Variant report

Variant	rs27547
Chromosome Location	chr5:58554904-58554905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs26711	0.82[CEU][hapmap]
rs26712	0.82[CEU][hapmap]
rs27723	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs27949	0.81[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.88[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:32 , 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	chr5:58549000-58555200	Weak transcription	Hela-S3	cervix
6	chr5:58551400-58557600	Enhancers	Rectal Smooth Muscle	rectum
7	chr5:58552200-58556800	Weak transcription	Brain Substantia Nigra	brain
8	chr5:58552400-58555200	Enhancers	Colon Smooth Muscle	Colon
9	chr5:58552400-58555200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:58552400-58558400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:58552600-58556600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:58552600-58560400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:58553200-58555000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:58553400-58560000	Weak transcription	Fetal Lung	lung
15	chr5:58553600-58556600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:58553800-58558400	Weak transcription	Left Ventricle	heart
17	chr5:58553800-58558400	Weak transcription	Right Atrium	heart
18	chr5:58553800-58568600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:58554200-58555200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:58554200-58556800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:58554200-58556800	Weak transcription	Fetal Intestine Large	intestine
22	chr5:58554200-58556800	Weak transcription	Fetal Intestine Small	intestine
23	chr5:58554200-58556800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:58554200-58557000	Weak transcription	Fetal Kidney	kidney
25	chr5:58554200-58558400	Weak transcription	Psoas Muscle	Psoas
26	chr5:58554200-58559600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:58554200-58561000	Weak transcription	Stomach Mucosa	stomach
28	chr5:58554200-58562600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:58554400-58555000	Weak transcription	HSMMtube	muscle
30	chr5:58554400-58558400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:58554800-58556200	Enhancers	Fetal Heart	heart
32	chr5:58554800-58557400	Flanking Active TSS	A549	lung

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