Variant report

Variant	rs2431514
Chromosome Location	chr5:112131288-112131289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112123801..112127041-chr5:112128309..112132302,4	K562	blood:
2	chr5:112123613..112127041-chr5:112129146..112132302,3	K562	blood:
3	chr5:112129867..112132143-chr5:112136582..112139044,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10073398	0.81[EUR][1000 genomes]
rs11241182	0.80[AFR][1000 genomes]
rs11241183	0.83[AMR][1000 genomes]
rs11241184	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11241185	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11954856	0.81[EUR][1000 genomes]
rs12518091	0.81[AMR][1000 genomes]
rs12659119	0.82[EUR][1000 genomes]
rs1816769	0.83[EUR][1000 genomes]
rs1914	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2020383	0.80[EUR][1000 genomes]
rs2229992	0.82[ASN][1000 genomes]
rs2251913	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253987	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2289484	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2431239	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2431241	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2431242	0.83[EUR][1000 genomes]
rs2431512	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2439589	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2464803	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2545158	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2546106	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2546107	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2546108	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2546110	0.87[ASN][1000 genomes]
rs2546117	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2707763	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2707765	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28578275	0.84[AMR][1000 genomes]
rs2901844	0.83[AMR][1000 genomes]
rs2909786	0.83[EUR][1000 genomes]
rs2909787	0.83[EUR][1000 genomes]
rs2909958	0.83[EUR][1000 genomes]
rs35130225	0.82[EUR][1000 genomes]
rs351772	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35414976	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs390092	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs396321	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4099181	0.81[EUR][1000 genomes]
rs414098	0.84[AMR][1000 genomes]
rs458906	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs467033	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4705486	0.83[AMR][1000 genomes]
rs4705624	0.82[AMR][1000 genomes]
rs511906	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs518013	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs548710	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs569940	0.82[EUR][1000 genomes]
rs62364017	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6594646	0.81[AMR][1000 genomes]
rs6867243	0.82[EUR][1000 genomes]
rs9326863	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9647582	0.84[AMR][1000 genomes]
rs9647583	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong 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	18 gene(s)	inside rSNPs	diseases
2	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2431514	APC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112098600-112131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:112100000-112152200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112104600-112155400	Weak transcription	Psoas Muscle	Psoas
6	chr5:112115600-112134600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:112115600-112140000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:112115800-112151200	Weak transcription	NHEK	skin
9	chr5:112118200-112136600	Weak transcription	Pancreas	Pancrea
10	chr5:112118200-112151200	Weak transcription	Gastric	stomach
11	chr5:112118200-112155600	Weak transcription	Right Ventricle	heart
12	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
13	chr5:112122000-112132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:112123600-112141800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:112124000-112144800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:112125000-112132000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr5:112125000-112140000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:112125400-112131400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:112125600-112132200	Strong transcription	Fetal Thymus	thymus
20	chr5:112125600-112134800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:112125800-112132000	Strong transcription	Primary T cells from cord blood	blood
22	chr5:112126200-112131800	Strong transcription	Fetal Brain Female	brain
23	chr5:112126200-112132400	Strong transcription	Fetal Muscle Leg	muscle
24	chr5:112126400-112131600	Strong transcription	Fetal Lung	lung
25	chr5:112126400-112131600	Strong transcription	Dnd41	blood
26	chr5:112126800-112131800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:112126800-112131800	Strong transcription	Brain Cingulate Gyrus	brain
28	chr5:112126800-112132000	Strong transcription	Adipose Nuclei	Adipose
29	chr5:112126800-112132000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:112126800-112132200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:112126800-112132400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:112126800-112134200	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr5:112126800-112142000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:112127000-112131600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:112127600-112132000	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:112127800-112140000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:112128000-112134000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:112128200-112131600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:112128200-112131600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr5:112128200-112131600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr5:112128200-112132200	Strong transcription	Brain Anterior Caudate	brain
42	chr5:112128200-112134000	Strong transcription	NHDF-Ad	bronchial
43	chr5:112128400-112131400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:112128400-112131800	Strong transcription	Liver	Liver
45	chr5:112128400-112131800	Strong transcription	Fetal Intestine Large	intestine
46	chr5:112128400-112132200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:112128400-112133600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:112128600-112131400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:112128600-112131400	Strong transcription	Ovary	ovary
50	chr5:112128600-112131400	Strong transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links