Variant report

Variant	rs73065813
Chromosome Location	chr2:211054582-211054583
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10048697	1.00[AMR][1000 genomes]
rs1990513	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2192323	1.00[AMR][1000 genomes]
rs263677	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2887881	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58282165	0.84[AFR][1000 genomes]
rs58931716	0.84[AFR][1000 genomes]
rs6435553	1.00[AMR][1000 genomes]
rs6739292	1.00[AMR][1000 genomes]
rs73063910	0.84[AFR][1000 genomes]
rs73063916	0.84[AFR][1000 genomes]
rs73063929	0.84[AFR][1000 genomes]
rs73063945	0.84[AFR][1000 genomes]
rs73063963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065817	1.00[AFR][1000 genomes];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	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211046800-211059800	Weak transcription	Pancreas	Pancrea
2	chr2:211051000-211086600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:211052200-211055000	Enhancers	Dnd41	blood
4	chr2:211052200-211085600	Weak transcription	Aorta	Aorta
5	chr2:211052400-211067400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:211053000-211054600	Enhancers	Stomach Mucosa	stomach
7	chr2:211053600-211059800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:211053800-211059800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:211053800-211059800	Weak transcription	Fetal Thymus	thymus
10	chr2:211053800-211059800	Weak transcription	Thymus	Thymus
11	chr2:211054000-211055200	Enhancers	HepG2	liver
12	chr2:211054200-211054600	Enhancers	Fetal Intestine Small	intestine
13	chr2:211054200-211054800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:211054200-211055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:211054200-211055200	Enhancers	Fetal Kidney	kidney
16	chr2:211054400-211054600	Enhancers	Fetal Intestine Large	intestine
17	chr2:211054400-211054800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:211054400-211055000	Flanking Active TSS	Liver	Liver
19	chr2:211054400-211055000	Enhancers	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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