Variant report

Variant	rs4848345
Chromosome Location	chr2:114510683-114510684
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114509032..114512220-chr2:114645424..114649150,4	K562	blood:
2	chr2:114486595..114488482-chr2:114509848..114512197,2	K562	blood:
3	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:

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

Extended variants
information (count: 33 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10167730	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10172842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10177576	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10179657	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10209098	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123207	0.82[AMR][1000 genomes]
rs11686297	0.82[AMR][1000 genomes]
rs11694130	0.82[AMR][1000 genomes]
rs12711788	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1375332	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2122097	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2290108	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305255	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2442136	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2687627	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28451366	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2900744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36062527	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3816384	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3890789	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848343	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848349	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4849270	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849275	0.82[AMR][1000 genomes]
rs4849277	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4849279	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711542	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7560480	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7577893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7600228	0.85[AMR][1000 genomes];0.89[EUR][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	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
2	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
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4848345	RPL23AP7	cis	Artery Aorta	GTEx
rs4848345	DDX11L2	cis	Whole Blood	GTEx
rs4848345	RPL23AP7	cis	Whole Blood	GTEx
rs4848345	RPL23AP7	cis	Artery Tibial	GTEx
rs4848345	RPL23AP7	cis	Muscle Skeletal	GTEx
rs4848345	RPL23AP7	cis	lung	GTEx
rs4848345	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs4848345	RPL23AP7	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 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	chr2:114470200-114511200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:114470400-114510800	Strong transcription	HSMM	muscle
7	chr2:114481200-114513000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:114484000-114511200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:114484600-114512600	Weak transcription	Aorta	Aorta
10	chr2:114485200-114511200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:114487200-114513200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:114488400-114512600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:114492200-114513000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:114494200-114511000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:114494400-114511200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:114494400-114511600	Strong transcription	Osteobl	bone
17	chr2:114495800-114511200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:114495800-114512200	Weak transcription	Fetal Heart	heart
19	chr2:114498400-114511400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:114499200-114512600	Weak transcription	Esophagus	oesophagus
21	chr2:114500600-114512600	Weak transcription	Hela-S3	cervix
22	chr2:114501400-114512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:114502000-114512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:114502200-114513000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:114503800-114512000	Weak transcription	Fetal Brain Male	brain
26	chr2:114504000-114512000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:114504000-114512600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:114504200-114512200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:114504400-114511800	Strong transcription	Fetal Intestine Small	intestine
30	chr2:114504600-114512600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:114505000-114513000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:114505000-114513200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:114505200-114512000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:114505600-114512000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:114505800-114511000	Strong transcription	Fetal Intestine Large	intestine
36	chr2:114506000-114512000	Weak transcription	NHEK	skin
37	chr2:114506000-114512200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:114506800-114512800	Weak transcription	Colonic Mucosa	Colon
39	chr2:114507000-114512000	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:114507000-114512000	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:114507000-114512000	Weak transcription	Fetal Kidney	kidney
42	chr2:114507000-114512000	Weak transcription	HSMMtube	muscle
43	chr2:114507000-114512600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:114507000-114512600	Weak transcription	Right Ventricle	heart
45	chr2:114507000-114512800	Weak transcription	Fetal Thymus	thymus
46	chr2:114507000-114513000	Weak transcription	Gastric	stomach
47	chr2:114507000-114513000	Weak transcription	Pancreas	Pancrea
48	chr2:114507000-114513400	Weak transcription	Spleen	Spleen
49	chr2:114507400-114512600	Weak transcription	Psoas Muscle	Psoas
50	chr2:114508000-114510800	Strong transcription	Primary B cells from cord blood	blood

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