Variant report

Variant	rs255634
Chromosome Location	chr5:58595894-58595895
allele	A/G
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	0.85[ASN][1000 genomes]
rs255635	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255653	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2591651	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs549097	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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:36 , 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	chr5:58591600-58596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:58591600-58597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:58592800-58597800	Weak transcription	Left Ventricle	heart
6	chr5:58593000-58611200	Weak transcription	Right Ventricle	heart
7	chr5:58593200-58596600	Weak transcription	HSMMtube	muscle
8	chr5:58593200-58598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
10	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:58593400-58596600	Weak transcription	HSMM	muscle
12	chr5:58593400-58597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:58593800-58596400	Weak transcription	Fetal Intestine Large	intestine
14	chr5:58593800-58604800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:58594000-58596400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
17	chr5:58594200-58596400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:58594400-58606000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:58594800-58597000	Active TSS	Hela-S3	cervix
20	chr5:58595000-58596600	Weak transcription	Colonic Mucosa	Colon
21	chr5:58595200-58596400	Weak transcription	Psoas Muscle	Psoas
22	chr5:58595200-58596600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:58595200-58596600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:58595200-58596800	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:58595200-58597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:58595400-58596400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:58595400-58596400	Weak transcription	Placenta	Placenta
28	chr5:58595400-58596600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:58595400-58596800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:58595400-58596800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:58595400-58604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:58595600-58596600	Enhancers	A549	lung
33	chr5:58595600-58597400	Weak transcription	Fetal Heart	heart
34	chr5:58595600-58597800	Weak transcription	HMEC	breast
35	chr5:58595600-58609000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:58595800-58596200	Weak transcription	HUVEC	blood vessel

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