Variant report

Variant	rs27773
Chromosome Location	chr5:58535285-58535286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs153985	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs181915	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs255557	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26689	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26694	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26700	0.96[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs26703	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26710	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs26713	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs26714	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs26715	0.96[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs27549	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs27670	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27695	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs27957	0.96[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28054	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs28055	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35304	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35308	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35309	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs35310	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs455969	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs466742	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
3	chr5:58531000-58537600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:58531800-58535600	Enhancers	HUVEC	blood vessel
5	chr5:58532600-58540800	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:58532600-58541000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:58533200-58536800	Weak transcription	Osteobl	bone
8	chr5:58533200-58540800	Weak transcription	HSMMtube	muscle
9	chr5:58533400-58535600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:58533400-58537200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:58533600-58541000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:58533800-58538400	Enhancers	A549	lung
13	chr5:58534000-58538000	Weak transcription	Small Intestine	intestine
14	chr5:58534400-58536400	Weak transcription	Hela-S3	cervix
15	chr5:58534600-58536000	Enhancers	Rectal Smooth Muscle	rectum
16	chr5:58535000-58535400	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr5:58535000-58535400	Enhancers	Fetal Intestine Large	intestine
18	chr5:58535000-58535400	Enhancers	Left Ventricle	heart
19	chr5:58535000-58535400	Enhancers	Right Atrium	heart
20	chr5:58535000-58535600	Enhancers	Brain Hippocampus Middle	brain
21	chr5:58535000-58535600	Enhancers	Psoas Muscle	Psoas
22	chr5:58535000-58535600	Enhancers	Right Ventricle	heart
23	chr5:58535000-58535800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:58535000-58536000	Enhancers	Brain Substantia Nigra	brain
25	chr5:58535200-58535800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:58535200-58535800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:58535200-58537600	Enhancers	Fetal Heart	heart
28	chr5:58535200-58538800	Enhancers	Skeletal Muscle Male	skeletal muscle

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