Variant report

Variant	rs11042411
Chromosome Location	chr11:9555086-9555087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9482191..9484017-chr11:9553347..9556317,2	K562	blood:
2	chr11:9555032..9556832-chr11:9587944..9589560,2	K562	blood:
3	chr11:9553327..9556356-chr11:9558618..9561853,3	K562	blood:
4	chr11:9549821..9553673-chr11:9553881..9558124,6	K562	blood:
5	chr11:9549975..9559413-chr11:9590114..9600515,26	MCF-7	breast:
6	chr11:9554823..9558413-chr11:9633918..9637025,5	K562	blood:
7	chr11:9547770..9558262-chr11:9588302..9599721,48	MCF-7	breast:
8	chr11:9554695..9557077-chr11:9586375..9588015,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000238387	Chromatin interaction
ENSG00000166483	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10840259	0.83[AFR][1000 genomes]
rs10840287	1.00[YRI][hapmap]
rs11042440	1.00[YRI][hapmap]
rs11042441	1.00[YRI][hapmap]
rs11042466	1.00[YRI][hapmap]
rs11600183	1.00[YRI][hapmap]
rs7120616	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042411	SNORA23	cis	cerebellum	SCAN

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9534600-9556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9538800-9562000	Weak transcription	Small Intestine	intestine
3	chr11:9547400-9556400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:9547600-9569800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:9547800-9557000	Weak transcription	Spleen	Spleen
6	chr11:9547800-9586600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:9549400-9555600	Weak transcription	HMEC	breast
8	chr11:9549400-9556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:9549400-9581000	Weak transcription	Primary B cells from cord blood	blood
10	chr11:9549800-9578200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:9550600-9556400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:9550600-9556400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr11:9550600-9586600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:9551000-9581200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:9551200-9556200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr11:9551200-9556400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:9551200-9570600	Weak transcription	Thymus	Thymus
18	chr11:9551400-9556200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:9551400-9556400	Weak transcription	NHDF-Ad	bronchial
20	chr11:9551400-9556800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:9551400-9562600	Weak transcription	Pancreas	Pancrea
22	chr11:9551400-9582600	Weak transcription	Primary T cells from cord blood	blood
23	chr11:9551600-9555200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:9551600-9556800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:9551600-9556800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:9551800-9556000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:9551800-9556200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:9551800-9573400	Weak transcription	Right Ventricle	heart
29	chr11:9552000-9556200	Weak transcription	Right Atrium	heart
30	chr11:9552400-9556000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:9552400-9556200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr11:9552800-9555400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:9552800-9556200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:9553000-9556200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:9553000-9556400	Weak transcription	Hela-S3	cervix
36	chr11:9553000-9573400	Weak transcription	Gastric	stomach
37	chr11:9553200-9555200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:9553200-9556200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:9554600-9555600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:9554600-9557000	Enhancers	Fetal Intestine Large	intestine
41	chr11:9554600-9557200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:9554800-9555200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr11:9554800-9555200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:9554800-9555200	Enhancers	Fetal Muscle Leg	muscle
45	chr11:9554800-9555200	Enhancers	Stomach Mucosa	stomach
46	chr11:9554800-9555200	Flanking Active TSS	HSMM	muscle
47	chr11:9554800-9555200	Enhancers	Osteobl	bone
48	chr11:9554800-9555400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:9554800-9555400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:9554800-9555400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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