Variant report

Variant	rs2184670
Chromosome Location	chr14:20772169-20772170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11159867	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623831	0.82[ASN][1000 genomes]
rs1889363	0.82[ASN][1000 genomes]
rs28436942	0.81[ASN][1000 genomes]
rs61995501	0.99[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6575168	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv869984	chr14:20732655-20776216	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20746600-20773200	Weak transcription	Stomach Mucosa	stomach
2	chr14:20749200-20773400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:20758000-20773200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:20760200-20772800	Weak transcription	Fetal Heart	heart
5	chr14:20763600-20772400	Weak transcription	Hela-S3	cervix
6	chr14:20764200-20773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:20767400-20773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:20767600-20773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:20767600-20773400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:20767600-20773400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:20767600-20773400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:20767600-20773400	Weak transcription	HSMMtube	muscle
13	chr14:20767800-20772400	Weak transcription	NHEK	skin
14	chr14:20768000-20773200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:20768400-20773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:20768800-20773400	Weak transcription	Right Ventricle	heart
17	chr14:20769000-20772600	Weak transcription	Gastric	stomach
18	chr14:20769000-20772600	Weak transcription	Thymus	Thymus
19	chr14:20769000-20773200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:20769000-20773200	Weak transcription	NHDF-Ad	bronchial
21	chr14:20769000-20773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:20769000-20773400	Weak transcription	Colonic Mucosa	Colon
23	chr14:20769000-20773400	Weak transcription	Fetal Thymus	thymus
24	chr14:20769000-20773400	Weak transcription	Lung	lung
25	chr14:20769000-20773400	Weak transcription	Spleen	Spleen
26	chr14:20769000-20773600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:20769200-20772600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:20769200-20772600	Weak transcription	HMEC	breast
29	chr14:20769400-20772600	Weak transcription	Brain Substantia Nigra	brain
30	chr14:20769600-20772800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:20769600-20772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:20769600-20773200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr14:20769600-20773200	Weak transcription	Small Intestine	intestine
34	chr14:20769600-20773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:20769600-20773400	Weak transcription	Placenta	Placenta
36	chr14:20769800-20772600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:20769800-20772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:20769800-20773400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:20770000-20772600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:20770000-20772800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr14:20770000-20773000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:20770000-20773200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:20770000-20773200	Weak transcription	Fetal Kidney	kidney
44	chr14:20770000-20773200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:20770200-20772400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:20770200-20772600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:20770200-20772600	Weak transcription	Fetal Lung	lung
48	chr14:20770200-20772600	Weak transcription	Psoas Muscle	Psoas
49	chr14:20770200-20772800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:20770200-20772800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links