Variant report

Variant	rs61995500
Chromosome Location	chr14:20771225-20771226
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20769637..20772155-chr14:20772254..20774173,3	K562	blood:
2	chr14:20765245..20767756-chr14:20769308..20771305,2	K562	blood:
3	chr14:20770396..20771996-chr14:20811365..20812904,2	MCF-7	breast:
4	chr14:20770105..20772048-chr14:20773920..20775883,2	MCF-7	breast:
5	chr14:20769637..20771954-chr14:20772645..20774173,2	K562	blood:

Variant related genes	Relation type
ENSG00000259001	Chromatin interaction
ENSG00000129484	Chromatin interaction
ENSG00000258459	Chromatin interaction
ENSG00000136319	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1953550	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002245	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2318863	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436279	0.84[EUR][1000 genomes]
rs3093868	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093871	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3093883	1.00[ASN][1000 genomes]
rs3093894	1.00[ASN][1000 genomes]
rs3093926	1.00[ASN][1000 genomes]
rs45583431	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45622542	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56383558	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58959974	1.00[ASN][1000 genomes]
rs60052229	1.00[ASN][1000 genomes]
rs61993958	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61993959	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995461	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995462	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995463	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995493	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995494	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995495	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995497	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995498	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995503	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995504	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995508	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995509	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995510	0.84[AMR][1000 genomes]
rs61995513	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995534	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995536	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995537	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995538	0.89[AMR][1000 genomes]
rs61995542	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995544	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995545	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61995546	1.00[ASN][1000 genomes]
rs72671246	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671250	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73585150	1.00[ASN][1000 genomes]
rs8010392	1.00[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	chr14:20765200-20771800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:20767400-20771600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:20767400-20773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:20767600-20773200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:20767600-20773400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:20767600-20773400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:20767600-20773400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:20767600-20773400	Weak transcription	HSMMtube	muscle
15	chr14:20767800-20772400	Weak transcription	NHEK	skin
16	chr14:20768000-20773200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:20768400-20773800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:20768800-20773400	Weak transcription	Right Ventricle	heart
19	chr14:20769000-20771600	Weak transcription	Fetal Intestine Small	intestine
20	chr14:20769000-20772600	Weak transcription	Gastric	stomach
21	chr14:20769000-20772600	Weak transcription	Thymus	Thymus
22	chr14:20769000-20773200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr14:20769000-20773200	Weak transcription	NHDF-Ad	bronchial
24	chr14:20769000-20773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:20769000-20773400	Weak transcription	Colonic Mucosa	Colon
26	chr14:20769000-20773400	Weak transcription	Fetal Thymus	thymus
27	chr14:20769000-20773400	Weak transcription	Lung	lung
28	chr14:20769000-20773400	Weak transcription	Spleen	Spleen
29	chr14:20769000-20773600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:20769200-20772600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:20769200-20772600	Weak transcription	HMEC	breast
32	chr14:20769400-20771600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:20769400-20771800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr14:20769400-20772600	Weak transcription	Brain Substantia Nigra	brain
35	chr14:20769600-20772000	Weak transcription	Brain Angular Gyrus	brain
36	chr14:20769600-20772000	Weak transcription	HepG2	liver
37	chr14:20769600-20772800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:20769600-20772800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:20769600-20773200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:20769600-20773200	Weak transcription	Small Intestine	intestine
41	chr14:20769600-20773400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:20769600-20773400	Weak transcription	Placenta	Placenta
43	chr14:20769800-20771400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:20769800-20772600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:20769800-20772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:20769800-20773400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr14:20770000-20772600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:20770000-20772800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:20770000-20773000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:20770000-20773200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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