Variant report

Variant	rs1457282
Chromosome Location	chr8:110486766-110486767
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:110483442..110487678-chr8:110550408..110553451,5	MCF-7	breast:
2	chr8:110485934..110489021-chr8:110489156..110492335,3	MCF-7	breast:
3	chr8:110476428..110479434-chr8:110485234..110488569,3	MCF-7	breast:
4	chr8:110486659..110490072-chr8:110550556..110553701,4	MCF-7	breast:
5	chr8:110486322..110490229-chr8:110490493..110494144,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction
ENSG00000205038	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10088258	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10088612	0.89[ASN][1000 genomes]
rs10088684	0.89[ASN][1000 genomes]
rs1009371	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10108943	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111682	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1013482	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1026437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1044230	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10505133	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs13249244	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13439318	0.89[ASN][1000 genomes]
rs13439864	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.89[ASN][1000 genomes]
rs1379361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1379366	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1379367	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1457283	0.92[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1457294	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs1457295	0.90[CHB][hapmap];0.83[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs1563578	0.95[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.91[ASN][1000 genomes]
rs1563580	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1617259	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs1617350	0.89[ASN][1000 genomes]
rs1626759	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1630134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1630942	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673383	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.89[ASN][1000 genomes]
rs1673384	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs1673386	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673389	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs1673395	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs1673399	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs1673409	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs1673410	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs1673411	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673412	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1673413	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs1673415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673420	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1673421	0.96[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1673422	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1673424	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673425	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673427	0.91[ASN][1000 genomes]
rs1673428	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs17377636	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17449762	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1783140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783141	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1783147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783153	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783155	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1783157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783159	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783160	0.82[EUR][1000 genomes]
rs1783161	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783162	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783166	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783167	0.91[ASN][1000 genomes]
rs1783168	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783169	0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783170	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783171	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs1783172	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs1783173	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783174	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs1783175	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1892759	0.89[JPT][hapmap]
rs1892760	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2022934	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2022935	0.91[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2154658	0.89[JPT][hapmap]
rs2154660	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs2236627	0.89[JPT][hapmap]
rs2236628	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2607624	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs2607625	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs2607627	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607630	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607632	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607635	0.81[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2607636	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703377	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2703382	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2703384	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs2703386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2703388	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs2703389	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2844231	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2844234	0.82[CHB][hapmap]
rs2844235	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2844236	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2844254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844255	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844256	0.92[ASN][1000 genomes]
rs2844257	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs2844258	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs2844259	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[ASN][1000 genomes]
rs2844260	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844261	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs3808380	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4529437	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6995356	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7006166	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7011340	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.89[ASN][1000 genomes]
rs7011803	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs720139	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720140	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs730885	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs753995	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7818726	0.82[ASN][1000 genomes]
rs7821242	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs897840	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs897842	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.91[ASN][1000 genomes]
rs930877	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018510	chr8:110403496-110504029	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1457282	PKHD1L1	cis	Thyroid	GTEx
rs1457282	RP11-419L20.2	cis	Thyroid	GTEx
rs1457282	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs1457282	PKHD1L1	cis	Lymphoblastoid	GTEx
rs1457282	PKHD1L1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110463200-110492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:110486200-110486800	Enhancers	Stomach Mucosa	stomach

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