Variant report

Variant	rs17819886
Chromosome Location	chr15:57387408-57387409
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	chr15:57382063..57385012-chr15:57386808..57389098,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11854006	0.92[EUR][1000 genomes]
rs12437713	0.82[EUR][1000 genomes]
rs12437753	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438428	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes]
rs12439149	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12439266	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12439547	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12440036	1.00[AFR][1000 genomes]
rs12440116	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12440245	1.00[AFR][1000 genomes]
rs12440699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12440790	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12440891	1.00[AFR][1000 genomes]
rs12441185	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12441200	0.88[EUR][1000 genomes]
rs12441239	1.00[AFR][1000 genomes]
rs12441263	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes]
rs12442839	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12442879	1.00[AFR][1000 genomes]
rs12443085	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12443125	1.00[AFR][1000 genomes]
rs1462157	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes]
rs16977201	0.92[EUR][1000 genomes]
rs17238950	1.00[AFR][1000 genomes]
rs17238971	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239313	0.80[EUR][1000 genomes]
rs17819646	1.00[AFR][1000 genomes]
rs17819658	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17819664	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs17819994	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17820006	0.80[EUR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2126398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4514619	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8031866	0.92[EUR][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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:57353800-57406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:57356000-57393400	Weak transcription	Thymus	Thymus
4	chr15:57372600-57404000	Weak transcription	HSMMtube	muscle
5	chr15:57372600-57404200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:57372800-57410200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:57374400-57389400	Weak transcription	NHEK	skin
8	chr15:57374600-57390000	Weak transcription	HMEC	breast
9	chr15:57374600-57398600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:57374800-57387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:57374800-57397800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:57374800-57409600	Weak transcription	Osteobl	bone
13	chr15:57374800-57414600	Weak transcription	Fetal Kidney	kidney
14	chr15:57375000-57393400	Weak transcription	Fetal Intestine Small	intestine
15	chr15:57375000-57398000	Weak transcription	NH-A	brain
16	chr15:57375000-57398400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr15:57376200-57406000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:57376800-57397000	Weak transcription	Fetal Stomach	stomach
19	chr15:57379400-57390600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:57380200-57401000	Strong transcription	Fetal Thymus	thymus
21	chr15:57380400-57392400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:57381000-57412400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:57381200-57404400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:57381200-57409400	Weak transcription	NHLF	lung
25	chr15:57381800-57403200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:57382400-57389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:57382400-57397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:57382600-57403400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:57382600-57403800	Weak transcription	Left Ventricle	heart
30	chr15:57382600-57423800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:57382800-57392200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:57382800-57404400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:57382800-57404400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:57382800-57419600	Weak transcription	K562	blood
35	chr15:57383000-57397800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:57383000-57404000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:57383200-57403200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:57383800-57387600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:57383800-57398200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:57384000-57387600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:57384000-57387600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:57384000-57387600	Strong transcription	Dnd41	blood
43	chr15:57384000-57388000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:57384200-57387600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr15:57384200-57409200	Weak transcription	Brain Germinal Matrix	brain
46	chr15:57384400-57387800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:57384600-57387600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr15:57384600-57401400	Weak transcription	Brain Angular Gyrus	brain
49	chr15:57384600-57404400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:57384600-57405600	Weak transcription	Brain Anterior Caudate	brain

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