Variant report

Variant	rs11038913
Chromosome Location	chr11:46559730-46559731
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46408502..46412876-chr11:46558221..46561633,5	MCF-7	breast:
2	chr11:46404448..46405323-chr11:46559050..46559932,2	K562	blood:
3	chr11:46412620..46414193-chr11:46559693..46562075,2	K562	blood:
4	chr11:46516761..46518972-chr11:46558292..46560019,2	K562	blood:
5	chr11:46375320..46378130-chr11:46558435..46561051,3	K562	blood:
6	chr11:46376547..46378130-chr11:46558435..46561051,3	K562	blood:
7	chr11:46268866..46269479-chr11:46559103..46559758,2	K562	blood:
8	chr11:46559122..46562110-chr11:46613853..46615820,2	MCF-7	breast:
9	chr11:46404499..46405688-chr11:46559322..46559979,3	MCF-7	breast:
10	chr11:46373104..46374080-chr11:46559127..46559801,2	MCF-7	breast:
11	chr11:46401471..46405229-chr11:46558027..46561346,4	K562	blood:
12	chr11:46410645..46411544-chr11:46559102..46560051,4	MCF-7	breast:
13	chr11:46550499..46551136-chr11:46558998..46560032,3	MCF-7	breast:
14	chr11:46431292..46432224-chr11:46559060..46559954,4	MCF-7	breast:
15	chr11:46511340..46512164-chr11:46559088..46559940,7	MCF-7	breast:
16	chr11:46554210..46556508-chr11:46558751..46560568,2	K562	blood:
17	chr11:46557169..46561355-chr11:46561734..46565230,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110497	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11038990	1.00[AFR][1000 genomes]
rs8914	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11038913	MADD	cis	cerebellum	SCAN
rs11038913	CELF1	cis	cerebellum	SCAN
rs11038913	MADD	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46503400-46563000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:46530400-46561800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:46535600-46563200	Weak transcription	Small Intestine	intestine
4	chr11:46535800-46563200	Weak transcription	Pancreas	Pancrea
5	chr11:46536000-46563200	Weak transcription	Fetal Stomach	stomach
6	chr11:46541400-46563200	Weak transcription	Aorta	Aorta
7	chr11:46543400-46563200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:46543400-46563200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:46543400-46563200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:46543400-46563400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:46543600-46561600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:46543800-46560400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:46543800-46562400	Weak transcription	NH-A	brain
14	chr11:46545000-46563800	Weak transcription	Right Atrium	heart
15	chr11:46545200-46560600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:46545200-46561600	Weak transcription	Fetal Brain Female	brain
17	chr11:46545200-46561600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:46548800-46560400	Weak transcription	Fetal Intestine Large	intestine
19	chr11:46548800-46561400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:46549600-46562400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:46550000-46561000	Weak transcription	Placenta	Placenta
22	chr11:46550800-46561400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:46550800-46561800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:46551000-46561200	Weak transcription	Primary B cells from cord blood	blood
25	chr11:46551000-46562400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:46551000-46562600	Weak transcription	Spleen	Spleen
27	chr11:46551200-46560200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:46551200-46561200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr11:46551200-46561200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:46551200-46561600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:46551200-46561800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:46551200-46563000	Weak transcription	Colonic Mucosa	Colon
33	chr11:46551200-46563200	Weak transcription	Gastric	stomach
34	chr11:46551200-46563200	Weak transcription	Lung	lung
35	chr11:46551400-46560400	Weak transcription	GM12878-XiMat	blood
36	chr11:46551400-46561200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:46551600-46560400	Weak transcription	Primary T cells from cord blood	blood
38	chr11:46551600-46561800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:46551600-46562400	Weak transcription	Fetal Lung	lung
40	chr11:46551600-46562600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:46551800-46561400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:46552000-46561800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:46552000-46562400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:46552000-46563000	Weak transcription	Left Ventricle	heart
45	chr11:46552200-46561800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:46552200-46562200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:46552200-46562600	Weak transcription	Ovary	ovary
48	chr11:46552200-46562600	Weak transcription	Right Ventricle	heart
49	chr11:46556000-46559800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr11:46556400-46560200	Weak transcription	Fetal Muscle Trunk	muscle

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