Variant report

Variant	rs4514619
Chromosome Location	chr15:57438086-57438087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57428236..57433536-chr15:57434011..57440588,9	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10518910	1.00[CEU][hapmap]
rs1122890	1.00[CEU][hapmap]
rs11854006	0.88[EUR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12438324	1.00[CEU][hapmap]
rs12438428	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12438464	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12438782	1.00[CEU][hapmap]
rs12438893	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes]
rs12439149	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes]
rs12439266	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12439374	1.00[CEU][hapmap]
rs12439547	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes]
rs12440036	1.00[AFR][1000 genomes]
rs12440116	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440699	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12440790	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12440878	1.00[CEU][hapmap]
rs12441185	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12441200	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12441239	1.00[AFR][1000 genomes]
rs12441263	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12442326	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12442879	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12443076	1.00[CEU][hapmap]
rs12443085	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1462157	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16977170	1.00[CEU][hapmap]
rs16977201	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17239068	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17239187	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239313	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17239522	1.00[CEU][hapmap]
rs17819694	1.00[AFR][1000 genomes]
rs17819755	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819779	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819809	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs17819994	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17820006	0.84[EUR][1000 genomes]
rs17820119	1.00[CEU][hapmap]
rs1816322	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2126398	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2414499	1.00[CEU][hapmap]
rs4320591	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8031866	1.00[CEU][hapmap];0.96[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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57387600-57442400	Weak transcription	Fetal Intestine Large	intestine
2	chr15:57410600-57440800	Weak transcription	Ovary	ovary
3	chr15:57415000-57438800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr15:57415600-57438800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr15:57416000-57438800	Weak transcription	Primary B cells from cord blood	blood
6	chr15:57419600-57439000	Weak transcription	Fetal Intestine Small	intestine
7	chr15:57425800-57438800	Weak transcription	HSMM	muscle
8	chr15:57425800-57440800	Weak transcription	Thymus	Thymus
9	chr15:57425800-57442200	Weak transcription	Right Ventricle	heart
10	chr15:57426800-57438400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:57427200-57440000	Weak transcription	Fetal Stomach	stomach
12	chr15:57427400-57439000	Weak transcription	A549	lung
13	chr15:57427400-57442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:57427600-57440600	Weak transcription	Dnd41	blood
15	chr15:57428400-57438800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:57428400-57442200	Weak transcription	Primary T cells from cord blood	blood
17	chr15:57428600-57438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:57428600-57438800	Weak transcription	Liver	Liver
19	chr15:57428600-57438800	Weak transcription	NHDF-Ad	bronchial
20	chr15:57428600-57438800	Weak transcription	NHLF	lung
21	chr15:57428600-57444000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:57428800-57438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:57429200-57438800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:57430600-57438800	Weak transcription	NH-A	brain
25	chr15:57431000-57438600	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:57431000-57438600	Weak transcription	HUVEC	blood vessel
27	chr15:57431000-57438800	Weak transcription	Adipose Nuclei	Adipose
28	chr15:57431600-57438800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:57433000-57444000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:57433600-57438800	Weak transcription	Fetal Heart	heart
31	chr15:57434400-57438800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:57435400-57438800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr15:57435400-57438800	Enhancers	Brain Cingulate Gyrus	brain
34	chr15:57436000-57442200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:57436200-57438200	Strong transcription	Fetal Thymus	thymus
36	chr15:57436600-57438800	Weak transcription	Brain Anterior Caudate	brain
37	chr15:57436600-57438800	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:57436600-57438800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:57436600-57438800	Weak transcription	Osteobl	bone
40	chr15:57436600-57440600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:57436800-57438800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:57436800-57438800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:57436800-57438800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:57436800-57438800	Weak transcription	Fetal Lung	lung
45	chr15:57437000-57438400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:57437000-57438800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:57437000-57438800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:57437000-57441000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:57437200-57438600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:57437200-57439000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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