Variant report

Variant	rs26712
Chromosome Location	chr5:58557390-58557391
allele	A/G
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:11)

rs_ID	r²[population]
rs26687	0.82[CEU][hapmap]
rs26688	0.85[ASN][1000 genomes]
rs26701	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs26702	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs26704	0.94[CHB][hapmap]
rs26711	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs27187	0.82[CEU][hapmap]
rs27547	0.82[CEU][hapmap]
rs27548	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs27723	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]
rs35307	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[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	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58541200-58558400	Weak transcription	Pancreas	Pancrea
2	chr5:58541600-58560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:58541600-58562400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:58541800-58562800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:58551400-58557600	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:58552400-58558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:58552600-58560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:58553400-58560000	Weak transcription	Fetal Lung	lung
9	chr5:58553800-58558400	Weak transcription	Left Ventricle	heart
10	chr5:58553800-58558400	Weak transcription	Right Atrium	heart
11	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:58554200-58558400	Weak transcription	Psoas Muscle	Psoas
13	chr5:58554200-58559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:58554200-58561000	Weak transcription	Stomach Mucosa	stomach
15	chr5:58554200-58562600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:58554400-58558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:58554800-58557400	Flanking Active TSS	A549	lung
18	chr5:58555800-58557800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:58555800-58558600	Enhancers	Colon Smooth Muscle	Colon
20	chr5:58556200-58558400	Weak transcription	Fetal Heart	heart
21	chr5:58556600-58558200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:58556800-58557400	Enhancers	Fetal Intestine Small	intestine
23	chr5:58556800-58558000	Enhancers	Fetal Intestine Large	intestine
24	chr5:58556800-58558600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:58557000-58559200	Weak transcription	Hela-S3	cervix
26	chr5:58557200-58557800	Weak transcription	Fetal Kidney	kidney
27	chr5:58557200-58558200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:58557200-58560000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:58557200-58560600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:58557200-58562400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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