Variant report

Variant	rs7638554
Chromosome Location	chr3:142469096-142469097
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	chr3:142468908..142470410-chr3:142472002..142473779,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10049098	0.84[AFR][1000 genomes]
rs10049364	0.84[AFR][1000 genomes]
rs10935469	0.84[AFR][1000 genomes]
rs13320613	0.81[AFR][1000 genomes]
rs13322816	0.84[AFR][1000 genomes]
rs13325615	0.98[AFR][1000 genomes]
rs13434361	0.93[AFR][1000 genomes]
rs1916641	0.98[AFR][1000 genomes]
rs28505293	0.84[AFR][1000 genomes]
rs28564963	0.84[AFR][1000 genomes]
rs28678273	0.93[AFR][1000 genomes]
rs28728040	0.95[AFR][1000 genomes]
rs6798447	0.86[AFR][1000 genomes]
rs72988606	0.91[AFR][1000 genomes]
rs72988611	0.98[AFR][1000 genomes]
rs72988625	0.98[AFR][1000 genomes]
rs72990716	0.81[AFR][1000 genomes]
rs73002086	0.86[AFR][1000 genomes]
rs73002087	0.86[AFR][1000 genomes]
rs7622773	0.96[AFR][1000 genomes]
rs7637053	0.83[AFR][1000 genomes]
rs7641418	0.84[AFR][1000 genomes]
rs9289650	0.98[AFR][1000 genomes]
rs9809475	0.84[AFR][1000 genomes]
rs9810360	0.83[AFR][1000 genomes]
rs9810606	0.83[AFR][1000 genomes]
rs9811051	0.83[AFR][1000 genomes]
rs9826191	0.81[AFR][1000 genomes]
rs9827373	0.84[AFR][1000 genomes]
rs9836232	0.84[AFR][1000 genomes]
rs9837730	0.93[AFR][1000 genomes]
rs9847616	0.83[AFR][1000 genomes]
rs9850432	0.84[AFR][1000 genomes]
rs9867286	0.84[AFR][1000 genomes]
rs9867886	0.98[AFR][1000 genomes]
rs9877174	0.93[AFR][1000 genomes]
rs9877670	0.93[AFR][1000 genomes]
rs9882985	0.84[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	nsv591920	chr3:142411200-142496951	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv521098	chr3:142411200-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv518623	chr3:142417070-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142444400-142469600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:142445000-142479000	Weak transcription	Fetal Brain Female	brain
3	chr3:142452800-142489000	Weak transcription	Aorta	Aorta
4	chr3:142458000-142482800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:142459000-142470000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:142461800-142470600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:142464800-142493200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:142465600-142471800	Weak transcription	HepG2	liver
9	chr3:142466000-142469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:142466000-142488400	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:142466200-142474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:142466400-142478200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:142466400-142479000	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:142467000-142469800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:142467200-142469200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:142467200-142469600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:142467200-142470600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:142467600-142469600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:142467800-142503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:142468000-142470000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr3:142468000-142486800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr3:142468200-142469800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:142468200-142470000	Weak transcription	Brain Substantia Nigra	brain
24	chr3:142468200-142486800	Weak transcription	Brain Anterior Caudate	brain
25	chr3:142468200-142487600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:142468200-142489800	Weak transcription	Ovary	ovary
27	chr3:142468200-142511000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:142468200-142525200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:142468400-142469800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:142468400-142471000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:142468400-142471200	Weak transcription	Osteobl	bone
32	chr3:142468400-142475200	Weak transcription	HMEC	breast
33	chr3:142468400-142480400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:142468400-142480800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:142468400-142483000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:142468400-142483200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:142468400-142484000	Weak transcription	Fetal Lung	lung
38	chr3:142468400-142488200	Weak transcription	A549	lung
39	chr3:142468400-142489800	Weak transcription	NH-A	brain
40	chr3:142468400-142498000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:142468400-142501400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr3:142468400-142501400	Weak transcription	HSMM	muscle
43	chr3:142468400-142501600	Weak transcription	Left Ventricle	heart
44	chr3:142468400-142508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:142468400-142525200	Weak transcription	Fetal Brain Male	brain
46	chr3:142468400-142526800	Weak transcription	NHDF-Ad	bronchial
47	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
48	chr3:142468600-142470200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:142468600-142474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr3:142468600-142484000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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