Variant report

Variant	rs16903497
Chromosome Location	chr5:14418419-14418420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:14416699-14418527	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr5:14416960-14421278	U87	brain:	n/a	n/a
3	POLR2A	chr5:14417497-14418508	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:14417405-14419541	PANC-1	pancreas:	n/a	n/a
5	RAD21	chr5:14416529-14419280	SK-N-SH	brain:	n/a	chr5:14417572-14417585 chr5:14417454-14417461 chr5:14416928-14416938 chr5:14418224-14418233 chr5:14417574-14417586
6	POLR2A	chr5:14418046-14419094	U87	brain:	n/a	n/a
7	EP300	chr5:14415788-14419392	SK-N-SH	brain:	n/a	chr5:14418696-14418705 chr5:14416670-14416679 chr5:14417596-14417609 chr5:14417928-14417942 chr5:14416056-14416065
8	CTCF	chr5:14418300-14418450	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr5:14418280-14418430	HMF	breast:	n/a	n/a
10	POLR2A	chr5:14416966-14419596	U87	brain:	n/a	n/a
11	POLR2A	chr5:14418046-14419553	U87	brain:	n/a	n/a

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10056415	1.00[EUR][1000 genomes]
rs10078445	1.00[EUR][1000 genomes]
rs11949756	1.00[YRI][hapmap]
rs12109756	1.00[YRI][hapmap]
rs12110161	0.95[YRI][hapmap]
rs12332644	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16903421	0.88[MEX][hapmap]
rs16903453	0.87[LWK][hapmap];0.88[MEX][hapmap];1.00[YRI][hapmap]
rs16903460	1.00[YRI][hapmap]
rs16903464	1.00[YRI][hapmap]
rs56207939	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57640930	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58260094	0.81[AMR][1000 genomes]
rs59371168	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60123555	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60534900	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60871697	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345046	0.97[EUR][1000 genomes]
rs6860137	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6860252	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6883134	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887662	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs6894866	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73061636	0.81[AMR][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	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
2	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
3	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
2	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:14392400-14426800	Weak transcription	Psoas Muscle	Psoas
5	chr5:14399000-14419800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:14404000-14420600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:14404400-14428600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14404600-14427600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:14404800-14424000	Strong transcription	Liver	Liver
10	chr5:14405200-14423600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:14405400-14423400	Strong transcription	Placenta	Placenta
12	chr5:14406800-14420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:14406800-14421600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:14407200-14418800	Strong transcription	NHEK	skin
15	chr5:14407800-14419800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:14410600-14428000	Weak transcription	Fetal Heart	heart
17	chr5:14411000-14428200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:14411200-14423600	Strong transcription	Fetal Intestine Large	intestine
19	chr5:14412000-14429600	Strong transcription	Fetal Intestine Small	intestine
20	chr5:14412600-14420800	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr5:14412600-14433800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:14413400-14420000	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:14413600-14419800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:14413600-14423600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:14413600-14430200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
27	chr5:14413800-14420000	Weak transcription	Brain Substantia Nigra	brain
28	chr5:14414200-14424400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr5:14414400-14419000	Genic enhancers	NHLF	lung
30	chr5:14414800-14420200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:14414800-14421000	Genic enhancers	Fetal Stomach	stomach
32	chr5:14415000-14419800	Weak transcription	Thymus	Thymus
33	chr5:14415000-14429000	Strong transcription	Primary B cells from cord blood	blood
34	chr5:14415200-14420000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:14415200-14420400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:14415600-14423400	Strong transcription	Fetal Brain Female	brain
37	chr5:14415800-14419200	Weak transcription	Esophagus	oesophagus
38	chr5:14415800-14420200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:14415800-14422400	Genic enhancers	HSMM	muscle
40	chr5:14416000-14418600	Weak transcription	Right Ventricle	heart
41	chr5:14416000-14419200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:14416000-14419200	Weak transcription	Left Ventricle	heart
43	chr5:14416000-14430400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:14416200-14418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:14416200-14419000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:14416200-14419600	Weak transcription	Hela-S3	cervix
47	chr5:14416200-14420000	Enhancers	NHDF-Ad	bronchial
48	chr5:14416400-14419000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:14416400-14419000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:14416400-14419000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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