Variant report

Variant	rs73019062
Chromosome Location	chr1:150516857-150516858
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150484156..150491994-chr1:150515065..150519964,11	K562	blood:
2	chr1:150457373..150462421-chr1:150516063..150519767,6	K562	blood:
3	chr1:150505847..150507541-chr1:150516377..150518436,3	K562	blood:
4	chr1:150513813..150518269-chr1:150520912..150524275,6	MCF-7	breast:
5	chr1:150516666..150518845-chr1:150947087..150948952,2	K562	blood:
6	chr1:150206873..150208966-chr1:150516396..150518033,2	K562	blood:
7	chr1:150498015..150500360-chr1:150515129..150517476,2	K562	blood:
8	chr1:150484156..150487563-chr1:150516278..150519964,6	K562	blood:
9	chr1:150405436..150407762-chr1:150516210..150518329,2	K562	blood:
10	chr1:150503285..150505539-chr1:150516605..150518473,3	K562	blood:
11	chr1:150509600..150512584-chr1:150516373..150518037,3	K562	blood:
12	chr1:150515888..150518582-chr1:150592348..150594421,3	K562	blood:
13	chr1:150492880..150495279-chr1:150516728..150518247,2	K562	blood:
14	chr1:150516324..150518582-chr1:150592815..150594421,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143418	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000225996	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16835982	1.00[AMR][1000 genomes]
rs16836792	1.00[AMR][1000 genomes]
rs16841689	1.00[AMR][1000 genomes]
rs58820446	1.00[AMR][1000 genomes]
rs60845143	1.00[AMR][1000 genomes]
rs73008844	1.00[AMR][1000 genomes]
rs73008850	1.00[AMR][1000 genomes]
rs73017005	1.00[AMR][1000 genomes]
rs73017077	1.00[AMR][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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 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	chr1:150505600-150521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:150505800-150521000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:150511000-150518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:150511200-150521000	Weak transcription	A549	lung
5	chr1:150511400-150520800	Weak transcription	Hela-S3	cervix
6	chr1:150511400-150521000	Weak transcription	NHDF-Ad	bronchial
7	chr1:150511600-150521200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:150511800-150518000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:150512000-150517600	Weak transcription	Placenta	Placenta
10	chr1:150515200-150521000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:150516000-150517000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:150516000-150517000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:150516000-150517000	Enhancers	Fetal Muscle Leg	muscle
14	chr1:150516000-150517000	Enhancers	HSMM	muscle
15	chr1:150516000-150517000	Enhancers	HSMMtube	muscle
16	chr1:150516000-150517200	Enhancers	Fetal Stomach	stomach
17	chr1:150516000-150517600	Enhancers	K562	blood
18	chr1:150516200-150517000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:150516200-150517000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:150516200-150517000	Enhancers	Liver	Liver
21	chr1:150516200-150517000	Bivalent Enhancer	Osteobl	bone
22	chr1:150516400-150517000	Enhancers	Adipose Nuclei	Adipose
23	chr1:150516400-150517000	Enhancers	Stomach Mucosa	stomach
24	chr1:150516400-150521000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:150516400-150521000	Weak transcription	Right Atrium	heart
26	chr1:150516600-150517000	Enhancers	Brain Germinal Matrix	brain
27	chr1:150516600-150517200	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:150516600-150518000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:150516600-150518400	Enhancers	HepG2	liver
30	chr1:150516600-150520800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:150516600-150521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:150516600-150521000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:150516600-150521000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:150516600-150521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:150516600-150521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:150516800-150517200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:150516800-150517200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:150516800-150518000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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