Variant report

Variant	rs74053638
Chromosome Location	chr14:56096686-56096687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56095717..56097312-chr14:56110049..56112012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1951888	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1951891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56322135	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56723444	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59821184	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74051603	0.81[AFR][1000 genomes]
rs74053630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053645	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053656	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053658	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053660	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74053661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009454	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
2	chr14:56079800-56111400	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:56080200-56097800	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:56080800-56110800	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:56087400-56111800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:56087400-56112200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:56087400-56132200	Strong transcription	Dnd41	blood
8	chr14:56087600-56099000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr14:56087600-56099400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:56087600-56100400	Weak transcription	Right Ventricle	heart
11	chr14:56087600-56100600	Weak transcription	Fetal Intestine Small	intestine
12	chr14:56087600-56101400	Weak transcription	Pancreas	Pancrea
13	chr14:56087600-56107400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:56087600-56110000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:56087600-56145200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:56088000-56096800	Weak transcription	Small Intestine	intestine
17	chr14:56088000-56096800	Weak transcription	NHLF	lung
18	chr14:56088000-56101200	Weak transcription	Esophagus	oesophagus
19	chr14:56088000-56101600	Weak transcription	Fetal Brain Male	brain
20	chr14:56088000-56103600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:56088200-56098600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:56088200-56104000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:56088200-56108600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:56088200-56129400	Weak transcription	Spleen	Spleen
25	chr14:56088200-56132200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:56088400-56096800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:56088400-56103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:56088400-56121600	Weak transcription	Aorta	Aorta
29	chr14:56088400-56121800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:56088400-56153200	Weak transcription	Gastric	stomach
31	chr14:56088600-56096800	Weak transcription	Fetal Brain Female	brain
32	chr14:56088600-56101400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr14:56088600-56103600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:56090400-56101400	Weak transcription	Brain Germinal Matrix	brain
35	chr14:56090800-56107000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:56091200-56104800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:56091600-56100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:56091600-56102000	Weak transcription	Colonic Mucosa	Colon
39	chr14:56091800-56096800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:56091800-56096800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:56091800-56096800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:56091800-56096800	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:56091800-56100400	Weak transcription	Lung	lung
44	chr14:56091800-56101400	Weak transcription	Brain Angular Gyrus	brain
45	chr14:56092000-56096800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:56092000-56100600	Weak transcription	Fetal Stomach	stomach
47	chr14:56092000-56101200	Weak transcription	Psoas Muscle	Psoas
48	chr14:56092800-56096800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:56092800-56099200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:56092800-56135400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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