Variant report

Variant	rs9568042
Chromosome Location	chr13:49031832-49031833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1951775	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs198619	0.85[AFR][1000 genomes]
rs4942765	0.89[AFR][1000 genomes]
rs9316382	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs943278	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526475	0.89[AFR][1000 genomes]
rs9535016	0.81[AFR][1000 genomes]
rs9535018	0.83[AFR][1000 genomes]
rs9535032	0.93[ASN][1000 genomes]
rs9535033	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9535035	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9562819	0.91[AFR][1000 genomes]
rs9568043	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs990814	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9568042	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49017400-49062200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:49018000-49062400	Weak transcription	Fetal Brain Male	brain
3	chr13:49020800-49062000	Weak transcription	Fetal Kidney	kidney
4	chr13:49021200-49058600	Weak transcription	Hela-S3	cervix
5	chr13:49023800-49061000	Weak transcription	Small Intestine	intestine
6	chr13:49023800-49073800	Weak transcription	NH-A	brain
7	chr13:49024000-49059000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:49025400-49034400	Weak transcription	Fetal Lung	lung
9	chr13:49025600-49041200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:49025600-49056800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:49025600-49066200	Weak transcription	Psoas Muscle	Psoas
12	chr13:49026400-49033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:49026600-49033000	Strong transcription	HSMM	muscle
14	chr13:49026600-49039400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:49026800-49039400	Strong transcription	Dnd41	blood
16	chr13:49026800-49039600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr13:49027000-49039800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr13:49027200-49039200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:49027200-49039600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:49027200-49039800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:49027400-49032400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:49027400-49032600	Strong transcription	Fetal Muscle Leg	muscle
23	chr13:49027400-49032800	Strong transcription	Stomach Smooth Muscle	stomach
24	chr13:49027400-49035400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:49027400-49036800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr13:49027400-49039800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:49027600-49032400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:49027600-49032600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:49027600-49039800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:49027600-49049200	Weak transcription	A549	lung
31	chr13:49027800-49035200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:49027800-49039200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:49027800-49043000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:49028000-49032400	Strong transcription	Fetal Intestine Large	intestine
35	chr13:49028000-49039200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:49028600-49039800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:49028800-49032400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:49028800-49034000	Strong transcription	Primary T cells from cord blood	blood
40	chr13:49028800-49035000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:49029000-49032400	Strong transcription	NHLF	lung
42	chr13:49029000-49034400	Strong transcription	Primary B cells from cord blood	blood
43	chr13:49029000-49038600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:49029000-49038600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr13:49029000-49046000	Weak transcription	HSMMtube	muscle
46	chr13:49029200-49032200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr13:49029200-49033800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:49029200-49038800	Weak transcription	Osteobl	bone
49	chr13:49029200-49062000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr13:49029400-49052400	Weak transcription	K562	blood

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