Variant report

Variant	rs176945
Chromosome Location	chr14:78177653-78177654
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10133987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10134175	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10141070	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10483887	1.00[CEU][hapmap]
rs11159286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12882571	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106419	1.00[CEU][hapmap]
rs17106425	1.00[CEU][hapmap]
rs17106489	1.00[CEU][hapmap]
rs17106503	1.00[CEU][hapmap]
rs176942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176958	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs176967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2287647	1.00[CEU][hapmap]
rs28481884	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28640141	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28648386	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4622441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903625	0.97[ASN][1000 genomes]
rs61990714	0.80[ASN][1000 genomes]
rs6574389	1.00[ASN][1000 genomes]
rs7144053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145859	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7148286	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7151514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr14:78175400-78180400	Weak transcription	Gastric	stomach
2	chr14:78175600-78180400	Weak transcription	Aorta	Aorta
3	chr14:78175600-78182200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:78175800-78177800	Weak transcription	Colonic Mucosa	Colon
5	chr14:78175800-78178000	Weak transcription	Right Ventricle	heart
6	chr14:78175800-78179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:78176000-78178000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:78176000-78179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr14:78176200-78178000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:78176200-78179800	Strong transcription	Primary hematopoietic stem cells	blood
11	chr14:78176200-78185400	Weak transcription	Fetal Heart	heart
12	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:78176400-78177800	Weak transcription	Fetal Kidney	kidney
17	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
18	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:78176600-78179400	Strong transcription	Lung	lung
21	chr14:78176600-78179800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:78176600-78180000	Strong transcription	NHDF-Ad	bronchial
23	chr14:78176600-78180400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr14:78176600-78181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:78176600-78182000	Strong transcription	Primary T cells from cord blood	blood
26	chr14:78176600-78182400	Strong transcription	HUVEC	blood vessel
27	chr14:78176600-78187200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr14:78176600-78187200	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
35	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:78176800-78178600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:78176800-78178800	Strong transcription	Fetal Brain Female	brain
41	chr14:78176800-78179400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:78176800-78179600	Strong transcription	Ovary	ovary
43	chr14:78176800-78180600	Strong transcription	Fetal Lung	lung
44	chr14:78176800-78181800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:78176800-78181800	Strong transcription	NHEK	skin
46	chr14:78176800-78182000	Strong transcription	Primary B cells from cord blood	blood
47	chr14:78176800-78182000	Strong transcription	NH-A	brain
48	chr14:78176800-78182200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:78176800-78182400	Strong transcription	A549	lung
50	chr14:78176800-78183800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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