Variant report

Variant	rs73242645
Chromosome Location	chr4:57958456-57958457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11573048	0.97[EUR][1000 genomes]
rs28656154	0.85[ASN][1000 genomes]
rs35281174	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73242642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242643	0.91[ASN][1000 genomes]
rs73242644	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242646	0.91[ASN][1000 genomes]
rs73242647	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73242650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73242651	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73242656	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73242657	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73242658	0.81[AMR][1000 genomes]
rs73242659	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73242660	0.81[AMR][1000 genomes]
rs73242661	0.81[AMR][1000 genomes]
rs73242663	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
2	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
3	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
4	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:57948600-57960400	Weak transcription	HSMM	muscle
6	chr4:57950000-57960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:57950000-57960400	Weak transcription	Right Atrium	heart
8	chr4:57950000-57963800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:57950800-57960400	Weak transcription	NHLF	lung
10	chr4:57952000-57958600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:57955400-57958800	Enhancers	HUVEC	blood vessel
12	chr4:57955800-57960400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:57956200-57960800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:57956200-57964000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:57956400-57960200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:57956400-57960400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:57956400-57960400	Weak transcription	Adipose Nuclei	Adipose
18	chr4:57956400-57965400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:57956600-57960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:57956600-57960600	Weak transcription	NHEK	skin
21	chr4:57956800-57974400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:57957000-57958800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:57957000-57960200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:57957000-57960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:57957000-57960400	Weak transcription	Lung	lung
26	chr4:57957000-57974600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:57957200-57975200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:57957400-57958600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:57957400-57958600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:57957400-57967000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:57957600-57958600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:57957600-57958600	Enhancers	A549	lung
33	chr4:57957600-57958800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:57957600-57958800	Enhancers	Colon Smooth Muscle	Colon
35	chr4:57957600-57960200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:57957800-57958600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:57957800-57959000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:57957800-57959800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:57957800-57960200	Weak transcription	Ovary	ovary
40	chr4:57957800-57960400	Weak transcription	HMEC	breast
41	chr4:57958000-57959800	Weak transcription	Fetal Lung	lung
42	chr4:57958000-57960400	Weak transcription	HSMMtube	muscle
43	chr4:57958000-57962600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:57958000-57968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:57958200-57958600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:57958200-57958600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:57958200-57958600	Enhancers	Stomach Smooth Muscle	stomach
48	chr4:57958200-57960000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:57958200-57960200	Weak transcription	Right Ventricle	heart
50	chr4:57958200-57960200	Weak transcription	Osteobl	bone

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