Variant report

Variant	rs1783165
Chromosome Location	chr8:110463858-110463859
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	chr8:110462866..110463874-chr8:110563606..110564958,17	MCF-7	breast:
2	chr8:110462733..110464086-chr8:110563917..110564843,7	MCF-7	breast:
3	chr8:110455492..110457261-chr8:110462455..110464215,2	K562	blood:
4	chr8:110455738..110458666-chr8:110463282..110464812,2	MCF-7	breast:
5	chr8:110462735..110466624-chr8:110551263..110555152,4	MCF-7	breast:
6	chr8:110462548..110464182-chr8:110467144..110470132,2	MCF-7	breast:
7	chr8:110462238..110464562-chr8:110469589..110471882,2	K562	blood:
8	chr8:110461291..110465454-chr8:110550197..110554392,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147654	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10088918	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10092565	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10092693	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10097258	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10098672	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs10099126	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs10101522	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10111682	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1026439	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1037695	0.81[ASN][1000 genomes]
rs10458302	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10955518	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12334438	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs12544835	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs12546429	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12550601	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12679728	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12680439	0.94[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12681579	0.82[CHB][hapmap]
rs13252234	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13253951	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs13254245	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13254461	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13258279	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13262995	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13264576	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13264587	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13266285	0.82[ASN][1000 genomes]
rs13266293	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13266374	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs13266838	0.94[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13267428	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13268429	0.82[ASN][1000 genomes]
rs13278812	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs1379363	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1379364	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1379365	0.93[CEU][hapmap];0.84[CHB][hapmap];0.81[YRI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1379369	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1379370	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1457284	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1457286	0.82[CHB][hapmap]
rs1457287	0.80[ASN][1000 genomes]
rs1457289	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs1457290	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1457291	0.82[ASN][1000 genomes]
rs1457292	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1457293	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1458920	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs1471124	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1471125	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1563579	0.87[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1563580	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1624114	0.91[ASN][1000 genomes]
rs1626759	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1627570	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1673390	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1673392	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1673393	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1673394	0.86[ASN][1000 genomes]
rs1673396	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673397	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1673398	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1673400	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673401	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1673403	0.88[ASN][1000 genomes]
rs1673404	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1673405	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs1673407	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1673408	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs16879470	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1783142	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1783143	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1783144	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783145	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1783149	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs1783150	0.90[ASN][1000 genomes]
rs1783151	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1783152	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1783163	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1783164	0.98[ASN][1000 genomes]
rs1824193	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1840908	0.81[CHB][hapmap]
rs1870107	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs1870108	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1870109	0.80[ASN][1000 genomes]
rs2022935	0.93[YRI][hapmap]
rs2061294	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs2061295	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs2124982	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2168679	0.87[CHB][hapmap]
rs2349436	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2349760	0.82[CHB][hapmap]
rs2349761	0.82[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2607637	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2607638	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2607639	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2844232	0.81[JPT][hapmap]
rs2844251	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844252	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2844253	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2844260	0.93[YRI][hapmap]
rs4348463	0.82[ASN][1000 genomes]
rs4529437	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4604408	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs4734212	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4735133	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs4735134	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6469257	0.81[ASN][1000 genomes]
rs6469260	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs6469262	0.80[CHB][hapmap];0.83[ASN][1000 genomes]
rs6982748	0.80[ASN][1000 genomes]
rs6993467	0.82[CHB][hapmap]
rs6993552	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6999505	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7002606	0.87[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs7002926	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs7011803	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs7014589	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7015262	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7016085	0.82[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs7016609	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs714994	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs714995	0.88[ASN][1000 genomes]
rs7818553	0.83[ASN][1000 genomes]
rs7819141	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7819151	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs7840592	0.87[CHB][hapmap]
rs897838	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs897839	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs921958	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap]
rs921959	0.82[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs921960	0.87[CHB][hapmap]
rs9297425	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9642806	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs964307	0.82[ASW][hapmap];0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9656793	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9656882	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs965930	0.89[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891273	chr8:110219735-110475874	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv891280	chr8:110346363-110465481	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	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
4	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
rs1783165	EBAG9	cis	brain	BrainEAC
rs1783165	PKHD1L1	cis	Lymphoblastoid	GTEx
rs1783165	PKHD1L1	cis	multi-tissue	Pritchard
rs1783165	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs1783165	PKHD1L1	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110463000-110464000	Enhancers	HepG2	liver
2	chr8:110463200-110492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:110463800-110464000	Enhancers	Pancreatic Islets	Pancreatic Islet

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