Variant report

Variant	rs60105057
Chromosome Location	chr6:44080719-44080720
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44067830..44068507-chr6:44080322..44081249,2	K562	blood:
2	chr6:44057946..44059954-chr6:44079572..44082311,3	K562	blood:
3	chr6:44075851..44077772-chr6:44079320..44082195,2	K562	blood:
4	chr6:44076515..44082841-chr6:44082960..44087705,9	MCF-7	breast:
5	chr6:44079762..44081284-chr6:44204790..44206941,2	K562	blood:
6	chr6:44079550..44081115-chr6:44225400..44228307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146232	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2096199	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4610558	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55934950	0.83[ASN][1000 genomes]
rs56168551	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57139546	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57576544	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59842359	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60207481	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66629131	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935537	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73429745	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7742030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7742824	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7752653	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7755223	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7773700	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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
rs60105057	MRPL14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44066000-44081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:44066400-44082200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:44067000-44084200	Strong transcription	Brain Germinal Matrix	brain
6	chr6:44067000-44084400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:44067200-44085000	Strong transcription	Dnd41	blood
8	chr6:44070000-44083200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:44070400-44084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:44070600-44084000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:44070800-44084200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:44071000-44081600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:44071000-44084600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:44071200-44083400	Strong transcription	Fetal Thymus	thymus
15	chr6:44071200-44084200	Strong transcription	Fetal Brain Female	brain
16	chr6:44071200-44084600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:44071200-44084600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr6:44071200-44086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:44071400-44082200	Strong transcription	Primary B cells from cord blood	blood
20	chr6:44071400-44083800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:44071400-44083800	Strong transcription	Primary T cells from cord blood	blood
22	chr6:44071400-44084400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:44071400-44084400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr6:44071600-44081800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:44071600-44083200	Strong transcription	K562	blood
26	chr6:44071600-44084000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:44071600-44084200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:44071600-44084400	Strong transcription	GM12878-XiMat	blood
29	chr6:44071800-44083600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:44071800-44084000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr6:44071800-44084400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:44072400-44081400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:44073000-44081000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr6:44073200-44084400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:44073800-44082400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:44073800-44083800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:44073800-44084000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:44074000-44086600	Strong transcription	Fetal Stomach	stomach
39	chr6:44074400-44083200	Strong transcription	Osteobl	bone
40	chr6:44074400-44083600	Strong transcription	NHLF	lung
41	chr6:44074600-44083200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr6:44074600-44084200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr6:44074600-44084200	Strong transcription	Hela-S3	cervix
44	chr6:44074800-44083400	Strong transcription	Adipose Nuclei	Adipose
45	chr6:44074800-44083400	Strong transcription	Thymus	Thymus
46	chr6:44074800-44084200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr6:44075000-44081800	Strong transcription	NHEK	skin
48	chr6:44075000-44083600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:44075000-44083800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr6:44075200-44081400	Strong transcription	Placenta	Placenta

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