Variant report

Variant	rs3784243
Chromosome Location	chr14:20780503-20780504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17242578	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17308324	0.93[ASN][1000 genomes]
rs28436279	0.94[ASN][1000 genomes]
rs56960933	0.93[ASN][1000 genomes]
rs61995535	0.91[ASN][1000 genomes]
rs6575166	0.91[ASN][1000 genomes]
rs6575167	0.93[ASN][1000 genomes]
rs7140961	0.91[ASN][1000 genomes]
rs7149338	0.93[ASN][1000 genomes]
rs7153417	0.93[ASN][1000 genomes]
rs8009806	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9671309	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20780600	Weak transcription	Colonic Mucosa	Colon
2	chr14:20774200-20780600	Weak transcription	Hela-S3	cervix
3	chr14:20774200-20780800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:20774200-20780800	Weak transcription	NHLF	lung
5	chr14:20774200-20781000	Weak transcription	Primary T cells from cord blood	blood
6	chr14:20774200-20781000	Weak transcription	Fetal Lung	lung
7	chr14:20774200-20781200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr14:20774200-20781200	Weak transcription	Placenta	Placenta
9	chr14:20774200-20781400	Weak transcription	Primary B cells from cord blood	blood
10	chr14:20774200-20781400	Weak transcription	Esophagus	oesophagus
11	chr14:20774200-20781400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:20774200-20781400	Weak transcription	Psoas Muscle	Psoas
13	chr14:20774200-20781600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:20774200-20781600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:20774200-20784000	Weak transcription	Fetal Intestine Small	intestine
16	chr14:20774200-20784000	Weak transcription	Right Ventricle	heart
17	chr14:20774200-20784400	Weak transcription	Aorta	Aorta
18	chr14:20774200-20785000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:20774200-20785000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:20774200-20785400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:20774200-20785400	Weak transcription	Thymus	Thymus
22	chr14:20774200-20785400	Weak transcription	Spleen	Spleen
23	chr14:20774200-20785600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:20774200-20785800	Weak transcription	Gastric	stomach
25	chr14:20774200-20786000	Weak transcription	Pancreas	Pancrea
26	chr14:20774200-20795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:20774200-20795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:20774200-20795600	Weak transcription	Fetal Heart	heart
29	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
32	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
33	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
36	chr14:20774400-20780600	Weak transcription	Brain Angular Gyrus	brain
37	chr14:20774400-20781400	Weak transcription	Brain Anterior Caudate	brain
38	chr14:20774400-20781400	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:20774400-20781400	Weak transcription	Brain Substantia Nigra	brain
40	chr14:20774400-20781400	Weak transcription	Fetal Brain Female	brain
41	chr14:20774400-20784400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:20774400-20787200	Weak transcription	Brain Germinal Matrix	brain
43	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:20779000-20795600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:20779400-20781800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:20779400-20782200	Strong transcription	Fetal Stomach	stomach
47	chr14:20779400-20787000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr14:20779400-20788400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:20779400-20788600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr14:20779400-20788800	Strong transcription	Primary T cells fromperipheralblood	blood

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