Variant report

Variant	rs803686
Chromosome Location	chr15:83219340-83219341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83217765..83219665-chr15:83228669..83230495,2	K562	blood:
2	chr15:83215297..83217273-chr15:83218215..83220655,3	MCF-7	breast:
3	chr15:83217974..83220864-chr15:83234820..83237093,3	MCF-7	breast:
4	chr15:83217723..83220183-chr15:83220219..83222791,2	K562	blood:
5	chr15:83214650..83216345-chr15:83216963..83219533,2	K562	blood:
6	chr15:83216973..83219783-chr15:83347665..83350486,2	K562	blood:
7	chr15:83217263..83220611-chr15:83348215..83350818,3	MCF-7	breast:
8	chr15:83218421..83221235-chr15:83235743..83238150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10400906	0.81[GIH][hapmap]
rs1145170	0.89[CHB][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.84[ASN][1000 genomes]
rs1145172	0.81[GIH][hapmap]
rs1145173	0.81[GIH][hapmap]
rs11631963	0.81[GIH][hapmap]
rs11637433	0.81[GIH][hapmap]
rs1259176	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1259177	0.83[ASN][1000 genomes]
rs1267657	0.81[GIH][hapmap]
rs1267659	0.81[GIH][hapmap]
rs12908713	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs1313494	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1553885	0.84[GIH][hapmap];0.80[MEX][hapmap]
rs17356528	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1864699	0.81[GIH][hapmap]
rs2278355	0.81[GIH][hapmap]
rs2567632	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2567635	0.81[GIH][hapmap]
rs2870966	0.81[GIH][hapmap]
rs4778686	0.81[GIH][hapmap]
rs4779046	0.89[CHB][hapmap];0.84[GIH][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap]
rs6422424	0.84[AFR][1000 genomes]
rs6603033	0.81[GIH][hapmap]
rs698500	0.81[GIH][hapmap]
rs7163840	0.85[ASW][hapmap];0.87[CEU][hapmap];0.84[GIH][hapmap];0.93[MEX][hapmap]
rs7167880	0.81[GIH][hapmap]
rs7178459	0.84[CEU][hapmap]
rs7494860	0.81[GIH][hapmap]
rs783523	0.81[GIH][hapmap]
rs783524	1.00[CHB][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs783528	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs783538	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs783540	0.81[GIH][hapmap]
rs783541	0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427965	chr15:82741381-83310525	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv428309	chr15:82741381-83310525	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2758391	chr15:82879646-83310525	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	esv2760046	chr15:82879646-83310525	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv428645	chr15:83069951-83227151	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv10828	chr15:83096440-83219640	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv833071	chr15:83123646-83310510	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs803686	RP13-996F3.5	cis	Esophagus Mucosa	GTEx
rs803686	RP11-152F13.7	cis	lung	GTEx
rs803686	YES1	trans	lymphoblastoid	RTeQTL
rs803686	LOC402057///RPS17	trans	lymphoblastoid	RTeQTL
rs803686	RP11-152F13.3	cis	Esophagus Mucosa	GTEx
rs803686	RP11-152F13.7	cis	Esophagus Mucosa	GTEx
rs803686	HDGFRP3	cis	lymphoblastoid	seeQTL
rs803686	BTBD1	cis	cerebellum	SCAN
rs803686	FAM154B	cis	parietal	SCAN
rs803686	RP11-152F13.8	cis	Esophagus Mucosa	GTEx
rs803686	FLJ40113///LOC161527///LOC440295///LOC642346	N/A	lymphoblastoid	RTeQTL
rs803686	RPS17P2	cis	Liver	GTEx
rs803686	RPS17	Cis_1M	lymphoblastoid	RTeQTL
rs803686	RPS17P5	cis	Liver	GTEx
rs803686	RP11-152F13.7	cis	Skin Sun Exposed Lower leg	GTEx
rs803686	CPEB1	cis	parietal	SCAN
rs803686	RASGRF1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83213200-83220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:83214000-83224800	Strong transcription	Stomach Smooth Muscle	stomach
3	chr15:83214200-83222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:83214600-83226800	Weak transcription	Gastric	stomach
5	chr15:83215600-83221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:83216000-83220600	Weak transcription	HSMMtube	muscle
7	chr15:83216200-83222400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:83216600-83221000	Weak transcription	Ovary	ovary
9	chr15:83216800-83222400	Weak transcription	NHDF-Ad	bronchial
10	chr15:83216800-83222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:83216800-83235000	Weak transcription	NHLF	lung
12	chr15:83217000-83219400	Strong transcription	Brain Angular Gyrus	brain
13	chr15:83217000-83221600	Strong transcription	Brain Anterior Caudate	brain
14	chr15:83217000-83221600	Strong transcription	Brain Substantia Nigra	brain
15	chr15:83217000-83221800	Strong transcription	Brain Hippocampus Middle	brain
16	chr15:83217000-83221800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:83217000-83222000	Strong transcription	Brain Cingulate Gyrus	brain
18	chr15:83217000-83222000	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr15:83217200-83219400	Genic enhancers	K562	blood
20	chr15:83217200-83219600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:83217200-83222000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:83217400-83219600	Strong transcription	Fetal Stomach	stomach
23	chr15:83217400-83219800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:83217600-83220400	Enhancers	GM12878-XiMat	blood
25	chr15:83218200-83224800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:83218400-83222200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:83218600-83219400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:83218600-83219400	Strong transcription	Osteobl	bone
29	chr15:83218600-83222000	Weak transcription	Aorta	Aorta
30	chr15:83218600-83224800	Weak transcription	Fetal Lung	lung
31	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:83219200-83220200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:83219200-83221400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:83219200-83221400	Enhancers	NHEK	skin
35	chr15:83219200-83222000	Enhancers	HMEC	breast

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