Variant report

Variant	rs59842359
Chromosome Location	chr6:44105929-44105930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44101577..44103606-chr6:44104926..44108402,3	MCF-7	breast:
2	chr6:44105821..44107661-chr6:44279875..44282233,2	MCF-7	breast:
3	chr6:44103703..44105996-chr6:44106065..44109436,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124608	Chromatin interaction
ENSG00000137216	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2096199	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4610558	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56168551	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57139546	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57576544	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60105057	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60207481	0.93[ASN][1000 genomes]
rs66629131	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6935537	0.81[EUR][1000 genomes]
rs73429745	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7742030	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7742824	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7752653	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755223	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7773700	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59842359	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44096400-44106600	Weak transcription	Aorta	Aorta
2	chr6:44096600-44107200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:44096600-44107400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:44096600-44119400	Weak transcription	Right Atrium	heart
5	chr6:44096800-44106800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:44096800-44107400	Weak transcription	GM12878-XiMat	blood
7	chr6:44096800-44119400	Weak transcription	HUVEC	blood vessel
8	chr6:44098000-44107200	Weak transcription	Dnd41	blood
9	chr6:44098000-44114800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:44098000-44119400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:44098000-44119400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:44100200-44107400	Weak transcription	Psoas Muscle	Psoas
13	chr6:44100400-44119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:44101200-44119400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:44101400-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:44101600-44106400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:44101600-44106600	Weak transcription	Brain Substantia Nigra	brain
18	chr6:44101600-44107400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:44101600-44107400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:44101600-44107600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:44101600-44108600	Weak transcription	NH-A	brain
22	chr6:44101600-44113600	Weak transcription	Hela-S3	cervix
23	chr6:44101600-44118400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:44101800-44107400	Weak transcription	A549	lung
25	chr6:44101800-44112400	Strong transcription	Fetal Brain Female	brain
26	chr6:44101800-44112600	Strong transcription	Brain Germinal Matrix	brain
27	chr6:44101800-44119200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:44101800-44124000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:44102000-44106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:44102000-44107200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:44102000-44107600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr6:44102000-44109600	Strong transcription	HepG2	liver
33	chr6:44102000-44113400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:44102000-44115200	Weak transcription	Small Intestine	intestine
35	chr6:44102000-44117600	Weak transcription	Fetal Heart	heart
36	chr6:44102000-44118600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:44102000-44119400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:44102200-44106000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:44102200-44109200	Strong transcription	Thymus	Thymus
40	chr6:44102200-44109600	Strong transcription	Adipose Nuclei	Adipose
41	chr6:44102200-44112200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:44102200-44112200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:44102200-44112400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:44102200-44112400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:44102200-44112400	Strong transcription	NHEK	skin
46	chr6:44102200-44117800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:44102200-44118000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:44102200-44118400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:44102200-44119800	Strong transcription	Fetal Intestine Small	intestine
50	chr6:44102400-44106600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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