Variant report

Variant	rs10055869
Chromosome Location	chr5:58555439-58555440
allele	A/G
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]
rs10038855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10039990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10045441	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs13169097	1.00[CHB][hapmap]
rs13354612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16889508	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs16889512	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2277014	1.00[JPT][hapmap]
rs4618401	0.82[AFR][1000 genomes]
rs9292199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9292200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	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
3	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:34 , 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	chr5:58552200-58556800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:58552400-58558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:58552600-58556600	Weak transcription	Brain Angular Gyrus	brain
9	chr5:58552600-58560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:58553400-58560000	Weak transcription	Fetal Lung	lung
11	chr5:58553600-58556600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58553800-58558400	Weak transcription	Left Ventricle	heart
13	chr5:58553800-58558400	Weak transcription	Right Atrium	heart
14	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:58554200-58556800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:58554200-58556800	Weak transcription	Fetal Intestine Large	intestine
17	chr5:58554200-58556800	Weak transcription	Fetal Intestine Small	intestine
18	chr5:58554200-58556800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:58554200-58557000	Weak transcription	Fetal Kidney	kidney
20	chr5:58554200-58558400	Weak transcription	Psoas Muscle	Psoas
21	chr5:58554200-58559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:58554200-58561000	Weak transcription	Stomach Mucosa	stomach
23	chr5:58554200-58562600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:58554400-58558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:58554800-58556200	Enhancers	Fetal Heart	heart
26	chr5:58554800-58557400	Flanking Active TSS	A549	lung
27	chr5:58555000-58555800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:58555000-58555800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:58555000-58555800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:58555000-58556000	Enhancers	Fetal Brain Male	brain
31	chr5:58555200-58556800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:58555200-58557000	Enhancers	Hela-S3	cervix
33	chr5:58555200-58557200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:58555400-58555600	Enhancers	Colon Smooth Muscle	Colon

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