Variant report

Variant	rs73930303
Chromosome Location	chr2:50424808-50424809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1520520	1.00[AFR][1000 genomes]
rs17040158	1.00[AFR][1000 genomes]
rs28491293	0.82[AFR][1000 genomes]
rs56254849	0.98[AFR][1000 genomes]
rs56811855	0.98[AFR][1000 genomes]
rs58177353	0.98[AFR][1000 genomes]
rs60140891	0.98[AFR][1000 genomes]
rs60761685	0.98[AFR][1000 genomes]
rs60835435	0.98[AFR][1000 genomes]
rs61340936	0.93[AFR][1000 genomes]
rs61614884	1.00[AFR][1000 genomes]
rs73930306	0.98[AFR][1000 genomes]
rs73930307	0.98[AFR][1000 genomes]
rs73930314	0.91[AFR][1000 genomes]
rs73932964	0.95[AFR][1000 genomes]
rs73932974	0.82[AFR][1000 genomes]
rs73932982	1.00[AFR][1000 genomes]
rs73932984	1.00[AFR][1000 genomes]
rs73932985	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv581839	chr2:50409803-50438701	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:50420400-50426000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:50423000-50425600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr2:50423200-50425400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:50423200-50426000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:50423400-50426000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:50423800-50425000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:50423800-50425000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:50424400-50425000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:50424600-50425000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:50424600-50426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:50424800-50425800	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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