Variant report

Variant	rs255633
Chromosome Location	chr5:58596528-58596529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1457146	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs149106	0.88[ASN][1000 genomes]
rs153948	0.85[ASN][1000 genomes]
rs153949	0.89[ASN][1000 genomes]
rs171729	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs255647	0.85[CHB][hapmap]
rs255649	0.80[EUR][1000 genomes]
rs255650	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs255655	0.96[CEU][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256750	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256752	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26694	0.81[YRI][hapmap]
rs26703	0.81[YRI][hapmap]
rs26710	0.84[YRI][hapmap]
rs26714	0.84[YRI][hapmap]
rs26715	0.87[YRI][hapmap]
rs27170	0.89[CEU][hapmap];0.80[CHB][hapmap]
rs27178	0.80[CHB][hapmap];0.88[ASN][1000 genomes]
rs27183	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs27184	0.85[ASN][1000 genomes]
rs27395	0.88[ASN][1000 genomes]
rs27670	0.87[YRI][hapmap]
rs27695	0.87[YRI][hapmap]
rs34739	1.00[JPT][hapmap]
rs37353	0.92[CEU][hapmap]
rs40444	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58591600-58597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:58592800-58597800	Weak transcription	Left Ventricle	heart
3	chr5:58593000-58611200	Weak transcription	Right Ventricle	heart
4	chr5:58593200-58596600	Weak transcription	HSMMtube	muscle
5	chr5:58593200-58598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
7	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:58593400-58596600	Weak transcription	HSMM	muscle
9	chr5:58593400-58597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:58593800-58604800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
12	chr5:58594400-58606000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:58594800-58597000	Active TSS	Hela-S3	cervix
14	chr5:58595000-58596600	Weak transcription	Colonic Mucosa	Colon
15	chr5:58595200-58596600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:58595200-58596600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:58595200-58596800	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:58595200-58597600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:58595400-58596600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:58595400-58596800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:58595400-58596800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:58595400-58604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:58595600-58596600	Enhancers	A549	lung
24	chr5:58595600-58597400	Weak transcription	Fetal Heart	heart
25	chr5:58595600-58597800	Weak transcription	HMEC	breast
26	chr5:58595600-58609000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:58596200-58598000	Enhancers	HUVEC	blood vessel
28	chr5:58596400-58597000	Enhancers	Psoas Muscle	Psoas
29	chr5:58596400-58597800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:58596400-58598000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:58596400-58598000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:58596400-58598000	Enhancers	Fetal Intestine Large	intestine
33	chr5:58596400-58598000	Enhancers	Fetal Intestine Small	intestine
34	chr5:58596400-58598000	Enhancers	Placenta	Placenta
35	chr5:58596400-58598000	Enhancers	Rectal Mucosa Donor 31	rectum

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