Variant report

Variant	rs720273
Chromosome Location	chr15:59024527-59024528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59023017..59026002-chr15:59026211..59028184,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12102264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes]
rs12591291	1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap]
rs16940594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16940629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs16940682	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16940684	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16940725	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17236229	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28420235	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57887445	0.84[ASN][1000 genomes]
rs58102191	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58335185	0.87[EUR][1000 genomes]
rs59962817	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7162921	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7168421	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.84[MKK][hapmap]
rs7172364	1.00[CEU][hapmap]
rs7176539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7177823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap]
rs74017267	0.82[ASN][1000 genomes]
rs74017282	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs74017291	0.84[ASN][1000 genomes]
rs74017299	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74021003	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74021004	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8026646	1.00[CEU][hapmap]
rs8027622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039750	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
4	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr15:59009800-59035400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:59010800-59031200	Weak transcription	Dnd41	blood
8	chr15:59013200-59030200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:59013400-59029800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:59016800-59025000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:59016800-59034200	Weak transcription	Brain Germinal Matrix	brain
12	chr15:59017200-59027400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:59017200-59034400	Weak transcription	Fetal Kidney	kidney
14	chr15:59017400-59029000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:59019800-59024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:59021000-59025600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr15:59021600-59025600	Enhancers	Left Ventricle	heart
18	chr15:59021600-59025800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr15:59021800-59029000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:59021800-59029600	Weak transcription	Fetal Lung	lung
21	chr15:59022000-59025200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:59022000-59029600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:59022200-59025800	Enhancers	Brain Cingulate Gyrus	brain
24	chr15:59022200-59025800	Enhancers	HSMMtube	muscle
25	chr15:59022200-59040200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr15:59022400-59024600	Enhancers	Brain Substantia Nigra	brain
27	chr15:59022400-59025600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr15:59022400-59025800	Enhancers	Brain Angular Gyrus	brain
29	chr15:59022400-59025800	Enhancers	Brain Hippocampus Middle	brain
30	chr15:59022400-59026800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr15:59022400-59029400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:59022600-59024600	Genic enhancers	Primary T cells from cord blood	blood
33	chr15:59022600-59025600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr15:59022600-59034800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr15:59022600-59038600	Weak transcription	Fetal Brain Female	brain
36	chr15:59022800-59025200	Genic enhancers	Fetal Thymus	thymus
37	chr15:59022800-59025200	Enhancers	HMEC	breast
38	chr15:59022800-59025800	Genic enhancers	Thymus	Thymus
39	chr15:59022800-59029600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:59023000-59024600	Enhancers	Psoas Muscle	Psoas
41	chr15:59023000-59026000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:59023000-59027000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:59023000-59030400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr15:59023200-59025200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:59023200-59025600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:59023400-59024600	Enhancers	Brain Anterior Caudate	brain
47	chr15:59023400-59024600	Enhancers	Right Atrium	heart
48	chr15:59023400-59024800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:59023400-59025000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:59023400-59025000	Enhancers	Primary T cells fromperipheralblood	blood

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