Variant report

Variant	rs12290575
Chromosome Location	chr11:64762724-64762725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64759655..64763074-chr11:64796626..64799324,3	K562	blood:
2	chr11:64754069..64755968-chr11:64760951..64763260,2	MCF-7	breast:
3	chr11:64760845..64763146-chr11:64780977..64783906,2	MCF-7	breast:
4	chr11:64568687..64571472-chr11:64762371..64764508,2	K562	blood:
5	chr11:64761070..64763113-chr11:64782531..64784584,2	K562	blood:

Variant related genes	Relation type
ENSG00000168067	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000273003	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11231898	1.00[AMR][1000 genomes]
rs11231909	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61741398	1.00[AMR][1000 genomes]
rs61746812	1.00[AMR][1000 genomes]
rs7111659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64752400-64764200	Weak transcription	Aorta	Aorta
2	chr11:64755000-64764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:64756400-64764600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64756800-64763800	Weak transcription	Psoas Muscle	Psoas
5	chr11:64757200-64763200	Weak transcription	Ovary	ovary
6	chr11:64757200-64766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:64757800-64763800	Weak transcription	Right Atrium	heart
8	chr11:64757800-64763800	Weak transcription	Small Intestine	intestine
9	chr11:64757800-64763800	Weak transcription	Stomach Mucosa	stomach
10	chr11:64758000-64763000	Weak transcription	Colonic Mucosa	Colon
11	chr11:64758000-64763600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:64758000-64763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:64758000-64763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:64758000-64763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:64758000-64763800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:64758000-64763800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:64758000-64764200	Weak transcription	A549	lung
18	chr11:64758000-64766000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:64758200-64762800	Strong transcription	Fetal Intestine Small	intestine
20	chr11:64758200-64763200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:64758200-64763800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:64758200-64763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:64758200-64764000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:64758200-64764000	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:64758200-64764000	Weak transcription	Fetal Lung	lung
26	chr11:64758200-64764000	Weak transcription	NHLF	lung
27	chr11:64758200-64764000	Weak transcription	Osteobl	bone
28	chr11:64758200-64764200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:64758200-64764200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:64758400-64763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:64758400-64764000	Weak transcription	HUVEC	blood vessel
32	chr11:64758400-64765800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:64759400-64763000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:64759400-64763800	Weak transcription	GM12878-XiMat	blood
35	chr11:64759600-64763200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:64759600-64763200	Weak transcription	Placenta	Placenta
37	chr11:64759600-64763600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:64759600-64763800	Weak transcription	Primary B cells from cord blood	blood
39	chr11:64759600-64763800	Weak transcription	Gastric	stomach
40	chr11:64759600-64764000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:64759600-64764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:64761000-64763000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:64761600-64762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:64761800-64762800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:64761800-64763800	Weak transcription	Adipose Nuclei	Adipose
46	chr11:64761800-64763800	Enhancers	Spleen	Spleen
47	chr11:64762000-64762800	Enhancers	Left Ventricle	heart
48	chr11:64762000-64762800	Enhancers	Pancreas	Pancrea
49	chr11:64762000-64762800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:64762200-64763800	Enhancers	Duodenum Smooth Muscle	Duodenum

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