Variant report

Variant	rs7723289
Chromosome Location	chr5:58765014-58765015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28424104	1.00[AMR][1000 genomes]
rs28508065	1.00[AMR][1000 genomes]
rs28571683	0.83[AMR][1000 genomes]
rs73758981	0.83[AMR][1000 genomes]
rs73761526	0.83[AMR][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	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58753600-58767400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58754600-58780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58756800-58766800	Weak transcription	Gastric	stomach
4	chr5:58756800-58775400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:58756800-58775600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:58759600-58768000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:58761200-58765400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:58762000-58778800	Weak transcription	Aorta	Aorta
9	chr5:58762200-58766000	Enhancers	Fetal Brain Male	brain
10	chr5:58762600-58780600	Weak transcription	Fetal Lung	lung
11	chr5:58762800-58767400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:58763000-58766800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:58763000-58766800	Weak transcription	Psoas Muscle	Psoas
14	chr5:58763000-58767400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:58763400-58768000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:58764000-58766400	Genic enhancers	A549	lung
17	chr5:58764200-58767200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:58764400-58765800	Enhancers	Fetal Brain Female	brain
19	chr5:58764600-58766000	Enhancers	Brain Substantia Nigra	brain

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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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