Variant report

Variant	rs256752
Chromosome Location	chr5:58597889-58597890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1457146	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs149106	0.87[ASN][1000 genomes]
rs153948	0.84[ASN][1000 genomes]
rs153949	0.88[ASN][1000 genomes]
rs171729	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs255633	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]
rs255647	0.85[CHB][hapmap]
rs255649	0.80[EUR][1000 genomes]
rs255650	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs255655	0.89[CEU][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256750	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26694	0.82[YRI][hapmap]
rs26703	0.82[YRI][hapmap]
rs26710	0.86[YRI][hapmap]
rs26714	0.86[YRI][hapmap]
rs26715	0.88[YRI][hapmap]
rs27170	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs27178	0.85[ASN][1000 genomes]
rs27183	0.80[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs27184	0.84[ASN][1000 genomes]
rs27395	0.85[ASN][1000 genomes]
rs27670	0.88[YRI][hapmap]
rs27695	0.88[YRI][hapmap]
rs34739	1.00[JPT][hapmap]
rs35310	0.81[YRI][hapmap]
rs37353	0.85[CEU][hapmap]
rs40444	0.92[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58593000-58611200	Weak transcription	Right Ventricle	heart
2	chr5:58593200-58598200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:58593200-58612600	Weak transcription	Fetal Lung	lung
4	chr5:58593200-58613400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:58593800-58604800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:58594000-58612800	Weak transcription	Stomach Mucosa	stomach
7	chr5:58594400-58606000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:58595400-58604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:58595600-58609000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:58596200-58598000	Enhancers	HUVEC	blood vessel
11	chr5:58596400-58598000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:58596400-58598000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:58596400-58598000	Enhancers	Fetal Intestine Large	intestine
14	chr5:58596400-58598000	Enhancers	Fetal Intestine Small	intestine
15	chr5:58596400-58598000	Enhancers	Placenta	Placenta
16	chr5:58596400-58598000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:58596600-58598000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:58597000-58607600	Weak transcription	Psoas Muscle	Psoas
19	chr5:58597400-58598000	Enhancers	Fetal Heart	heart
20	chr5:58597400-58598000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:58597400-58598200	Enhancers	A549	lung
22	chr5:58597600-58598000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:58597600-58598000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:58597800-58598000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:58597800-58598000	Enhancers	Left Ventricle	heart
26	chr5:58597800-58598000	Enhancers	HMEC	breast
27	chr5:58597800-58598200	Enhancers	Hela-S3	cervix
28	chr5:58597800-58604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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