Variant report

Variant	rs56339806
Chromosome Location	chr14:78178129-78178130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:78177596-78178199	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:78177941-78178355	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:78177920-78178788	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ALKBH1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11621162	0.87[AFR][1000 genomes]
rs11621593	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622293	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11622411	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11622449	0.87[AFR][1000 genomes]
rs11623898	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11624052	0.87[AFR][1000 genomes]
rs11624063	0.87[AFR][1000 genomes]
rs11625029	0.87[AFR][1000 genomes]
rs11625607	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11625647	0.87[AFR][1000 genomes]
rs11626900	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11628795	0.87[AFR][1000 genomes]
rs11850235	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752726	0.87[AFR][1000 genomes]
rs17825434	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17825458	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17825620	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1985149	1.00[ASN][1000 genomes]
rs2003594	1.00[ASN][1000 genomes]
rs2032745	0.82[AFR][1000 genomes]
rs2111829	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112135	0.87[AFR][1000 genomes]
rs28393221	0.92[ASN][1000 genomes]
rs45444693	0.81[AMR][1000 genomes]
rs45465691	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55922310	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55995783	0.81[AMR][1000 genomes]
rs56003103	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56060413	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6493	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6494	0.87[AFR][1000 genomes]
rs7140838	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7148685	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7151836	1.00[ASN][1000 genomes]
rs7155062	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685236	1.00[ASN][1000 genomes]
rs72685238	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685244	0.87[AFR][1000 genomes]
rs72685246	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685260	0.87[AFR][1000 genomes]
rs72685267	1.00[ASN][1000 genomes]
rs72685273	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685280	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685281	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685293	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685296	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685300	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72685302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687205	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687216	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687217	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72687218	0.87[AFR][1000 genomes]
rs72687223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687228	0.87[AFR][1000 genomes]
rs72687229	0.87[AFR][1000 genomes]
rs72687241	1.00[ASN][1000 genomes]
rs72687246	0.87[AFR][1000 genomes]
rs72687247	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687250	0.87[AFR][1000 genomes]
rs72687251	0.87[AFR][1000 genomes]
rs72687256	1.00[ASN][1000 genomes]
rs72687261	0.87[AFR][1000 genomes]
rs72688829	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72688836	0.92[ASN][1000 genomes]
rs7492501	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8015313	0.87[AFR][1000 genomes]
rs8015796	1.00[ASN][1000 genomes]
rs8015938	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	chr14:78175800-78179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:78176000-78179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:78176200-78179800	Strong transcription	Primary hematopoietic stem cells	blood
7	chr14:78176200-78185400	Weak transcription	Fetal Heart	heart
8	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
13	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:78176600-78179400	Strong transcription	Lung	lung
16	chr14:78176600-78179800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:78176600-78180000	Strong transcription	NHDF-Ad	bronchial
18	chr14:78176600-78180400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:78176600-78181000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:78176600-78182000	Strong transcription	Primary T cells from cord blood	blood
21	chr14:78176600-78182400	Strong transcription	HUVEC	blood vessel
22	chr14:78176600-78187200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr14:78176600-78187200	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr14:78176600-78197400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:78176600-78204600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:78176600-78205200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr14:78176600-78205400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:78176600-78205600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:78176600-78205600	Strong transcription	Adipose Nuclei	Adipose
30	chr14:78176600-78205800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
33	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:78176800-78178600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:78176800-78178800	Strong transcription	Fetal Brain Female	brain
36	chr14:78176800-78179400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:78176800-78179600	Strong transcription	Ovary	ovary
38	chr14:78176800-78180600	Strong transcription	Fetal Lung	lung
39	chr14:78176800-78181800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:78176800-78181800	Strong transcription	NHEK	skin
41	chr14:78176800-78182000	Strong transcription	Primary B cells from cord blood	blood
42	chr14:78176800-78182000	Strong transcription	NH-A	brain
43	chr14:78176800-78182200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:78176800-78182400	Strong transcription	A549	lung
45	chr14:78176800-78183800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:78176800-78190200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:78176800-78191400	Weak transcription	Fetal Brain Male	brain
48	chr14:78176800-78192800	Strong transcription	Osteobl	bone
49	chr14:78176800-78205200	Strong transcription	Stomach Smooth Muscle	stomach
50	chr14:78176800-78205600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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