Variant report

Variant	rs1048683
Chromosome Location	chr11:105969258-105969259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIA4-2	chr11:105967470-105969426	NONHSAT023973

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10791780	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10895901	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10895902	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11226911	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11226920	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1893174	0.81[ASN][1000 genomes]
rs2277278	0.80[AFR][1000 genomes]
rs60606604	0.80[AFR][1000 genomes]
rs7108636	0.92[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7554	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9651674	0.90[AFR][1000 genomes];0.84[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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1048683	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:105949200-105969800	Weak transcription	Lung	lung
3	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
4	chr11:105950400-105971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:105950600-105969400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:105952000-105969400	Weak transcription	Colonic Mucosa	Colon
7	chr11:105953400-105970600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:105953600-105969600	Weak transcription	Gastric	stomach
9	chr11:105956000-105970000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:105957200-105971000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:105957200-105976600	Weak transcription	Pancreas	Pancrea
12	chr11:105957200-105976800	Weak transcription	Aorta	Aorta
13	chr11:105958600-105970000	Weak transcription	Fetal Intestine Small	intestine
14	chr11:105958600-105971800	Weak transcription	Hela-S3	cervix
15	chr11:105959200-105970000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:105959200-105970400	Strong transcription	Dnd41	blood
17	chr11:105959400-105970200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:105959400-105970200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:105959800-105970200	Weak transcription	Small Intestine	intestine
20	chr11:105959800-105970400	Weak transcription	Fetal Brain Male	brain
21	chr11:105961000-105969400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr11:105961000-105969600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:105961000-105970800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:105961000-105970800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:105961200-105970200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:105961200-105970400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:105961400-105970400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr11:105961400-105970400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:105961400-105971600	Strong transcription	HSMM	muscle
30	chr11:105961600-105970400	Strong transcription	Adipose Nuclei	Adipose
31	chr11:105961600-105970400	Strong transcription	Liver	Liver
32	chr11:105961800-105969600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr11:105961800-105970000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:105961800-105970200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr11:105961800-105970400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:105961800-105970600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:105962000-105970400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:105962200-105970400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:105962200-105970400	Strong transcription	Primary B cells from cord blood	blood
40	chr11:105962400-105970000	Strong transcription	HUVEC	blood vessel
41	chr11:105962400-105970600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:105962600-105969400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:105962600-105970000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr11:105963000-105969600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:105963000-105972400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:105963200-105971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:105963200-105972200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:105963400-105971400	Weak transcription	Thymus	Thymus
49	chr11:105964000-105971600	Weak transcription	Right Ventricle	heart
50	chr11:105964000-105971800	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links