Variant report

Variant	rs11872382
Chromosome Location	chr18:8163394-8163395
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	chr18:8163213..8164758-chr18:8166282..8168101,2	K562	blood:
2	chr18:8163031..8165343-chr18:8170530..8172120,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11081360	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11660158	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11663160	0.84[EUR][1000 genomes]
rs16952967	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17398368	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17476745	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526853	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs689319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv458020	chr18:8161470-8183260	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv576427	chr18:8161470-8183260	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11872382	NAPG	cis	parietal	SCAN
rs11872382	KLK4	trans	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8152000-8167200	Weak transcription	Gastric	stomach
2	chr18:8157600-8167000	Weak transcription	Brain Anterior Caudate	brain
3	chr18:8158000-8165400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr18:8159000-8166200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:8159000-8166200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:8159000-8167000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:8159000-8167000	Weak transcription	Aorta	Aorta
8	chr18:8159000-8167200	Weak transcription	Fetal Lung	lung
9	chr18:8159000-8169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:8159000-8170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:8159000-8176600	Weak transcription	Pancreas	Pancrea
12	chr18:8159000-8177400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:8159200-8168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:8160400-8163600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:8160600-8167600	Weak transcription	Psoas Muscle	Psoas
16	chr18:8161000-8167200	Weak transcription	Ovary	ovary
17	chr18:8161600-8176600	Weak transcription	Spleen	Spleen
18	chr18:8162400-8163400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr18:8162400-8163400	Enhancers	Adipose Nuclei	Adipose
20	chr18:8162400-8163600	Enhancers	Left Ventricle	heart
21	chr18:8162600-8166000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:8162800-8163800	Enhancers	Colon Smooth Muscle	Colon
23	chr18:8163000-8177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:8163200-8163600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:8163200-8165000	Weak transcription	Right Ventricle	heart
26	chr18:8163200-8165400	Weak transcription	A549	lung
27	chr18:8163200-8167800	Weak transcription	Right Atrium	heart
28	chr18:8163200-8177800	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links