Variant report

Variant	rs73119716
Chromosome Location	chr1:223802316-223802317
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57974517	1.00[AFR][1000 genomes]
rs73119721	1.00[AFR][1000 genomes]
rs73119734	1.00[AFR][1000 genomes]
rs73125619	1.00[AFR][1000 genomes]
rs73125630	1.00[AFR][1000 genomes]
rs73125695	1.00[AFR][1000 genomes]
rs73125697	1.00[AFR][1000 genomes]
rs73127609	1.00[AFR][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv873209	chr1:223707647-223846564	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873210	chr1:223707647-223856414	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873211	chr1:223707647-223867631	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:223796800-223811800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:223797000-223805600	Weak transcription	Lung	lung
3	chr1:223799400-223815400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:223799800-223806000	Weak transcription	Fetal Stomach	stomach
5	chr1:223800000-223803200	Weak transcription	Esophagus	oesophagus
6	chr1:223800200-223805400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:223800200-223805600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:223800400-223805400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:223800600-223805600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:223801400-223803000	Weak transcription	Stomach Mucosa	stomach
11	chr1:223802200-223804000	Strong transcription	Gastric	stomach

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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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