Variant report

Variant	rs4779032
Chromosome Location	chr15:83245326-83245327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83238387..83241317-chr15:83241503..83245353,3	K562	blood:
2	chr15:83233938..83235753-chr15:83244078..83245839,2	K562	blood:

Variant related genes	Relation type
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10152286	0.93[YRI][hapmap]
rs10163167	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10400906	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10468217	0.98[ASN][1000 genomes]
rs10906984	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1145172	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1145173	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11631963	0.95[CHB][hapmap];0.80[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs11633829	0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11635460	0.85[GIH][hapmap]
rs11635624	0.95[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs11637433	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs11855735	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12148332	0.96[ASN][1000 genomes]
rs12324877	0.86[YRI][hapmap]
rs12438312	0.88[ASN][1000 genomes]
rs12438371	0.82[LWK][hapmap];0.93[YRI][hapmap]
rs12441776	0.93[YRI][hapmap]
rs12442686	0.86[ASN][1000 genomes]
rs1259180	1.00[ASN][1000 genomes]
rs1259182	0.92[ASN][1000 genomes]
rs1259183	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1267657	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1267658	0.93[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1267659	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1269134	0.90[ASN][1000 genomes]
rs12911134	0.84[ASN][1000 genomes]
rs12916980	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1313492	0.95[ASN][1000 genomes]
rs1313493	0.95[ASN][1000 genomes]
rs1367841	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1594511	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs17158390	0.92[ASN][1000 genomes]
rs1864699	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs1877242	0.85[GIH][hapmap]
rs2099259	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2278355	0.91[CHB][hapmap];0.91[CHD][hapmap];0.88[ASN][1000 genomes]
rs2567635	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2567636	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2678445	0.94[ASN][1000 genomes]
rs2678448	0.96[ASN][1000 genomes]
rs28374463	0.88[ASN][1000 genomes]
rs28415133	0.95[ASN][1000 genomes]
rs28667458	0.84[ASN][1000 genomes]
rs2870965	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2870966	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs28808991	0.97[ASN][1000 genomes]
rs34186444	0.92[ASN][1000 genomes]
rs35934048	0.96[ASN][1000 genomes]
rs36109438	0.95[ASN][1000 genomes]
rs3970696	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4778686	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4779039	0.95[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4779041	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4779044	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4779050	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4779053	0.84[ASN][1000 genomes]
rs55924160	0.92[ASN][1000 genomes]
rs57181760	0.90[ASN][1000 genomes]
rs59746564	0.85[AFR][1000 genomes]
rs6603033	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs698500	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7165125	0.90[ASN][1000 genomes]
rs7166248	0.84[ASN][1000 genomes]
rs7167880	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7171180	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7178350	0.88[ASN][1000 genomes]
rs7181761	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7182320	0.85[GIH][hapmap]
rs7182403	0.91[ASN][1000 genomes]
rs7183881	0.91[ASN][1000 genomes]
rs7494860	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7496954	0.91[ASN][1000 genomes]
rs783520	0.90[ASN][1000 genomes]
rs783521	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs783522	0.92[ASN][1000 genomes]
rs783523	1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs783525	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs783526	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs783527	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs783529	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs783530	0.96[ASN][1000 genomes]
rs783531	0.99[ASN][1000 genomes]
rs783532	0.98[ASN][1000 genomes]
rs783533	0.97[ASN][1000 genomes]
rs783534	0.97[ASN][1000 genomes]
rs783535	0.94[ASN][1000 genomes]
rs783536	0.97[ASN][1000 genomes]
rs783537	0.94[ASN][1000 genomes]
rs783539	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs783540	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs783543	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs783545	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8023333	0.95[LWK][hapmap];0.88[MKK][hapmap];0.87[AFR][1000 genomes]
rs803687	0.93[ASN][1000 genomes]
rs803688	0.94[ASN][1000 genomes]
rs803747	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs8040293	0.88[ASN][1000 genomes]
rs8043401	1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs9652567	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
6	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
7	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4779032	FAM154B	cis	lymphoblastoid	seeQTL
rs4779032	CPEB1	cis	parietal	SCAN
rs4779032	RP11-152F13.8	cis	Esophagus Mucosa	GTEx
rs4779032	RASGRF1	cis	cerebellum	SCAN
rs4779032	LOC283726	cis	multi-tissue	Pritchard
rs4779032	LOC402057	trans	multi-tissue	Pritchard
rs4779032	LOC653344	cis	multi-tissue	Pritchard
rs4779032	FAM154B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83241400-83248400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:83241800-83297600	Weak transcription	Brain Inferior Temporal Lobe	brain

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