Variant report

Variant	rs73936559
Chromosome Location	chr2:67877776-67877777
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	chr2:67871857..67874448-chr2:67877443..67879298,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17034076	0.83[AMR][1000 genomes]
rs55640041	0.88[AFR][1000 genomes]
rs73936558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73936561	0.88[AFR][1000 genomes]
rs73936562	0.88[AFR][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67875000-67878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:67875200-67879000	Enhancers	Hela-S3	cervix
4	chr2:67875200-67879200	Enhancers	Fetal Stomach	stomach
5	chr2:67875600-67878800	Enhancers	Adipose Nuclei	Adipose
6	chr2:67876200-67878400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:67876200-67878800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:67876200-67879000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:67876200-67879000	Enhancers	Colon Smooth Muscle	Colon
10	chr2:67876200-67879000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:67876200-67879000	Enhancers	Ovary	ovary
12	chr2:67876200-67879200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:67876400-67878400	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:67876400-67878800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:67876400-67878800	Enhancers	A549	lung
16	chr2:67876400-67878800	Enhancers	HSMM	muscle
17	chr2:67876400-67879000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:67876400-67879000	Enhancers	NHDF-Ad	bronchial
19	chr2:67876400-67879400	Enhancers	Brain Germinal Matrix	brain
20	chr2:67876600-67877800	Weak transcription	Placenta	Placenta
21	chr2:67876600-67878000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:67876600-67879000	Enhancers	HSMMtube	muscle
23	chr2:67876600-67879000	Enhancers	NH-A	brain
24	chr2:67876800-67877800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:67876800-67878000	Enhancers	HMEC	breast
26	chr2:67876800-67878200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:67876800-67878200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:67876800-67878600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:67876800-67878800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:67876800-67878800	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr2:67877000-67877800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:67877200-67878000	Weak transcription	Gastric	stomach
33	chr2:67877200-67878400	Enhancers	Fetal Brain Female	brain
34	chr2:67877200-67878400	Enhancers	Fetal Intestine Large	intestine
35	chr2:67877200-67878400	Weak transcription	Fetal Kidney	kidney
36	chr2:67877200-67879000	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:67877200-67879600	Enhancers	Fetal Lung	lung
38	chr2:67877400-67877800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:67877400-67877800	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:67877400-67878200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:67877400-67878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:67877400-67878600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:67877400-67878600	Weak transcription	Right Ventricle	heart
44	chr2:67877400-67878800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:67877400-67879000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:67877600-67877800	Enhancers	Fetal Heart	heart
47	chr2:67877600-67878000	Weak transcription	NHLF	lung
48	chr2:67877600-67878200	Enhancers	Brain Hippocampus Middle	brain
49	chr2:67877600-67878200	Weak transcription	Left Ventricle	heart
50	chr2:67877600-67878200	Weak transcription	Psoas Muscle	Psoas

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