Variant report

Variant	rs1145170
Chromosome Location	chr15:83225922-83225923
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	chr15:83225687..83228641-chr15:83313130..83314679,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1259176	0.88[CHB][hapmap];0.83[EUR][1000 genomes]
rs1259177	0.81[EUR][1000 genomes]
rs12908713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1313494	0.88[CHB][hapmap]
rs1553885	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap]
rs2567632	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs2890313	1.00[LWK][hapmap]
rs34940771	0.88[ASN][1000 genomes]
rs4779046	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap]
rs4779051	0.95[CEU][hapmap]
rs7163840	0.87[CEU][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap]
rs7165129	0.82[EUR][1000 genomes]
rs7178459	0.83[CEU][hapmap]
rs783524	0.94[CHB][hapmap]
rs783528	0.89[CHB][hapmap]
rs783538	0.89[CHB][hapmap]
rs783541	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs803686	0.89[CHB][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs1145170	BTBD1	cis	cerebellum	SCAN
rs1145170	RPS17	Cis_1M	lymphoblastoid	RTeQTL
rs1145170	YES1	trans	lymphoblastoid	RTeQTL
rs1145170	RP13-996F3.5	cis	Esophagus Mucosa	GTEx
rs1145170	LOC653344	cis	multi-tissue	Pritchard
rs1145170	LOC402057///RPS17	trans	lymphoblastoid	RTeQTL
rs1145170	FLJ22795///LOC727751	N/A	lymphoblastoid	RTeQTL
rs1145170	RP11-152F13.7	cis	lung	GTEx
rs1145170	LOC402057	trans	multi-tissue	Pritchard
rs1145170	RP11-152F13.8	cis	Esophagus Mucosa	GTEx
rs1145170	RASGRF1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83214600-83226800	Weak transcription	Gastric	stomach
2	chr15:83216800-83235000	Weak transcription	NHLF	lung
3	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:83219800-83239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:83222000-83235200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:83222000-83239200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr15:83222200-83227200	Weak transcription	K562	blood
8	chr15:83222200-83237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:83222600-83239400	Weak transcription	Fetal Stomach	stomach
10	chr15:83222600-83239600	Weak transcription	Ovary	ovary
11	chr15:83222600-83239600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:83222800-83240600	Weak transcription	Aorta	Aorta
13	chr15:83223400-83230200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:83223800-83227000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:83223800-83227400	Weak transcription	HSMMtube	muscle
16	chr15:83223800-83233800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:83223800-83239600	Weak transcription	Brain Substantia Nigra	brain
18	chr15:83224200-83226600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:83224600-83226000	Strong transcription	Brain Cingulate Gyrus	brain
20	chr15:83224800-83226200	Weak transcription	Brain Angular Gyrus	brain
21	chr15:83224800-83232600	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:83224800-83233400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:83224800-83233800	Weak transcription	Brain Anterior Caudate	brain
24	chr15:83224800-83235400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:83224800-83239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:83225200-83226000	Weak transcription	Brain Inferior Temporal Lobe	brain

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