Variant report

Variant	rs62170067
Chromosome Location	chr2:114502754-114502755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114501133..114502988-chr2:114513074..114515544,2	K562	blood:
2	chr2:114502561..114504312-chr2:114505354..114506970,2	K562	blood:
3	chr2:114502081..114505265-chr2:114506147..114510534,5	K562	blood:
4	chr2:114500995..114503917-chr2:114646360..114648344,2	MCF-7	breast:
5	chr2:114496602..114499777-chr2:114502091..114505139,3	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000270019	Chromatin interaction
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1053413	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12624301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166966	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3748906	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321376	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4372913	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4560122	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58673639	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61270049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62168821	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62168828	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62170075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62170076	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62170102	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72833634	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73955058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs960542	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62170067	RPL23AP7	Cis_1M	lymphoblastoid	RTeQTL
rs62170067	AC017074.2	cis	Skin Sun Exposed Lower leg	GTEx
rs62170067	RABL2A	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114458200-114512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:114461400-114513200	Weak transcription	Small Intestine	intestine
3	chr2:114465200-114512000	Weak transcription	Stomach Mucosa	stomach
4	chr2:114468800-114512800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:114469400-114510400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:114470400-114510800	Strong transcription	HSMM	muscle
8	chr2:114474400-114507600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:114476000-114506600	Weak transcription	Thymus	Thymus
10	chr2:114478800-114504400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:114478800-114507600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:114478800-114510600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114479200-114510400	Strong transcription	Liver	Liver
14	chr2:114479800-114507000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:114480000-114504000	Strong transcription	Primary B cells from cord blood	blood
16	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:114483000-114506600	Weak transcription	Psoas Muscle	Psoas
18	chr2:114484000-114511200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:114484400-114510600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
21	chr2:114485200-114503600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:114485200-114506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:114485200-114511200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:114486200-114503600	Weak transcription	Lung	lung
25	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:114492800-114504400	Strong transcription	NH-A	brain
29	chr2:114493800-114504000	Strong transcription	Left Ventricle	heart
30	chr2:114494200-114510400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:114494200-114510600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:114494200-114511000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:114494400-114509400	Strong transcription	Adipose Nuclei	Adipose
34	chr2:114494400-114511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:114494400-114511600	Strong transcription	Osteobl	bone
36	chr2:114494600-114503600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:114494600-114504000	Strong transcription	Fetal Brain Female	brain
38	chr2:114494600-114504000	Strong transcription	Fetal Intestine Large	intestine
39	chr2:114494600-114504200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:114494600-114504600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:114494600-114504600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:114494600-114505200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:114494600-114506000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:114494600-114507000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:114494600-114510400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:114494800-114507200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:114494800-114510200	Strong transcription	HepG2	liver
48	chr2:114495000-114508800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:114495400-114509200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr2:114495800-114504000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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