Variant report

Variant	rs73023557
Chromosome Location	chr19:37690375-37690376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1148395	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1234256	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234258	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234261	0.96[ASN][1000 genomes]
rs170379	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs320878	0.87[ASN][1000 genomes]
rs320880	0.95[ASN][1000 genomes]
rs320890	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107480	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers 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	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37673200-37690600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:37680800-37695000	Weak transcription	HSMM	muscle
6	chr19:37680800-37700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:37680800-37700800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:37681000-37690800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:37681000-37695800	Weak transcription	NH-A	brain
10	chr19:37681000-37695800	Weak transcription	NHLF	lung
11	chr19:37681000-37700800	Weak transcription	HSMMtube	muscle
12	chr19:37681000-37700800	Weak transcription	HUVEC	blood vessel
13	chr19:37681000-37701000	Weak transcription	Fetal Heart	heart
14	chr19:37681200-37696600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:37681600-37690600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:37683200-37695200	Weak transcription	Brain Substantia Nigra	brain
17	chr19:37683400-37697400	Weak transcription	Fetal Brain Male	brain
18	chr19:37686800-37690800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:37686800-37690800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr19:37686800-37696600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:37686800-37699000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:37687000-37700800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:37687200-37690800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:37687400-37690600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:37687400-37690600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr19:37687400-37692200	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr19:37687400-37696000	Weak transcription	NHEK	skin
28	chr19:37687600-37690600	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:37687600-37690600	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr19:37687600-37698400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:37687800-37690600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:37688200-37695400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:37688600-37690400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr19:37688600-37690400	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr19:37688600-37690600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:37688600-37690600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr19:37688600-37690600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr19:37688600-37690600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:37688600-37690600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr19:37688600-37690600	Strong transcription	Osteobl	bone
41	chr19:37688600-37691200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr19:37688600-37692200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr19:37688600-37692200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr19:37688600-37692400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr19:37688600-37699000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:37688800-37690400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr19:37688800-37690600	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr19:37688800-37690600	Strong transcription	Colon Smooth Muscle	Colon
49	chr19:37688800-37690800	Strong transcription	Brain Germinal Matrix	brain
50	chr19:37688800-37690800	Strong transcription	Pancreatic Islets	Pancreatic Islet

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