Variant report

Variant	rs58388061
Chromosome Location	chr4:106656614-106656615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10019217	0.81[ASN][1000 genomes]
rs10049527	0.87[ASN][1000 genomes]
rs10516522	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11930244	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11930965	0.85[ASN][1000 genomes]
rs11936611	0.87[ASN][1000 genomes]
rs11942577	0.81[EUR][1000 genomes]
rs12504088	1.00[ASN][1000 genomes]
rs12511885	1.00[ASN][1000 genomes]
rs12512339	0.86[ASN][1000 genomes]
rs13110070	0.81[ASN][1000 genomes]
rs17036093	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036097	0.92[ASN][1000 genomes]
rs17036102	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17036158	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17036254	0.87[ASN][1000 genomes]
rs2193852	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2193853	0.97[ASN][1000 genomes]
rs2193854	0.85[ASN][1000 genomes]
rs28370551	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28391170	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs28450989	0.95[ASN][1000 genomes]
rs28559909	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28698939	0.81[ASN][1000 genomes]
rs3796926	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4235415	0.83[ASN][1000 genomes]
rs4490460	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4698950	0.88[ASN][1000 genomes]
rs4698951	0.97[ASN][1000 genomes]
rs4699192	0.81[ASN][1000 genomes]
rs4699193	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699194	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699195	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699197	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699198	0.95[ASN][1000 genomes]
rs4699199	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59961848	0.90[ASN][1000 genomes]
rs60774107	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60861135	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6817029	0.83[ASN][1000 genomes]
rs6820671	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6825379	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6826631	0.87[ASN][1000 genomes]
rs6829915	0.81[ASN][1000 genomes]
rs6843771	0.87[ASN][1000 genomes]
rs7658055	0.87[ASN][1000 genomes]
rs7659526	0.95[ASN][1000 genomes]
rs7665588	0.97[ASN][1000 genomes]
rs7696836	0.81[ASN][1000 genomes]
rs7697619	0.88[AFR][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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106630800-106658400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:106631000-106658200	Weak transcription	Right Ventricle	heart
3	chr4:106631000-106659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:106631400-106658800	Weak transcription	A549	lung
7	chr4:106634000-106693200	Weak transcription	K562	blood
8	chr4:106635600-106656800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:106635600-106658400	Weak transcription	Osteobl	bone
10	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
11	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:106636200-106658800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:106636400-106656800	Weak transcription	NHEK	skin
14	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:106643000-106662600	Weak transcription	Fetal Kidney	kidney
16	chr4:106645400-106658800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:106647200-106656800	Weak transcription	Brain Substantia Nigra	brain
18	chr4:106648000-106669800	Weak transcription	HSMM	muscle
19	chr4:106648200-106658800	Weak transcription	Fetal Brain Male	brain
20	chr4:106650800-106656800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:106651400-106656800	Weak transcription	Dnd41	blood
22	chr4:106652200-106657400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:106654400-106659600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:106654600-106660000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr4:106655000-106657000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr4:106655400-106657000	ZNF genes & repeats	Fetal Lung	lung
27	chr4:106655600-106656800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:106655600-106657000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:106655600-106657800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
30	chr4:106655600-106658000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr4:106655600-106659400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr4:106655600-106659800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr4:106655800-106657000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:106655800-106657000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:106655800-106657000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:106655800-106657000	ZNF genes & repeats	Liver	Liver
37	chr4:106655800-106657200	ZNF genes & repeats	Fetal Brain Female	brain
38	chr4:106655800-106658400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:106655800-106659400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr4:106656000-106657000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:106656000-106657000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
42	chr4:106656000-106657000	ZNF genes & repeats	Fetal Stomach	stomach
43	chr4:106656000-106657000	ZNF genes & repeats	Ovary	ovary
44	chr4:106656000-106658000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:106656200-106656800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:106656200-106657000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:106656200-106657000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr4:106656200-106657000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:106656200-106657000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
50	chr4:106656200-106657000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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