Variant report

Variant	rs550942
Chromosome Location	chr11:58394154-58394155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:58386568..58389944-chr11:58391542..58395484,7	K562	blood:
2	chr11:58390174..58392645-chr11:58393294..58395945,2	K562	blood:
3	chr11:58376475..58380283-chr11:58392724..58395037,3	K562	blood:
4	chr11:58388749..58391231-chr11:58391724..58394520,2	MCF-7	breast:
5	chr11:58344844..58347176-chr11:58392286..58394519,2	K562	blood:

Variant related genes	Relation type
ENSG00000255073	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000269570	Chromatin interaction
ENSG00000242689	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs629950	1.00[ASW][hapmap];0.93[CEU][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap]

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	nsv832168	chr11:58394060-58564651	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs550942	OR9I1	cis	cerebellum	SCAN
rs550942	LRRC55	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58376600-58395800	Strong transcription	Fetal Thymus	thymus
2	chr11:58376600-58396200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:58376800-58395200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:58376800-58395600	Strong transcription	Dnd41	blood
5	chr11:58377000-58394600	Strong transcription	K562	blood
6	chr11:58377200-58394400	Strong transcription	A549	lung
7	chr11:58377200-58394600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr11:58377200-58394800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:58377200-58394800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:58377200-58397200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:58377400-58394600	Strong transcription	Primary hematopoietic stem cells	blood
12	chr11:58377400-58394600	Strong transcription	Fetal Intestine Large	intestine
13	chr11:58377400-58394800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:58377400-58394800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr11:58377400-58395200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:58377600-58395200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr11:58379000-58394600	Strong transcription	Fetal Muscle Leg	muscle
18	chr11:58381400-58395000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:58385200-58394200	Strong transcription	Placenta	Placenta
20	chr11:58385200-58397000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:58385600-58400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:58386800-58400000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:58388000-58394400	Weak transcription	Fetal Heart	heart
24	chr11:58388600-58395200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:58388800-58394600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:58389800-58394600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:58390000-58394600	Strong transcription	Primary T cells from cord blood	blood
28	chr11:58390000-58395200	Strong transcription	GM12878-XiMat	blood
29	chr11:58391800-58394600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:58391800-58397400	Genic enhancers	HSMM	muscle
31	chr11:58392000-58394400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:58392000-58394600	Weak transcription	HepG2	liver
33	chr11:58392000-58394800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:58392000-58396000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:58392000-58397000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:58392000-58406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:58392200-58394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:58392200-58394400	Weak transcription	Small Intestine	intestine
39	chr11:58392200-58394600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:58392200-58394600	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr11:58392200-58394600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:58392200-58394800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:58392200-58394800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:58392200-58394800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:58392200-58397600	Weak transcription	Esophagus	oesophagus
46	chr11:58392200-58399200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:58392200-58400800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:58392400-58394200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:58392400-58394400	Weak transcription	HUVEC	blood vessel
50	chr11:58392400-58395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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