Variant report

Variant	rs17528543
Chromosome Location	chr5:58566627-58566628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10056619	1.00[ASN][1000 genomes]
rs12186633	1.00[CHD][hapmap]
rs16889276	1.00[ASN][1000 genomes]
rs16889495	0.83[TSI][hapmap]
rs16889508	0.83[TSI][hapmap]
rs16889512	0.87[CEU][hapmap];0.88[TSI][hapmap]
rs17528550	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17723785	0.87[CEU][hapmap];1.00[CHD][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17780860	1.00[CHD][hapmap]
rs2061282	0.81[TSI][hapmap]
rs244570	0.81[TSI][hapmap]
rs73104881	1.00[ASN][1000 genomes]
rs73106876	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:58560400-58570000	Weak transcription	Fetal Lung	lung
3	chr5:58561000-58569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:58561000-58571000	Weak transcription	Left Ventricle	heart
5	chr5:58562800-58568800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:58563000-58568200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:58563000-58568200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:58563000-58568800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:58563000-58569000	Weak transcription	Psoas Muscle	Psoas
10	chr5:58563600-58566800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:58563800-58568600	Weak transcription	Fetal Intestine Large	intestine
12	chr5:58564600-58567400	Transcr. at gene 5' and 3'	A549	lung
13	chr5:58565200-58571000	Weak transcription	Fetal Heart	heart
14	chr5:58565800-58567600	Active TSS	Hela-S3	cervix
15	chr5:58566400-58567600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr5:58566600-58567000	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:58566600-58568400	Weak transcription	Rectal Smooth Muscle	rectum

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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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