Variant report

Variant	rs73038560
Chromosome Location	chr19:44461640-44461641
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	chr19:44453891..44455706-chr19:44461595..44463312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159905	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10164273	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10164282	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11666551	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11668687	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11669702	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11669713	0.82[EUR][1000 genomes]
rs11670342	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11671384	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11672243	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673170	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12185486	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2284243	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2356537	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs365745	0.82[ASN][1000 genomes]
rs366111	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs367358	0.82[ASN][1000 genomes]
rs380242	0.81[ASN][1000 genomes]
rs425200	0.82[ASN][1000 genomes]
rs436788	0.82[ASN][1000 genomes]
rs437058	0.82[ASN][1000 genomes]
rs437067	0.82[ASN][1000 genomes]
rs441794	0.82[ASN][1000 genomes]
rs452238	0.82[ASN][1000 genomes]
rs454218	0.82[ASN][1000 genomes]
rs458647	0.82[ASN][1000 genomes]
rs460071	0.82[ASN][1000 genomes]
rs462417	0.82[ASN][1000 genomes]
rs55738725	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs612663	0.81[ASN][1000 genomes]
rs61734609	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72480789	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73035922	0.89[ASN][1000 genomes]
rs73036788	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73036792	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73036793	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73036801	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73038506	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73038508	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73038515	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73038526	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73038529	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038539	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038543	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73038602	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73050193	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73050195	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73051806	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73051810	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73051815	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73051825	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73051828	0.90[EUR][1000 genomes];0.93[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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv579854	chr19:44411543-44490024	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv912109	chr19:44459074-44493142	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44456000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:44456000-44462200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:44456000-44463200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:44456000-44464600	Weak transcription	Pancreas	Pancrea
5	chr19:44456000-44464600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:44456200-44476600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr19:44456400-44462000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:44456400-44464200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:44456400-44465600	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:44456400-44479600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:44456400-44487800	ZNF genes & repeats	Liver	Liver
12	chr19:44456600-44461800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:44456600-44461800	Weak transcription	HepG2	liver
14	chr19:44456600-44462600	Weak transcription	HSMMtube	muscle
15	chr19:44456600-44463200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:44456600-44464600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:44456600-44475200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:44456800-44463400	Weak transcription	Fetal Heart	heart
19	chr19:44456800-44466200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:44457000-44463400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:44459600-44461800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:44459600-44462600	Weak transcription	Colonic Mucosa	Colon
23	chr19:44459600-44464200	Weak transcription	Brain Angular Gyrus	brain
24	chr19:44459800-44462200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:44459800-44462400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:44459800-44462400	Weak transcription	Fetal Stomach	stomach
27	chr19:44459800-44463400	Weak transcription	Right Ventricle	heart
28	chr19:44460000-44462000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:44460000-44462200	Weak transcription	Fetal Brain Male	brain
30	chr19:44460000-44462600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:44460000-44467400	Weak transcription	HSMM	muscle
32	chr19:44460200-44462000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:44460400-44462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:44461000-44462200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:44461200-44462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:44461400-44465600	ZNF genes & repeats	Ovary	ovary
37	chr19:44461600-44462800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:44461600-44462800	Enhancers	NHLF	lung

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