Variant report

Variant	rs60123555
Chromosome Location	chr5:14416830-14416831
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	MTA3	chr5:14416632-14417831	GM12878	blood:	n/a	n/a
3	EP300	chr5:14416709-14416998	SK-N-SH_RA	brain:	n/a	n/a
4	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
5	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
6	PML	chr5:14416753-14417682	GM12878	blood:	n/a	n/a
7	EP300	chr5:14416766-14416988	SK-N-SH_RA	brain:	n/a	n/a
8	ELF1	chr5:14416783-14417391	GM12878	blood:	n/a	n/a
9	TCF12	chr5:14416516-14418304	SK-N-SH	brain:	n/a	n/a
10	FOXM1	chr5:14416820-14417964	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14415491..14418221-chr5:14419100..14420943,2	MCF-7	breast:
2	chr5:14398702..14400835-chr5:14415419..14417364,2	K562	blood:

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

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

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

rs_ID	r²[population]
rs10056415	1.00[EUR][1000 genomes]
rs10078445	1.00[EUR][1000 genomes]
rs12332644	1.00[EUR][1000 genomes]
rs16903497	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56207939	1.00[EUR][1000 genomes]
rs57640930	0.82[AMR][1000 genomes]
rs59371168	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60534900	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60871697	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345046	0.97[EUR][1000 genomes]
rs6860137	0.92[EUR][1000 genomes]
rs6860252	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6883134	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887662	0.98[EUR][1000 genomes]
rs6894866	0.84[AMR][1000 genomes];0.97[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	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:119 , 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	chr5:14404800-14417200	Strong transcription	HSMMtube	muscle
10	chr5:14404800-14424000	Strong transcription	Liver	Liver
11	chr5:14405200-14423600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:14405400-14423400	Strong transcription	Placenta	Placenta
13	chr5:14406800-14420000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:14406800-14421600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:14407000-14417000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:14407200-14418800	Strong transcription	NHEK	skin
17	chr5:14407600-14417000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:14407800-14418000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:14407800-14419800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:14410600-14428000	Weak transcription	Fetal Heart	heart
21	chr5:14411000-14428200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:14411200-14423600	Strong transcription	Fetal Intestine Large	intestine
23	chr5:14412000-14429600	Strong transcription	Fetal Intestine Small	intestine
24	chr5:14412400-14418200	Strong transcription	HUVEC	blood vessel
25	chr5:14412600-14417200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:14412600-14417600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:14412600-14420800	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr5:14412600-14433800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:14412800-14417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:14413200-14417800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:14413400-14417400	Weak transcription	Fetal Kidney	kidney
32	chr5:14413400-14420000	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:14413600-14417000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:14413600-14417000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:14413600-14417000	Weak transcription	Colonic Mucosa	Colon
36	chr5:14413600-14417400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:14413600-14419800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:14413600-14423600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:14413600-14430200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
41	chr5:14413800-14420000	Weak transcription	Brain Substantia Nigra	brain
42	chr5:14414200-14417000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:14414200-14424400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr5:14414400-14419000	Genic enhancers	NHLF	lung
45	chr5:14414600-14417800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:14414600-14418000	Weak transcription	Aorta	Aorta
47	chr5:14414800-14420200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:14414800-14421000	Genic enhancers	Fetal Stomach	stomach
49	chr5:14415000-14418000	Weak transcription	Fetal Thymus	thymus
50	chr5:14415000-14418400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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