Variant report

Variant	rs1812331
Chromosome Location	chr4:86848570-86848571
allele	A/G
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	JUN	chr4:86848197-86848650	K562	blood:	n/a	n/a

Variant related genes	Relation type
ARHGAP24	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10023559	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10023650	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11721455	1.00[ASN][1000 genomes]
rs11724703	1.00[ASN][1000 genomes]
rs11734835	1.00[ASN][1000 genomes]
rs11736203	1.00[ASN][1000 genomes]
rs11931275	1.00[ASN][1000 genomes]
rs11944662	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12645494	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13115144	0.86[EUR][1000 genomes]
rs13123763	1.00[ASN][1000 genomes]
rs13132091	1.00[ASN][1000 genomes]
rs13134118	1.00[ASN][1000 genomes]
rs13134252	1.00[ASN][1000 genomes]
rs13150958	1.00[ASN][1000 genomes]
rs1473010	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17011082	1.00[ASN][1000 genomes]
rs17011102	1.00[ASN][1000 genomes]
rs1812330	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008488	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2123361	1.00[ASN][1000 genomes]
rs2167715	1.00[ASN][1000 genomes]
rs2175309	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2575685	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2601841	1.00[ASN][1000 genomes]
rs2601842	1.00[ASN][1000 genomes]
rs2601850	1.00[ASN][1000 genomes]
rs2665870	1.00[ASN][1000 genomes]
rs2665874	1.00[ASN][1000 genomes]
rs345331	0.83[ASN][1000 genomes]
rs345332	0.83[ASN][1000 genomes]
rs345336	0.83[ASN][1000 genomes]
rs345356	0.83[ASN][1000 genomes]
rs345360	0.83[ASN][1000 genomes]
rs346468	1.00[ASN][1000 genomes]
rs346481	1.00[ASN][1000 genomes]
rs346511	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs346512	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs346514	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs346515	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs346519	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34836472	1.00[ASN][1000 genomes]
rs35114569	1.00[ASN][1000 genomes]
rs35852536	1.00[ASN][1000 genomes]
rs35900112	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35941601	1.00[ASN][1000 genomes]
rs36168230	1.00[ASN][1000 genomes]
rs4147415	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4599406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693750	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6531879	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6531880	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6818942	1.00[ASN][1000 genomes]
rs6842979	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs70948760	1.00[ASN][1000 genomes]
rs71599431	1.00[ASN][1000 genomes]
rs71603467	1.00[ASN][1000 genomes]
rs7672187	1.00[ASN][1000 genomes]
rs7684201	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7684540	1.00[ASN][1000 genomes]
rs7685869	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7688236	1.00[ASN][1000 genomes]
rs7693916	1.00[ASN][1000 genomes]
rs7695035	1.00[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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
2	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
3	chr4:86836000-86848800	Weak transcription	Fetal Kidney	kidney
4	chr4:86840600-86849800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:86841400-86849400	Weak transcription	A549	lung
6	chr4:86841600-86848800	Weak transcription	Stomach Mucosa	stomach
7	chr4:86843000-86849200	Weak transcription	Left Ventricle	heart
8	chr4:86843000-86850600	Weak transcription	Psoas Muscle	Psoas
9	chr4:86843200-86849000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr4:86843200-86849200	Weak transcription	Pancreas	Pancrea
11	chr4:86843200-86849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:86843200-86850000	Weak transcription	HSMMtube	muscle
13	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
14	chr4:86843800-86848600	Strong transcription	Primary B cells from cord blood	blood
15	chr4:86844400-86853800	Weak transcription	Gastric	stomach
16	chr4:86844800-86850600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:86845000-86849200	Weak transcription	Adipose Nuclei	Adipose
18	chr4:86845000-86849800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:86845400-86849200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:86845600-86849000	Weak transcription	Fetal Lung	lung
21	chr4:86845600-86850800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:86845800-86850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:86846000-86849800	Weak transcription	Osteobl	bone
24	chr4:86846000-86850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:86846000-86850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:86846400-86851000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr4:86846600-86848600	Weak transcription	HUVEC	blood vessel
28	chr4:86846600-86849200	Weak transcription	NHDF-Ad	bronchial
29	chr4:86846600-86850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:86847000-86850000	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:86847000-86850000	Weak transcription	HSMM	muscle
32	chr4:86847000-86853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:86847400-86849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:86847400-86850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:86847600-86850200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:86847600-86850400	Weak transcription	Fetal Heart	heart
37	chr4:86848000-86850200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr4:86848000-86850600	Enhancers	Dnd41	blood
39	chr4:86848400-86851400	Enhancers	Primary B cells from peripheral blood	blood

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