Variant report

Variant	rs12270141
Chromosome Location	chr11:64758419-64758420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64610242..64612871-chr11:64758372..64760520,2	K562	blood:
2	chr11:64758212..64760438-chr11:64781054..64782935,2	K562	blood:

Variant related genes	Relation type
ENSG00000213465	Chromatin interaction
ENSG00000171219	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]
rs12277345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290575	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:60 , 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	chr11:64756200-64761600	Weak transcription	Pancreas	Pancrea
4	chr11:64756400-64764600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64756800-64763800	Weak transcription	Psoas Muscle	Psoas
6	chr11:64757200-64763200	Weak transcription	Ovary	ovary
7	chr11:64757200-64766200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:64757800-64759200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr11:64757800-64763800	Weak transcription	Right Atrium	heart
10	chr11:64757800-64763800	Weak transcription	Small Intestine	intestine
11	chr11:64757800-64763800	Weak transcription	Stomach Mucosa	stomach
12	chr11:64758000-64759000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:64758000-64759200	Weak transcription	Gastric	stomach
14	chr11:64758000-64759200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:64758000-64760800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:64758000-64761000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:64758000-64762000	Weak transcription	Left Ventricle	heart
18	chr11:64758000-64762400	Weak transcription	Lung	lung
19	chr11:64758000-64763000	Weak transcription	Colonic Mucosa	Colon
20	chr11:64758000-64763600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:64758000-64763800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:64758000-64763800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:64758000-64763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:64758000-64763800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:64758000-64763800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:64758000-64764200	Weak transcription	A549	lung
27	chr11:64758000-64766000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:64758200-64758800	Weak transcription	Spleen	Spleen
29	chr11:64758200-64759200	Enhancers	Adipose Nuclei	Adipose
30	chr11:64758200-64759200	Weak transcription	Liver	Liver
31	chr11:64758200-64759200	Weak transcription	Fetal Intestine Large	intestine
32	chr11:64758200-64759200	Weak transcription	Placenta	Placenta
33	chr11:64758200-64759400	Enhancers	GM12878-XiMat	blood
34	chr11:64758200-64759600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:64758200-64759600	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:64758200-64761000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:64758200-64762200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:64758200-64762600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:64758200-64762600	Weak transcription	HepG2	liver
40	chr11:64758200-64762800	Strong transcription	Fetal Intestine Small	intestine
41	chr11:64758200-64763200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:64758200-64763800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:64758200-64763800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:64758200-64764000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:64758200-64764000	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:64758200-64764000	Weak transcription	Fetal Lung	lung
47	chr11:64758200-64764000	Weak transcription	NHLF	lung
48	chr11:64758200-64764000	Weak transcription	Osteobl	bone
49	chr11:64758200-64764200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:64758200-64764200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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