Variant report

Variant	rs1049583
Chromosome Location	chr22:32352791-32352792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:32339237..32345444-chr22:32352616..32356758,7	K562	blood:
2	22:32162110-32166713..22:32352483-32354828	GM12878	blood:
3	chr22:32350878..32354651-chr22:32358565..32361250,3	K562	blood:
4	22:31836635-31847259..22:32352483-32354828	K562	blood:
5	chr22:32346636..32349380-chr22:32349950..32352854,3	K562	blood:
6	chr22:32260147..32262062-chr22:32352068..32353695,2	K562	blood:
7	22:32012966-32043914..22:32352483-32354828	GM12878	blood:
8	22:32053085-32061138..22:32352483-32354828	GM12878	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000227519	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12168840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2246704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2301415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2853884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2853887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2858750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2858752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2858753	0.89[CHB][hapmap]
rs3747158	0.89[CHB][hapmap]
rs4820059	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5998196	0.89[CHB][hapmap]
rs71806276	0.80[ASN][1000 genomes]
rs7290696	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs7291050	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs7364274	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs738181	0.88[CHB][hapmap]
rs8141011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs933226	0.88[CHB][hapmap]
rs9609394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609395	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9609397	1.00[YRI][hapmap]
rs9621371	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1049583	ENSG00000128245	cis	multi-tissue	Pritchard
rs1049583	YWHAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:32343600-32354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:32346600-32352800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr22:32346600-32356400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:32346800-32354800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:32347200-32355000	Strong transcription	Fetal Muscle Trunk	muscle
9	chr22:32347600-32353000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr22:32348400-32353200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr22:32348400-32354800	Strong transcription	Dnd41	blood
12	chr22:32348600-32353600	Strong transcription	GM12878-XiMat	blood
13	chr22:32348800-32354200	Strong transcription	K562	blood
14	chr22:32348800-32355000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:32349200-32354800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:32349800-32353200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr22:32349800-32354400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:32349800-32354800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:32349800-32355000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:32349800-32355000	Strong transcription	Fetal Intestine Large	intestine
21	chr22:32350200-32352800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr22:32350200-32355000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr22:32350400-32353000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr22:32350400-32354200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:32350600-32353200	Strong transcription	Fetal Intestine Small	intestine
26	chr22:32350600-32354200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:32350600-32354200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:32350600-32354200	Strong transcription	A549	lung
29	chr22:32350600-32354800	Strong transcription	Brain Germinal Matrix	brain
30	chr22:32350600-32355000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:32350600-32355000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:32350600-32355000	Strong transcription	Fetal Stomach	stomach
33	chr22:32350600-32355000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr22:32350800-32353600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:32350800-32354200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr22:32350800-32354200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:32350800-32354600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:32350800-32354800	Strong transcription	HMEC	breast
39	chr22:32350800-32355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:32351000-32353800	Strong transcription	NHEK	skin
41	chr22:32351000-32354200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr22:32351000-32354800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr22:32351000-32355000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr22:32351000-32355000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr22:32351200-32352800	Genic enhancers	Fetal Thymus	thymus
46	chr22:32351200-32352800	Genic enhancers	Thymus	Thymus
47	chr22:32351200-32353000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr22:32351200-32354600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:32351200-32354600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr22:32351200-32354600	Strong transcription	Brain Inferior Temporal Lobe	brain

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