Variant report

Variant	rs60293813
Chromosome Location	chr11:74606606-74606607
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59708371	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59856454	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60798365	1.00[AMR][1000 genomes]
rs61746227	0.85[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	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74587400-74611800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:74587400-74629600	Weak transcription	Gastric	stomach
3	chr11:74588400-74630600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:74588400-74636000	Weak transcription	NHLF	lung
5	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
6	chr11:74595800-74611800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:74596400-74612000	Weak transcription	HSMM	muscle
8	chr11:74596800-74619000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:74598000-74606800	Weak transcription	Left Ventricle	heart
10	chr11:74598200-74609800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:74598200-74615200	Weak transcription	Osteobl	bone
12	chr11:74598400-74611800	Weak transcription	Dnd41	blood
13	chr11:74598400-74629600	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:74598800-74607400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:74599000-74606800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:74599000-74607000	Weak transcription	Ovary	ovary
17	chr11:74599000-74611800	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:74599200-74607400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:74599200-74611600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:74599200-74619400	Weak transcription	Colonic Mucosa	Colon
21	chr11:74599400-74606800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:74599400-74611800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:74603200-74617800	Weak transcription	K562	blood
24	chr11:74603800-74616600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:74604800-74606800	ZNF genes & repeats	Liver	Liver
26	chr11:74604800-74607200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:74604800-74608000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:74605000-74608000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:74605000-74608000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:74605000-74611800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:74605200-74608800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:74605400-74607000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:74605400-74607200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:74605400-74607600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:74605400-74607800	Strong transcription	Primary T cells from cord blood	blood
36	chr11:74605600-74607200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:74605600-74607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:74605600-74611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:74605800-74606800	ZNF genes & repeats	Fetal Brain Female	brain
40	chr11:74605800-74607000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:74605800-74607800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:74606000-74606800	Genic enhancers	Right Ventricle	heart
43	chr11:74606000-74607000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:74606000-74608000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr11:74606200-74606800	Strong transcription	NHEK	skin
46	chr11:74606200-74607200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:74606200-74607400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:74606200-74607400	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr11:74606200-74607400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:74606200-74607600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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