Variant report

Variant	rs4668385
Chromosome Location	chr2:172307151-172307152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172297612..172303267-chr2:172305217..172308512,5	K562	blood:
2	chr2:172289123..172294777-chr2:172305458..172308924,10	K562	blood:
3	chr2:172289123..172292836-chr2:172306272..172310763,6	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10445722	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10490604	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10515933	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151641	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1476111	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1558936	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17220419	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17220440	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17220608	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17220657	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17220699	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17220734	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17221346	0.81[EUR][1000 genomes]
rs17221367	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17221402	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17221619	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17286415	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17286660	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1861899	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1981788	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2356781	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28742013	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36112363	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3731981	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3731982	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3731983	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3731985	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3795998	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3821084	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4417688	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4458186	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4496302	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4522571	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4668386	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4668387	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55999882	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56410960	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57099324	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58536060	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59960186	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60439518	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181352	0.81[AMR][1000 genomes]
rs62183467	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183468	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62183470	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62183471	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62183472	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183492	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62183493	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62183494	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183495	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183497	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183498	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62183499	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183502	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183503	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183504	0.82[ASN][1000 genomes]
rs62183506	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62183507	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183539	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6433290	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6433291	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6433292	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6713612	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718740	0.80[AMR][1000 genomes]
rs6720250	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6740733	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6741806	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6743290	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7568037	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7572334	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576894	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7594714	0.83[ASN][1000 genomes]
rs7598137	0.81[AMR][1000 genomes]
rs7606658	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9678149	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9678164	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9679537	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9789380	0.81[ASN][1000 genomes]
rs9789572	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9789596	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4668385	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
3	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:172292600-172307200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:172293200-172311800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:172295000-172309600	Strong transcription	HepG2	liver
16	chr2:172295200-172309400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:172296600-172309600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:172297000-172313000	Weak transcription	A549	lung
19	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:172298200-172310400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:172298200-172314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
23	chr2:172298400-172311800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:172298400-172314200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:172298400-172325400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:172298400-172325600	Weak transcription	Hela-S3	cervix
27	chr2:172298400-172326200	Weak transcription	NHEK	skin
28	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
29	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:172298600-172341400	Weak transcription	NHLF	lung
31	chr2:172299400-172325400	Weak transcription	Gastric	stomach
32	chr2:172300600-172307800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:172301600-172310600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:172303000-172307600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:172303400-172310600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:172303600-172307800	Strong transcription	Left Ventricle	heart
38	chr2:172303600-172310200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:172303600-172310600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:172303600-172316200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:172303600-172317000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:172303800-172307600	Strong transcription	HUVEC	blood vessel
43	chr2:172303800-172307600	Strong transcription	Osteobl	bone
44	chr2:172303800-172307800	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:172303800-172307800	Strong transcription	Right Ventricle	heart
46	chr2:172303800-172308000	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:172303800-172308400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:172303800-172309600	Strong transcription	Adipose Nuclei	Adipose
49	chr2:172303800-172311600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:172303800-172312200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links