97[AFR][1000 genomes]
rs73251184	0.97[AFR][1000 genomes]
rs73251188	0.97[AFR][1000 genomes]
rs73251199	1.00[AFR][1000 genomes]
rs73253017	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254546	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254548	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254552	1.00[AFR][1000 genomes]
rs73254553	1.00[AFR][1000 genomes]
rs73254554	1.00[AFR][1000 genomes]
rs73254555	1.00[AFR][1000 genomes]
rs73254556	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254558	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254560	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73254562	1.00[EUR][1000 genomes]
rs73254565	1.00[AFR][1000 genomes]
rs73254568	1.00[AFR][1000 genomes]
rs73254580	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254583	1.00[AFR][1000 genomes]
rs73254586	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254589	1.00[AFR][1000 genomes]
rs73255979	0.83[AFR][1000 genomes]
rs73255992	0.83[AFR][1000 genomes]
rs73258111	0.83[AFR][1000 genomes]
rs73258118	0.83[AFR][1000 genomes]
rs73258119	0.83[AFR][1000 genomes]
rs73264309	0.83[AFR][1000 genomes]
rs73264311	0.83[AFR][1000 genomes]
rs73264321	0.83[AFR][1000 genomes]
rs73264329	0.83[AFR][1000 genomes]
rs73264330	0.83[AFR][1000 genomes]
rs73264333	0.83[AFR][1000 genomes]
rs73264341	0.83[AFR][1000 genomes]
rs73264346	0.83[AFR][1000 genomes]
rs73264352	0.83[AFR][1000 genomes]
rs73264362	0.83[AFR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:31165000-31208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
5	chr14:31168200-31208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:31179000-31207400	Weak transcription	Fetal Kidney	kidney
7	chr14:31193000-31207800	Weak transcription	A549	lung
8	chr14:31196000-31207400	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:31196000-31208800	Weak transcription	HUVEC	blood vessel
10	chr14:31196200-31208600	Weak transcription	Spleen	Spleen
11	chr14:31196400-31208400	Weak transcription	Lung	lung
12	chr14:31196400-31216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:31197600-31207800	Weak transcription	K562	blood
14	chr14:31197600-31208000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:31199400-31208200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31199400-31208600	Weak transcription	Fetal Stomach	stomach
17	chr14:31199400-31209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:31199400-31213400	Weak transcription	Brain Substantia Nigra	brain
19	chr14:31202400-31208200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:31203200-31207400	Weak transcription	Fetal Intestine Small	intestine
21	chr14:31203200-31207600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:31203200-31207800	Weak transcription	Ovary	ovary
23	chr14:31203600-31208400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:31204600-31207600	Weak transcription	Left Ventricle	heart
25	chr14:31204800-31207800	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:31205800-31207400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr14:31205800-31207400	Weak transcription	GM12878-XiMat	blood
28	chr14:31205800-31207600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:31205800-31208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:31205800-31209200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:31206000-31207600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:31206000-31207600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:31206000-31207600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr14:31206000-31207600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:31206000-31207600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:31206000-31207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:31206000-31207600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr14:31206000-31207600	Weak transcription	Fetal Lung	lung
39	chr14:31206000-31207800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:31206000-31208600	Weak transcription	NHDF-Ad	bronchial
41	chr14:31206000-31209000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:31206000-31210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:31206000-31210200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:31206000-31213000	Weak transcription	HSMMtube	muscle
45	chr14:31206200-31207800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:31206200-31207800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:31206200-31207800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:31206200-31207800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:31206200-31207800	Weak transcription	Primary B cells from cord blood	blood
50	chr14:31206200-31207800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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