Variant report

Variant	rs73240296
Chromosome Location	chr4:20738903-20738904
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	chr4:20733613..20735469-chr4:20737753..20739786,2	K562	blood:
2	chr4:20736248..20737799-chr4:20738056..20739802,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73240290	0.84[EUR][1000 genomes]
rs73240300	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73242504	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv869522	chr4:20724433-20938248	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
2	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:20707200-20739400	Weak transcription	HepG2	liver
4	chr4:20715400-20739400	Weak transcription	Osteobl	bone
5	chr4:20724400-20739000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:20724400-20739400	Weak transcription	Fetal Thymus	thymus
7	chr4:20724400-20739400	Weak transcription	Thymus	Thymus
8	chr4:20724400-20739400	Weak transcription	Spleen	Spleen
9	chr4:20724400-20740000	Weak transcription	GM12878-XiMat	blood
10	chr4:20724600-20739200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:20724600-20742000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:20724800-20741600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:20725000-20740600	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:20725000-20753000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:20725200-20739200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:20725600-20740000	Weak transcription	Brain Anterior Caudate	brain
17	chr4:20726000-20740000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:20726200-20740400	Weak transcription	Colonic Mucosa	Colon
19	chr4:20730600-20739000	Weak transcription	Placenta	Placenta
20	chr4:20730600-20739600	Weak transcription	HUVEC	blood vessel
21	chr4:20730600-20757600	Weak transcription	HSMM	muscle
22	chr4:20732600-20758400	Weak transcription	Brain Angular Gyrus	brain
23	chr4:20734600-20739000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:20735200-20741600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr4:20735800-20739000	Weak transcription	Fetal Kidney	kidney
26	chr4:20736000-20739000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:20736000-20739200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:20736000-20747800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:20736200-20741600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr4:20736800-20741400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:20737000-20739000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:20737000-20740600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr4:20737400-20741200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:20737400-20741400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr4:20737600-20740600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:20738000-20740800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:20738200-20740600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr4:20738200-20741200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:20738400-20739000	ZNF genes & repeats	Brain Hippocampus Middle	brain
40	chr4:20738400-20739200	ZNF genes & repeats	Fetal Heart	heart
41	chr4:20738400-20739400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
42	chr4:20738400-20740200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:20738400-20740200	ZNF genes & repeats	A549	lung
44	chr4:20738400-20740600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr4:20738400-20740800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:20738400-20740800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr4:20738400-20740800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:20738400-20740800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:20738400-20740800	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr4:20738400-20740800	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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