Variant report

Variant	rs27723
Chromosome Location	chr5:58564232-58564233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs26687	0.81[CEU][hapmap]
rs26701	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs26702	0.83[CHB][hapmap]
rs26704	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs26711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26712	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27187	0.81[CEU][hapmap]
rs27547	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs27548	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs35307	0.87[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:58558400-58564400	Enhancers	Fetal Heart	heart
3	chr5:58560200-58566600	Enhancers	Rectal Smooth Muscle	rectum
4	chr5:58560400-58570000	Weak transcription	Fetal Lung	lung
5	chr5:58561000-58569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:58561000-58571000	Weak transcription	Left Ventricle	heart
7	chr5:58562000-58565400	Enhancers	Colon Smooth Muscle	Colon
8	chr5:58562800-58568800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:58563000-58568200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:58563000-58568200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:58563000-58568800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:58563000-58569000	Weak transcription	Psoas Muscle	Psoas
13	chr5:58563200-58566400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:58563600-58564400	Enhancers	Stomach Mucosa	stomach
15	chr5:58563600-58566800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:58563800-58568600	Weak transcription	Fetal Intestine Large	intestine
17	chr5:58564000-58564400	Flanking Active TSS	Hela-S3	cervix
18	chr5:58564000-58564600	Genic enhancers	A549	lung
19	chr5:58564200-58564400	Enhancers	Pancreas	Pancrea

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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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