Variant report

Variant	rs73032583
Chromosome Location	chr2:179214489-179214490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179213210..179214878-chr2:179229639..179231620,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs59650700	0.90[AFR][1000 genomes]
rs59909690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59920072	0.88[AFR][1000 genomes]
rs60248353	0.92[AFR][1000 genomes]
rs61693478	0.92[AFR][1000 genomes]
rs6724166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032555	0.96[AFR][1000 genomes]
rs73032559	1.00[AFR][1000 genomes]
rs73032572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032575	0.94[AFR][1000 genomes]
rs73032582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563849	1.00[AFR][1000 genomes]
rs7579706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7590212	1.00[AFR][1000 genomes]
rs7591753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7602359	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179193000-179214600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:179193400-179215000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:179194600-179229400	Weak transcription	K562	blood
7	chr2:179195400-179214600	Weak transcription	Left Ventricle	heart
8	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:179195600-179214800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:179198400-179227400	Weak transcription	NHEK	skin
11	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:179199200-179214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
14	chr2:179201600-179218400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:179201800-179214800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:179201800-179216000	Weak transcription	Right Ventricle	heart
17	chr2:179201800-179216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:179201800-179217000	Weak transcription	Aorta	Aorta
19	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:179201800-179240400	Weak transcription	HSMMtube	muscle
22	chr2:179201800-179253600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:179201800-179268200	Weak transcription	HSMM	muscle
24	chr2:179202000-179216400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:179202400-179214600	Weak transcription	Brain Anterior Caudate	brain
26	chr2:179202400-179215000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:179202400-179216400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:179202400-179216400	Weak transcription	Ovary	ovary
29	chr2:179202400-179227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:179202400-179230600	Weak transcription	Fetal Brain Male	brain
31	chr2:179202400-179248000	Weak transcription	NH-A	brain
32	chr2:179206800-179218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:179207200-179214600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:179207800-179217000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:179209000-179220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:179209200-179253000	Weak transcription	Esophagus	oesophagus
37	chr2:179209600-179227200	Weak transcription	HMEC	breast
38	chr2:179210800-179257200	Weak transcription	Pancreas	Pancrea
39	chr2:179213200-179229400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:179213400-179216600	Strong transcription	Liver	Liver
41	chr2:179213800-179217600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:179214000-179215000	Strong transcription	Fetal Brain Female	brain
43	chr2:179214000-179217000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:179214200-179214800	Strong transcription	Brain Angular Gyrus	brain
45	chr2:179214400-179214800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:179214400-179214800	ZNF genes & repeats	Lung	lung
47	chr2:179214400-179215200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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