Variant report

Variant	rs1920393
Chromosome Location	chr3:150940329-150940330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10513387	1.00[ASN][1000 genomes]
rs13321176	0.89[EUR][1000 genomes]
rs13322794	1.00[ASN][1000 genomes]
rs1549829	1.00[ASN][1000 genomes]
rs1554120	1.00[ASN][1000 genomes]
rs17290219	1.00[ASN][1000 genomes]
rs17304673	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28810515	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28831788	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6773020	1.00[ASN][1000 genomes]
rs6780660	0.84[EUR][1000 genomes]
rs6792089	0.84[EUR][1000 genomes]
rs722133	1.00[ASN][1000 genomes]
rs73155751	1.00[ASN][1000 genomes]
rs73155773	1.00[ASN][1000 genomes]
rs73157938	0.83[EUR][1000 genomes]
rs73157954	0.82[EUR][1000 genomes]
rs7614811	1.00[ASN][1000 genomes]
rs9814936	0.82[EUR][1000 genomes]
rs9817216	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818251	1.00[ASN][1000 genomes]
rs9821749	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9821937	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831242	0.90[EUR][1000 genomes]
rs9836053	1.00[ASN][1000 genomes]
rs9850762	1.00[ASN][1000 genomes]
rs9853676	0.89[EUR][1000 genomes]
rs9854017	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854126	1.00[ASN][1000 genomes]
rs9859854	0.82[EUR][1000 genomes]
rs9868643	0.85[EUR][1000 genomes]
rs9871229	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871624	0.81[EUR][1000 genomes]
rs9875587	0.80[EUR][1000 genomes]
rs9880395	0.82[EUR][1000 genomes]
rs9881116	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460894	chr3:150770614-151095093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv592045	chr3:150770614-151095093	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2757897	chr3:150791625-150957485	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2759188	chr3:150791625-150957485	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150878000-150946000	Weak transcription	Placenta	Placenta
2	chr3:150928800-150943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:150928800-150946200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:150928800-150952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:150928800-150953000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:150929000-150943200	Weak transcription	Psoas Muscle	Psoas
7	chr3:150929000-150945200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:150929200-150945400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:150932200-150942800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr3:150932600-150946200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:150935400-150946200	Weak transcription	Aorta	Aorta
12	chr3:150935600-150944000	Weak transcription	Fetal Stomach	stomach
13	chr3:150935600-150945200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:150935600-150945400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:150937000-150942200	Weak transcription	Liver	Liver
16	chr3:150937600-150944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:150937600-150944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:150937800-150945200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:150938200-150945800	Weak transcription	Fetal Heart	heart
20	chr3:150938600-150940600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:150938600-150948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:150939000-150940400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:150939600-150945200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:150939800-150940400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr3:150939800-150941800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:150939800-150945200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:150940000-150943000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:150940000-150945400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:150940000-150945400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:150940000-150945400	Weak transcription	Fetal Intestine Small	intestine
31	chr3:150940200-150941400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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