Variant report

Variant	rs16903389
Chromosome Location	chr5:14316448-14316449
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	chr5:14266100..14268810-chr5:14315325..14317635,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11133785	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11949756	0.82[CEU][hapmap]
rs11950000	0.82[CEU][hapmap]
rs12109756	0.82[CEU][hapmap]
rs12110161	0.82[CEU][hapmap]
rs16903375	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903421	0.82[CEU][hapmap];0.92[GIH][hapmap]
rs16903453	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs16903460	0.82[CEU][hapmap]
rs16903464	0.82[CEU][hapmap]
rs1697168	0.95[EUR][1000 genomes]
rs1697170	0.93[EUR][1000 genomes]
rs2463803	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs58383010	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60768136	0.87[EUR][1000 genomes]
rs62344973	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344976	0.87[EUR][1000 genomes]
rs62346588	0.95[EUR][1000 genomes]
rs62346590	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6879505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887831	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs697558	0.95[EUR][1000 genomes]
rs697559	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7710935	0.87[EUR][1000 genomes]
rs7731443	0.87[EUR][1000 genomes]
rs7732548	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773764	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs773765	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs773766	1.00[CEU][hapmap];0.95[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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
7	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
8	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
9	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:14305600-14316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:14305600-14316600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:14305600-14317600	Strong transcription	HUVEC	blood vessel
20	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:14307600-14316600	Weak transcription	Brain Angular Gyrus	brain
22	chr5:14307600-14316800	Weak transcription	Primary T cells from cord blood	blood
23	chr5:14307600-14321400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:14307600-14321400	Strong transcription	NH-A	brain
25	chr5:14309200-14321200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:14309600-14326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:14310200-14322200	Weak transcription	Fetal Brain Male	brain
28	chr5:14310400-14318800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
30	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:14311200-14316600	Weak transcription	Gastric	stomach
32	chr5:14312000-14316600	Weak transcription	Brain Anterior Caudate	brain
33	chr5:14312000-14316600	Weak transcription	Brain Germinal Matrix	brain
34	chr5:14312000-14316600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:14312200-14316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:14312400-14316600	Weak transcription	Fetal Brain Female	brain
37	chr5:14312400-14316600	Weak transcription	Fetal Thymus	thymus
38	chr5:14313600-14316600	Weak transcription	Pancreas	Pancrea
39	chr5:14313600-14325000	Weak transcription	Fetal Heart	heart
40	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:14314000-14326800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:14314200-14316600	Weak transcription	Fetal Stomach	stomach
43	chr5:14314200-14316600	Weak transcription	Lung	lung
44	chr5:14314200-14317200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:14314200-14323600	Strong transcription	HSMMtube	muscle
46	chr5:14314200-14325600	Weak transcription	Psoas Muscle	Psoas
47	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
48	chr5:14314600-14326800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr5:14314600-14338200	Strong transcription	HSMM	muscle
50	chr5:14314800-14326600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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