Variant report

Variant	rs56127730
Chromosome Location	chr2:10354483-10354484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16855971	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2357469	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55808563	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55832144	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57628045	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58256613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60317589	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6432077	0.84[EUR][1000 genomes]
rs7560884	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7601250	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7601679	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][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	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv34981	chr2:10341468-10384302	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv35171	chr2:10341468-10384302	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756904	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv2759024	chr2:10347142-10406706	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv873637	chr2:10349858-10381434	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv962058	chr2:10350771-10376962	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv873638	chr2:10351852-10381434	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
2	chr2:10343600-10360400	Weak transcription	HSMM	muscle
3	chr2:10347400-10356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:10349800-10359400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10349800-10362400	Weak transcription	Spleen	Spleen
6	chr2:10350400-10375200	Weak transcription	Right Atrium	heart
7	chr2:10351800-10357400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:10352600-10356200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:10354400-10354600	Enhancers	HepG2	liver
10	chr2:10354400-10354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:10354400-10355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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