Variant report

Variant	rs255635
Chromosome Location	chr5:58595174-58595175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs154221	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs255634	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255653	0.95[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2591651	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs549097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58583600-58596400	Weak transcription	Esophagus	oesophagus
2	chr5:58584000-58596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58591200-58595600	Enhancers	Fetal Heart	heart
4	chr5:58591600-58596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:58591600-58597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:58592800-58597800	Weak transcription	Left Ventricle	heart
7	chr5:58593000-58611200	Weak transcription	Right Ventricle	heart
8	chr5:58593200-58595200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:58593200-58595400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:58593200-58595400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:58593200-58595600	Enhancers	Colon Smooth Muscle	Colon
12	chr5:58593200-58596600	Weak transcription	HSMMtube	muscle
13	chr5:58593200-58598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
15	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:58593400-58595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:58593400-58595400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:58593400-58595600	Enhancers	HMEC	breast
19	chr5:58593400-58595800	Enhancers	HUVEC	blood vessel
20	chr5:58593400-58596600	Weak transcription	HSMM	muscle
21	chr5:58593400-58597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:58593600-58595600	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:58593800-58595200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:58593800-58595600	Enhancers	NHEK	skin
25	chr5:58593800-58596400	Weak transcription	Fetal Intestine Large	intestine
26	chr5:58593800-58604800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:58594000-58595200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr5:58594000-58595200	Enhancers	Psoas Muscle	Psoas
29	chr5:58594000-58596400	Weak transcription	Fetal Intestine Small	intestine
30	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
31	chr5:58594200-58596400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:58594400-58606000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:58594800-58595200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:58594800-58595200	Enhancers	Fetal Kidney	kidney
35	chr5:58594800-58595200	Enhancers	Fetal Muscle Leg	muscle
36	chr5:58594800-58595400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:58594800-58595600	Flanking Active TSS	A549	lung
38	chr5:58594800-58597000	Active TSS	Hela-S3	cervix
39	chr5:58595000-58595200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:58595000-58595200	Enhancers	Adipose Nuclei	Adipose
41	chr5:58595000-58595200	Enhancers	Placenta	Placenta
42	chr5:58595000-58595200	Enhancers	Gastric	stomach
43	chr5:58595000-58595200	Enhancers	Right Atrium	heart
44	chr5:58595000-58595400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:58595000-58595400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:58595000-58596600	Weak transcription	Colonic Mucosa	Colon

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