Variant report

Variant	rs73578291
Chromosome Location	chr19:53073959-53073960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:53073504..53075016-chr19:53086712..53089202,2	MCF-7	breast:
2	chr19:53073369..53074894-chr19:53098457..53100751,2	MCF-7	breast:
3	chr19:53029127..53032188-chr19:53072538..53075129,3	K562	blood:
4	chr19:53029450..53032188-chr19:53072538..53074123,2	K562	blood:

Variant related genes	Relation type
ENSG00000123870	Chromatin interaction
ENSG00000268886	Chromatin interaction
ENSG00000198482	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60194947	1.00[AMR][1000 genomes]
rs73576294	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription 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	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
2	chr19:53072400-53074000	Active TSS	Osteobl	bone
3	chr19:53072400-53074200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr19:53072600-53074000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr19:53072600-53074000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:53072600-53074000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:53072600-53074400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:53072600-53074600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:53072600-53074600	Active TSS	Fetal Brain Female	brain
10	chr19:53072800-53074000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:53072800-53074000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr19:53072800-53074000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:53072800-53074000	Active TSS	Brain Angular Gyrus	brain
14	chr19:53072800-53074000	Active TSS	Brain Hippocampus Middle	brain
15	chr19:53072800-53074000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr19:53072800-53074000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:53072800-53074000	Active TSS	Colon Smooth Muscle	Colon
18	chr19:53072800-53074000	Active TSS	Fetal Brain Male	brain
19	chr19:53072800-53074000	Active TSS	Placenta Amnion	Placenta Amnion
20	chr19:53072800-53074000	Active TSS	Rectal Smooth Muscle	rectum
21	chr19:53072800-53074000	Active TSS	Right Atrium	heart
22	chr19:53072800-53074000	Active TSS	HSMM	muscle
23	chr19:53072800-53074200	Active TSS	Left Ventricle	heart
24	chr19:53072800-53074400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:53072800-53074400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:53072800-53074400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:53072800-53074400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:53072800-53074400	Active TSS	Brain Anterior Caudate	brain
29	chr19:53072800-53074400	Active TSS	Brain Germinal Matrix	brain
30	chr19:53072800-53074400	Active TSS	Fetal Intestine Large	intestine
31	chr19:53072800-53074400	Active TSS	Fetal Kidney	kidney
32	chr19:53072800-53074400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr19:53072800-53074400	Active TSS	Fetal Stomach	stomach
34	chr19:53072800-53074400	Active TSS	Stomach Smooth Muscle	stomach
35	chr19:53072800-53074400	Active TSS	HSMMtube	muscle
36	chr19:53072800-53074600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr19:53072800-53074600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:53072800-53074600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:53072800-53074600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr19:53072800-53074600	Active TSS	HepG2	liver
41	chr19:53072800-53074600	Active TSS	NHLF	lung
42	chr19:53072800-53074800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:53072800-53074800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:53072800-53075000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:53072800-53075000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr19:53073000-53074000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:53073000-53074000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:53073000-53074000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr19:53073000-53074000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:53073000-53074000	Active TSS	Primary T killer memory cells from peripheral blood	blood

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