Variant report

Variant	rs1783152
Chromosome Location	chr8:110482900-110482901
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	chr8:110480733..110484366-chr8:110549857..110553138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10088918	0.95[CHD][hapmap]
rs10092693	0.95[CHD][hapmap]
rs10098672	0.89[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs10099126	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1026439	0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1037695	0.88[CEU][hapmap];0.92[CHD][hapmap]
rs10458302	0.92[CHD][hapmap]
rs12334438	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12679728	0.95[CHD][hapmap]
rs12681579	0.92[CHD][hapmap]
rs13252234	0.95[CHD][hapmap]
rs13253951	0.95[CHD][hapmap]
rs13254245	0.95[CHD][hapmap]
rs13266838	0.81[CHB][hapmap]
rs13278812	0.89[CEU][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1379364	0.81[CHB][hapmap]
rs1379369	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1379370	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1457284	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457286	0.89[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs1457287	0.88[CEU][hapmap];0.92[CHD][hapmap]
rs1457289	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1457290	0.92[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs1457291	0.81[EUR][1000 genomes]
rs1471124	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1471125	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563579	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1585294	0.81[CEU][hapmap]
rs1624114	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1626759	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1627570	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673390	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673392	0.96[ASN][1000 genomes]
rs1673393	0.93[CEU][hapmap];0.95[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1673394	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673396	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1673397	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1673398	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1673400	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673401	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1673404	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1673405	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1673407	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1673408	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1673429	0.81[EUR][1000 genomes]
rs1783142	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783143	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783144	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783145	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1783149	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783150	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783151	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1783163	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1783164	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1783165	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1840908	0.88[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1870107	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs1870109	0.81[EUR][1000 genomes]
rs2061294	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap]
rs2061295	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs2168679	0.88[CEU][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs2349436	0.95[CHD][hapmap]
rs2349760	0.89[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2349761	0.95[CHD][hapmap]
rs2607637	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607638	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607639	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844232	0.86[JPT][hapmap]
rs2844251	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844252	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844253	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2926228	0.81[CEU][hapmap];0.80[CHD][hapmap]
rs2980569	0.81[CEU][hapmap]
rs4604408	0.86[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs4734212	0.95[CHD][hapmap]
rs4735133	0.88[CEU][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs6469256	0.81[EUR][1000 genomes]
rs6469257	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.81[EUR][1000 genomes]
rs6469260	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs6469261	0.90[CHD][hapmap];0.81[JPT][hapmap]
rs6469262	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs6982748	0.92[CEU][hapmap];0.94[CHD][hapmap]
rs6987198	0.92[CEU][hapmap]
rs6993467	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6993552	0.95[CHD][hapmap]
rs7002606	0.96[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs7002926	0.81[JPT][hapmap]
rs7015262	0.95[CHD][hapmap]
rs7016085	0.95[CHD][hapmap]
rs7016609	0.95[CHD][hapmap]
rs714994	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs714995	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7819151	0.89[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs7840592	0.89[CEU][hapmap];0.81[JPT][hapmap]
rs897838	0.89[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs921959	0.95[CHD][hapmap]
rs921960	0.89[CEU][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap]
rs9297425	0.95[CHD][hapmap]
rs964307	0.95[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv981974	chr8:110482256-110484135	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1783152	PKHD1L1	cis	Thyroid	GTEx
rs1783152	RP11-419L20.2	cis	Thyroid	GTEx
rs1783152	PKHD1L1	cis	lymphoblastoid	seeQTL
rs1783152	PKHD1L1	cis	Nerve Tibial	GTEx
rs1783152	PKHD1L1	cis	multi-tissue	Pritchard
rs1783152	PKHD1L1	cis	Lymphoblastoid	GTEx
rs1783152	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:1 , 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

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