Variant report

Variant	rs28783387
Chromosome Location	chr4:106658835-106658836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10004066	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016369	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033909	1.00[EUR][1000 genomes]
rs10034218	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498697	1.00[ASN][1000 genomes]
rs12500271	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12502682	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12503020	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2112052	1.00[ASN][1000 genomes]
rs28394843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28437813	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28579777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664632	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28712617	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28776340	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28804192	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71599072	1.00[ASN][1000 genomes]
rs9884977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9999670	1.00[EUR][1000 genomes];1.00[ASN][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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000947	chr4:106651153-106701679	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:106634000-106693200	Weak transcription	K562	blood
5	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
6	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:106643000-106662600	Weak transcription	Fetal Kidney	kidney
9	chr4:106648000-106669800	Weak transcription	HSMM	muscle
10	chr4:106654400-106659600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:106654600-106660000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr4:106655600-106659400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr4:106655600-106659800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr4:106655800-106659400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr4:106656200-106659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr4:106656200-106659400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr4:106656400-106659400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:106656600-106659600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:106657000-106659000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:106657000-106659000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:106657000-106659000	Weak transcription	Esophagus	oesophagus
22	chr4:106657000-106659000	Weak transcription	Fetal Stomach	stomach
23	chr4:106657000-106660200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:106657000-106660800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:106657000-106660800	Weak transcription	Thymus	Thymus
26	chr4:106657000-106661000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:106657000-106661000	Weak transcription	Fetal Intestine Small	intestine
28	chr4:106657000-106661000	Weak transcription	Fetal Thymus	thymus
29	chr4:106657000-106661000	Weak transcription	Pancreas	Pancrea
30	chr4:106657000-106661000	Weak transcription	Spleen	Spleen
31	chr4:106657000-106662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:106657000-106663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:106657000-106669800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:106657000-106669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:106657000-106670000	Weak transcription	Gastric	stomach
36	chr4:106657000-106670200	Weak transcription	Ovary	ovary
37	chr4:106657200-106659000	Strong transcription	Dnd41	blood
38	chr4:106657600-106659400	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr4:106657600-106659600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:106658000-106659000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:106658000-106659600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:106658000-106660200	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr4:106658400-106659400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:106658600-106659200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr4:106658600-106659400	ZNF genes & repeats	Aorta	Aorta
46	chr4:106658600-106661400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:106658800-106659200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:106658800-106659200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:106658800-106659200	ZNF genes & repeats	Fetal Lung	lung
50	chr4:106658800-106659200	ZNF genes & repeats	Left Ventricle	heart

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