Variant report

Variant	rs73919626
Chromosome Location	chr2:20879937-20879938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20879010-20880918	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20869791..20872080-chr2:20879874..20881435,2	K562	blood:
2	chr2:20870580..20872713-chr2:20878817..20881435,2	K562	blood:

Variant related genes	Relation type
ENSG00000270100	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73919620	1.00[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	nsv1003220	chr2:20847698-20895698	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535601	chr2:20847698-20895698	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20871200-20885800	Weak transcription	Right Ventricle	heart
2	chr2:20874200-20884400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:20874600-20886600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:20874800-20880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:20874800-20880400	Weak transcription	Thymus	Thymus
6	chr2:20875000-20891000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:20875200-20880800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:20875200-20881200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:20875200-20883000	Weak transcription	K562	blood
10	chr2:20875200-20885200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:20875200-20898800	Weak transcription	NH-A	brain
12	chr2:20875400-20885000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:20875400-20885000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:20875400-20891000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:20875400-20902800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:20875600-20880400	Weak transcription	Spleen	Spleen
17	chr2:20875600-20880800	Weak transcription	HSMMtube	muscle
18	chr2:20875600-20883000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:20875600-20884600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:20875600-20885800	Weak transcription	Lung	lung
21	chr2:20875600-20898400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:20875600-20898600	Weak transcription	Osteobl	bone
23	chr2:20875800-20880400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:20875800-20880600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:20875800-20880600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:20875800-20880600	Weak transcription	NHLF	lung
27	chr2:20875800-20881000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:20875800-20881200	Weak transcription	Fetal Lung	lung
29	chr2:20875800-20884200	Weak transcription	Ovary	ovary
30	chr2:20875800-20884400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:20875800-20887000	Weak transcription	NHDF-Ad	bronchial
32	chr2:20875800-20909200	Weak transcription	NHEK	skin
33	chr2:20876000-20880400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:20876000-20881000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:20876000-20881400	Weak transcription	Fetal Thymus	thymus
36	chr2:20876000-20881600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:20876000-20882400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:20876000-20884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:20876000-20885000	Weak transcription	Fetal Kidney	kidney
40	chr2:20876000-20887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:20876000-20889600	Weak transcription	Esophagus	oesophagus
42	chr2:20876000-20902200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:20876200-20880200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:20876200-20880600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:20876200-20884600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:20876200-20885000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr2:20876200-20885400	Weak transcription	A549	lung
48	chr2:20876200-20885800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:20876200-20887800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:20876200-20899000	Weak transcription	HSMM	muscle

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