Variant report

Variant	rs8030113
Chromosome Location	chr15:51821579-51821580
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	chr15:51820517..51823414-chr15:51826309..51828768,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10467923	0.80[ASN][1000 genomes]
rs11070850	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11070852	0.92[ASN][1000 genomes]
rs11855041	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12592390	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592422	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12908028	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17704742	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1869930	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2258064	0.81[EUR][1000 genomes]
rs2414104	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2414108	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2607111	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2607113	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28362471	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34604744	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4359386	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4436729	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462536	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4775945	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4775950	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775967	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6493498	0.87[ASN][1000 genomes]
rs6493502	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493504	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7164999	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7176988	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8024233	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8025536	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8030534	0.87[ASN][1000 genomes]
rs8034340	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs930919	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv904217	chr15:51695653-51881980	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv904218	chr15:51743186-51873407	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv569405	chr15:51791559-51890282	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8030113	DMXL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51763600-51826800	Weak transcription	Colonic Mucosa	Colon
2	chr15:51776800-51837600	Weak transcription	Fetal Thymus	thymus
3	chr15:51776800-51855200	Weak transcription	Thymus	Thymus
4	chr15:51778400-51825800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:51780400-51855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:51780800-51839000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:51781400-51863000	Weak transcription	HSMM	muscle
8	chr15:51781600-51837000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:51785000-51827400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:51787400-51855400	Weak transcription	Osteobl	bone
11	chr15:51792200-51824000	Weak transcription	Fetal Kidney	kidney
12	chr15:51792200-51824000	Weak transcription	Left Ventricle	heart
13	chr15:51792400-51828600	Weak transcription	K562	blood
14	chr15:51792400-51838400	Weak transcription	HSMMtube	muscle
15	chr15:51793000-51824000	Weak transcription	Dnd41	blood
16	chr15:51794600-51861000	Weak transcription	Gastric	stomach
17	chr15:51804000-51823200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:51805400-51824000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:51807400-51823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:51809000-51854800	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:51813600-51823800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:51816000-51828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:51816000-51861000	Weak transcription	Pancreas	Pancrea
24	chr15:51817000-51837800	Weak transcription	Brain Substantia Nigra	brain
25	chr15:51817200-51836400	Weak transcription	Aorta	Aorta
26	chr15:51817800-51862200	Weak transcription	Fetal Brain Male	brain
27	chr15:51818000-51823400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr15:51818000-51824000	Weak transcription	Brain Anterior Caudate	brain
29	chr15:51818000-51825000	Weak transcription	Liver	Liver
30	chr15:51818200-51823000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:51818200-51823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:51818200-51823400	Weak transcription	Adipose Nuclei	Adipose
33	chr15:51818200-51824000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:51818200-51824000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr15:51818200-51826000	Weak transcription	Placenta	Placenta
36	chr15:51818200-51847600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:51818200-51855400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:51818200-51861600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:51818400-51853400	Weak transcription	Lung	lung
40	chr15:51818400-51861200	Weak transcription	Fetal Stomach	stomach
41	chr15:51818800-51840200	Weak transcription	Hela-S3	cervix
42	chr15:51819200-51823600	Weak transcription	Fetal Lung	lung
43	chr15:51819200-51831400	Weak transcription	Fetal Heart	heart
44	chr15:51819200-51838200	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:51819400-51823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:51819400-51823400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:51819400-51823400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr15:51819400-51823600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:51819400-51828400	Weak transcription	Brain Angular Gyrus	brain
50	chr15:51819400-51828400	Weak transcription	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links