Variant report

Variant	rs56370917
Chromosome Location	chr2:74418011-74418012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs56067994	1.00[EUR][1000 genomes]
rs57421736	1.00[EUR][1000 genomes]
rs61023892	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715861	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6737355	0.87[AFR][1000 genomes]
rs6749199	1.00[EUR][1000 genomes]
rs73948705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73948708	0.88[AFR][1000 genomes]
rs73952061	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73952063	1.00[EUR][1000 genomes]
rs7562660	1.00[EUR][1000 genomes]
rs7598273	1.00[AMR][1000 genomes];1.00[EUR][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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 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	chr2:74409200-74419800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:74415600-74418400	Weak transcription	Pancreas	Pancrea
3	chr2:74415600-74418800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:74415600-74419000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:74415600-74419000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:74415600-74419200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:74415600-74419400	Weak transcription	K562	blood
8	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:74415800-74418200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:74415800-74418800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:74415800-74418800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:74415800-74418800	Weak transcription	HepG2	liver
14	chr2:74415800-74419000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:74415800-74419400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:74415800-74419600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:74417200-74425000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:74417600-74418400	Enhancers	Hela-S3	cervix
19	chr2:74417600-74425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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