Variant report

Variant	rs59217746
Chromosome Location	chr14:104104763-104104764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104089914..104092902-chr14:104103042..104105826,2	K562	blood:
2	chr14:104102424..104105194-chr14:104313193..104314702,2	MCF-7	breast:
3	chr14:104104603..104106806-chr14:104111937..104114817,2	MCF-7	breast:
4	chr14:104093958..104099229-chr14:104101550..104106033,7	K562	blood:
5	chr14:103987449..103989148-chr14:104103898..104105853,2	K562	blood:

Variant related genes	Relation type
ENSG00000088808	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000258735	Chromatin interaction
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10134399	0.87[ASN][1000 genomes]
rs10145755	0.94[ASN][1000 genomes]
rs11624505	0.98[ASN][1000 genomes]
rs11627794	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11849259	0.93[ASN][1000 genomes]
rs3783404	0.94[ASN][1000 genomes]
rs55885592	0.94[ASN][1000 genomes]
rs56017123	0.84[ASN][1000 genomes]
rs56660916	0.94[ASN][1000 genomes]
rs57218990	0.94[ASN][1000 genomes]
rs58133129	0.98[ASN][1000 genomes]
rs61995780	0.94[ASN][1000 genomes]
rs61996723	0.87[AMR][1000 genomes]
rs68087451	0.96[ASN][1000 genomes]
rs8003090	0.87[ASN][1000 genomes]
rs8018979	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59217746	CKB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104096600-104118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:104097400-104105000	Weak transcription	Fetal Lung	lung
3	chr14:104097400-104107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:104097400-104107800	Strong transcription	Fetal Stomach	stomach
5	chr14:104097400-104117800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:104097400-104119400	Weak transcription	HSMMtube	muscle
7	chr14:104097400-104120000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr14:104097400-104120000	Weak transcription	HUVEC	blood vessel
9	chr14:104097400-104120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:104097400-104120200	Weak transcription	Colonic Mucosa	Colon
11	chr14:104097400-104120200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:104097400-104120400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:104097400-104120400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:104097400-104120800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:104097400-104156600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:104097600-104106200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:104098600-104119200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:104098600-104119800	Weak transcription	K562	blood
19	chr14:104099200-104104800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:104099200-104120200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:104100000-104119400	Weak transcription	Placenta	Placenta
22	chr14:104101000-104105000	Weak transcription	Esophagus	oesophagus
23	chr14:104101000-104107400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:104101000-104120200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:104101200-104120600	Weak transcription	Brain Germinal Matrix	brain
26	chr14:104101400-104104800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:104101400-104107400	Weak transcription	Fetal Brain Female	brain
28	chr14:104101600-104119400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:104101800-104105200	Enhancers	Primary T cells fromperipheralblood	blood
30	chr14:104101800-104120800	Weak transcription	Hela-S3	cervix
31	chr14:104102400-104106000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:104102600-104104800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:104102600-104111600	Weak transcription	Primary T cells from cord blood	blood
34	chr14:104102600-104120000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:104102800-104107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr14:104102800-104118400	Weak transcription	Primary B cells from cord blood	blood
37	chr14:104103000-104104800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:104103000-104119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:104103000-104119400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:104103200-104105000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:104103200-104106000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:104103400-104105200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:104103600-104104800	Enhancers	Liver	Liver
44	chr14:104103600-104105400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:104103800-104105400	Strong transcription	NHEK	skin
46	chr14:104104000-104104800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:104104000-104104800	Strong transcription	HepG2	liver
48	chr14:104104000-104105000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:104104000-104105000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:104104000-104105000	Genic enhancers	NHDF-Ad	bronchial

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