Variant report

Variant	rs17158253
Chromosome Location	chr15:83508399-83508400
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83476532..83478667-chr15:83507129..83509153,3	K562	blood:
2	chr15:83477910..83479814-chr15:83506678..83508717,2	MCF-7	breast:
3	chr10:2342431..2343097-chr15:83507613..83508488,2	HCT-116	colon:
4	chr15:83417933..83421305-chr15:83506438..83509474,3	MCF-7	breast:
5	chr15:83502060..83506247-chr15:83506644..83510779,4	K562	blood:
6	chr15:83502060..83506130-chr15:83507202..83510779,6	K562	blood:

Variant related genes	Relation type
ENSG00000156232	Chromatin interaction
ENSG00000250988	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1108135	0.81[EUR][1000 genomes]
rs11259954	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12592976	0.83[EUR][1000 genomes]
rs17158257	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17158267	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17841165	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28698473	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55994896	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56108482	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57612574	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs58229275	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs60686632	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66978683	0.83[EUR][1000 genomes]
rs73443061	0.81[EUR][1000 genomes]
rs899747	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83500400-83517600	Weak transcription	Fetal Heart	heart
2	chr15:83502400-83508600	Strong transcription	Muscle Satellite Cultured Cells	--
3	chr15:83502600-83509200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:83503200-83508600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:83503400-83510400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:83503600-83514400	Weak transcription	K562	blood
7	chr15:83503600-83518200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:83503600-83518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:83503600-83518600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:83503800-83512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:83504400-83510200	Weak transcription	HepG2	liver
12	chr15:83504600-83549400	Weak transcription	Psoas Muscle	Psoas
13	chr15:83505000-83513600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:83505000-83518200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:83505400-83508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:83505600-83512000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:83505800-83520800	Weak transcription	Dnd41	blood
18	chr15:83505800-83522400	Weak transcription	Fetal Kidney	kidney
19	chr15:83506000-83508600	Weak transcription	Colonic Mucosa	Colon
20	chr15:83506000-83509400	Weak transcription	HUVEC	blood vessel
21	chr15:83506000-83514600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:83506000-83518400	Weak transcription	NH-A	brain
23	chr15:83506000-83524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:83506200-83512400	Weak transcription	GM12878-XiMat	blood
25	chr15:83506200-83512600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:83506200-83512800	Weak transcription	NHEK	skin
27	chr15:83506200-83513600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:83506200-83513800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr15:83506200-83518400	Weak transcription	NHDF-Ad	bronchial
30	chr15:83506200-83518800	Weak transcription	Brain Angular Gyrus	brain
31	chr15:83506200-83527400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:83506200-83543800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:83506400-83508600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr15:83506400-83511400	Weak transcription	HMEC	breast
35	chr15:83506400-83518200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:83506400-83518600	Weak transcription	Ovary	ovary
37	chr15:83506400-83518800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:83506600-83508600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:83506600-83512600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:83506600-83512600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:83506600-83513600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:83506600-83518200	Weak transcription	Right Ventricle	heart
43	chr15:83506800-83509600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr15:83506800-83509600	Weak transcription	Fetal Intestine Large	intestine
45	chr15:83506800-83513400	Weak transcription	Fetal Thymus	thymus
46	chr15:83506800-83518200	Weak transcription	A549	lung
47	chr15:83507000-83512000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:83507000-83513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:83507000-83514600	Weak transcription	Placenta	Placenta
50	chr15:83507000-83515200	Weak transcription	Brain Inferior Temporal Lobe	brain

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