Variant report

Variant	rs2022442
Chromosome Location	chr1:210928316-210928317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12562303	0.95[ASN][1000 genomes]
rs12562536	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12563193	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566234	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1538755	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4951576	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951591	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55723924	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56849437	0.92[ASN][1000 genomes]
rs57144255	0.95[ASN][1000 genomes]
rs59441822	0.95[ASN][1000 genomes]
rs59843981	0.96[ASN][1000 genomes]
rs74156047	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74156059	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74156061	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74156063	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74156064	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9430047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430049	1.00[EUR][1000 genomes];1.00[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210917400-210930800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:210919800-210928600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:210921600-210931400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:210923800-210928600	Weak transcription	HSMMtube	muscle
6	chr1:210926000-210928600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:210926600-210928400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:210926600-210928400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:210927800-210930000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:210928000-210930200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:210928200-210928600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:210928200-210928600	Enhancers	Esophagus	oesophagus
13	chr1:210928200-210928800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:210928200-210929000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:210928200-210929000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:210928200-210929000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:210928200-210929000	Enhancers	Brain Angular Gyrus	brain
18	chr1:210928200-210929200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:210928200-210929200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:210928200-210929200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:210928200-210929200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:210928200-210929600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:210928200-210929600	Enhancers	Brain Anterior Caudate	brain
24	chr1:210928200-210930000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:210928200-210930000	Enhancers	Brain Hippocampus Middle	brain
26	chr1:210928200-210930600	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:210928200-210930600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:210928200-210930600	Enhancers	Fetal Brain Male	brain

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