Variant report

Variant	rs72771623
Chromosome Location	chr2:10399075-10399076
allele	C/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:13)

rs_ID	r²[population]
rs11886933	1.00[ASN][1000 genomes]
rs4669559	1.00[ASN][1000 genomes]
rs55902618	1.00[ASN][1000 genomes]
rs56277911	1.00[ASN][1000 genomes]
rs57031421	1.00[ASN][1000 genomes]
rs6716517	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72771625	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7586930	1.00[ASN][1000 genomes]
rs7591484	1.00[ASN][1000 genomes]
rs7601478	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
4	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv873640	chr2:10385097-10422342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr2:10392800-10399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:10392800-10407600	Weak transcription	Gastric	stomach
3	chr2:10395200-10399800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:10395200-10400400	Weak transcription	HSMM	muscle
5	chr2:10395200-10401200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:10396200-10400200	Weak transcription	Hela-S3	cervix
7	chr2:10396600-10407800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:10397200-10400000	Weak transcription	HSMMtube	muscle
9	chr2:10397800-10401400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:10398400-10401600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:10398800-10400200	Enhancers	Fetal Muscle Leg	muscle

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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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