Variant report

Variant	rs3093897
Chromosome Location	chr14:20817133-20817134
allele	C/G
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:41)

rs_ID	r²[population]
rs10129957	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10130660	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10147163	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10148359	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11622655	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12323412	0.84[EUR][1000 genomes]
rs12323610	0.87[EUR][1000 genomes]
rs12891805	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1889362	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2297616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2700	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3093882	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3093890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3093900	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3093902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3093904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3093907	0.92[ASN][1000 genomes]
rs3093909	0.92[ASN][1000 genomes]
rs3093933	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3093942	0.88[AMR][1000 genomes]
rs34848586	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4415933	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4981150	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981153	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981158	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4981957	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981983	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4981998	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57101853	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58530849	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59821173	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6575124	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6575135	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7152084	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7161611	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8009242	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8014147	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8022565	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs878157	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs884368	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9323870	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
2	chr14:20812000-20822600	Weak transcription	Gastric	stomach
3	chr14:20812200-20817800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
5	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
6	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
7	chr14:20812400-20818000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:20812400-20820400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
10	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:20812600-20817200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:20812600-20817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:20812600-20817200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:20812600-20817600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:20812600-20817800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:20812600-20817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:20812600-20817800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr14:20812600-20818000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:20812600-20820200	Weak transcription	Colonic Mucosa	Colon
20	chr14:20812600-20820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:20812600-20820600	Weak transcription	Psoas Muscle	Psoas
22	chr14:20812600-20820600	Weak transcription	Right Ventricle	heart
23	chr14:20812600-20820800	Weak transcription	NHDF-Ad	bronchial
24	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
26	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:20812800-20818400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:20812800-20820600	Weak transcription	NHLF	lung
32	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:20813200-20819800	Strong transcription	Fetal Kidney	kidney
38	chr14:20813200-20820800	Weak transcription	Fetal Brain Male	brain
39	chr14:20813200-20821600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:20813200-20824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:20813200-20824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
44	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:20813200-20826600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:20813200-20826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:20813200-20827000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:20813200-20827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr14:20813200-20827400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:20813200-20827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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