Variant report

Variant	rs10445762
Chromosome Location	chr2:172303555-172303556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172302248..172305300-chr2:172308387..172310515,4	K562	blood:
2	chr2:172296199..172299351-chr2:172302148..172304062,3	K562	blood:
3	chr2:172277942..172280188-chr2:172302805..172305660,3	K562	blood:
4	chr2:172302577..172305369-chr2:172330311..172333042,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10515933	0.86[TSI][hapmap]
rs17220419	0.86[TSI][hapmap]
rs17220734	0.86[TSI][hapmap]
rs17285541	1.00[ASW][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap]
rs17286415	0.86[TSI][hapmap]
rs2111718	1.00[ASW][hapmap];0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2160849	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3731982	0.86[TSI][hapmap]
rs3731983	0.86[TSI][hapmap]
rs3795998	0.86[TSI][hapmap]
rs3821084	0.86[TSI][hapmap]
rs4522571	0.86[TSI][hapmap]
rs4668387	0.86[TSI][hapmap]
rs62183465	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562674	0.90[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs9789572	0.86[TSI][hapmap]

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	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
3	nsv961530	chr2:172302588-172303734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10445762	CYBRD1	cis	lymphoblastoid	seeQTL
rs10445762	METTL8	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291600-172304000	Weak transcription	Pancreas	Pancrea
3	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
5	chr2:172291800-172306400	Weak transcription	Psoas Muscle	Psoas
6	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr2:172292000-172304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:172292600-172307200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:172293000-172318600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:172293200-172311800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:172293200-172319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:172293200-172319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:172294000-172304200	Weak transcription	Fetal Lung	lung
20	chr2:172294200-172304200	Weak transcription	Fetal Kidney	kidney
21	chr2:172295000-172309600	Strong transcription	HepG2	liver
22	chr2:172295200-172309400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:172296000-172304400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:172296600-172309600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:172296800-172304200	Weak transcription	NH-A	brain
26	chr2:172297000-172313000	Weak transcription	A549	lung
27	chr2:172297000-172314000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:172298000-172303800	Weak transcription	Right Ventricle	heart
29	chr2:172298200-172303800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:172298200-172303800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:172298200-172303800	Weak transcription	Brain Germinal Matrix	brain
32	chr2:172298200-172304000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:172298200-172304000	Weak transcription	Esophagus	oesophagus
34	chr2:172298200-172304000	Weak transcription	Ovary	ovary
35	chr2:172298200-172304200	Weak transcription	Lung	lung
36	chr2:172298200-172304200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:172298200-172310400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:172298200-172314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:172298200-172326600	Weak transcription	Colonic Mucosa	Colon
40	chr2:172298400-172304000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:172298400-172304000	Weak transcription	Brain Angular Gyrus	brain
42	chr2:172298400-172304000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:172298400-172304000	Weak transcription	Spleen	Spleen
44	chr2:172298400-172304200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:172298400-172304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:172298400-172304200	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:172298400-172304200	Weak transcription	Brain Substantia Nigra	brain
48	chr2:172298400-172304200	Weak transcription	Colon Smooth Muscle	Colon
49	chr2:172298400-172304200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:172298400-172304400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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