Variant report

Variant	rs244571
Chromosome Location	chr5:58622370-58622371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs153981	0.81[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs255648	0.88[CEU][hapmap];1.00[JPT][hapmap];0.91[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	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
2	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
3	nsv1030117	chr5:58587672-58637179	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers 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	chr5:58612800-58627200	Weak transcription	Aorta	Aorta
2	chr5:58613600-58626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58613600-58628600	Weak transcription	Gastric	stomach
4	chr5:58613800-58622600	Weak transcription	Fetal Brain Female	brain
5	chr5:58614000-58624600	Weak transcription	Fetal Stomach	stomach
6	chr5:58616200-58623000	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:58616200-58624600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:58617200-58622600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58617600-58624600	Weak transcription	Left Ventricle	heart
10	chr5:58618600-58624600	Weak transcription	Right Atrium	heart
11	chr5:58618800-58623200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:58618800-58624400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:58618800-58629000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:58619200-58623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:58619200-58624000	Weak transcription	Fetal Kidney	kidney
16	chr5:58619200-58624200	Weak transcription	Hela-S3	cervix
17	chr5:58619200-58624400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:58619400-58625400	Weak transcription	Fetal Intestine Large	intestine
19	chr5:58620200-58623000	Weak transcription	Psoas Muscle	Psoas
20	chr5:58620400-58622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:58620800-58622800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:58620800-58623200	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:58621200-58624200	Weak transcription	Fetal Intestine Small	intestine
24	chr5:58621400-58626200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:58621600-58622400	Weak transcription	A549	lung
26	chr5:58622200-58623400	Enhancers	Fetal Heart	heart
27	chr5:58622200-58625000	Enhancers	Fetal Brain Male	brain
28	chr5:58622200-58625400	Enhancers	Fetal Lung	lung

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