Variant report

Variant	rs42099
Chromosome Location	chr7:27715482-27715483
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27714729..27716414-chr7:27718592..27720447,2	K562	blood:
2	chr7:27701170..27703848-chr7:27715195..27717641,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1009252	1.00[JPT][hapmap]
rs1009253	0.81[CEU][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap]
rs1014373	1.00[JPT][hapmap]
rs1015750	1.00[JPT][hapmap]
rs1030003	1.00[JPT][hapmap]
rs10447552	1.00[JPT][hapmap]
rs1052724	1.00[JPT][hapmap]
rs1052741	1.00[JPT][hapmap]
rs10951172	1.00[JPT][hapmap]
rs10951175	1.00[JPT][hapmap]
rs10951176	1.00[JPT][hapmap]
rs10951177	0.88[ASN][1000 genomes]
rs11526176	1.00[JPT][hapmap]
rs12113070	0.88[ASN][1000 genomes]
rs12155430	1.00[JPT][hapmap]
rs12164139	1.00[JPT][hapmap]
rs12530626	1.00[JPT][hapmap]
rs12534474	0.94[GIH][hapmap];0.88[ASN][1000 genomes]
rs12535844	1.00[JPT][hapmap]
rs12537499	1.00[JPT][hapmap]
rs12540276	1.00[JPT][hapmap]
rs12665991	1.00[JPT][hapmap]
rs12667235	1.00[JPT][hapmap]
rs12667610	1.00[JPT][hapmap]
rs12668430	1.00[JPT][hapmap]
rs12700813	1.00[JPT][hapmap]
rs12700815	1.00[JPT][hapmap]
rs12700817	1.00[JPT][hapmap]
rs12700826	1.00[JPT][hapmap]
rs13222355	0.88[ASN][1000 genomes]
rs13227873	1.00[JPT][hapmap]
rs13234293	0.88[ASN][1000 genomes]
rs13237776	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13242248	1.00[JPT][hapmap]
rs13244903	1.00[JPT][hapmap]
rs13246464	1.00[JPT][hapmap]
rs1357760	1.00[JPT][hapmap]
rs1404276	1.00[JPT][hapmap]
rs1404278	1.00[JPT][hapmap]
rs1524530	1.00[JPT][hapmap]
rs1524531	1.00[JPT][hapmap]
rs1524533	1.00[JPT][hapmap]
rs1608664	1.00[JPT][hapmap]
rs17155546	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1851913	1.00[JPT][hapmap]
rs1880370	1.00[JPT][hapmap]
rs1980329	1.00[JPT][hapmap]
rs2041714	1.00[JPT][hapmap]
rs2080245	1.00[JPT][hapmap]
rs2098315	1.00[JPT][hapmap]
rs2110526	1.00[JPT][hapmap]
rs2110528	1.00[JPT][hapmap]
rs2391452	1.00[JPT][hapmap]
rs2391453	1.00[JPT][hapmap]
rs34347197	0.88[ASN][1000 genomes]
rs35070852	0.88[ASN][1000 genomes]
rs35847205	0.88[ASN][1000 genomes]
rs3925338	1.00[JPT][hapmap]
rs4140899	1.00[JPT][hapmap]
rs42085	1.00[JPT][hapmap]
rs4348389	1.00[JPT][hapmap]
rs4719902	1.00[JPT][hapmap]
rs4722719	1.00[JPT][hapmap]
rs4722724	1.00[JPT][hapmap]
rs4722728	1.00[JPT][hapmap]
rs6415251	1.00[JPT][hapmap]
rs6462029	1.00[JPT][hapmap]
rs6462031	1.00[JPT][hapmap]
rs6462034	1.00[JPT][hapmap]
rs6462037	1.00[JPT][hapmap]
rs6462038	1.00[JPT][hapmap]
rs6945993	1.00[JPT][hapmap]
rs6946075	1.00[JPT][hapmap]
rs6947731	1.00[JPT][hapmap]
rs6948814	1.00[JPT][hapmap]
rs6955074	1.00[JPT][hapmap]
rs6958747	1.00[JPT][hapmap]
rs6959495	1.00[JPT][hapmap]
rs6960834	1.00[JPT][hapmap]
rs6961429	1.00[JPT][hapmap]
rs6963421	1.00[JPT][hapmap]
rs6964190	1.00[JPT][hapmap]
rs6970104	1.00[JPT][hapmap]
rs6971512	0.88[ASN][1000 genomes]
rs6974387	1.00[JPT][hapmap]
rs6974932	1.00[JPT][hapmap]
rs6980382	1.00[JPT][hapmap]
rs71539536	0.88[ASN][1000 genomes]
rs71539538	0.88[ASN][1000 genomes]
rs71539539	0.88[ASN][1000 genomes]
rs71539540	0.88[ASN][1000 genomes]
rs723699	1.00[JPT][hapmap]
rs723700	1.00[JPT][hapmap]
rs7455882	1.00[JPT][hapmap]
rs7778320	1.00[JPT][hapmap]
rs7783447	1.00[JPT][hapmap]
rs7789788	1.00[JPT][hapmap]
rs7794292	1.00[JPT][hapmap]
rs7806812	1.00[JPT][hapmap]
rs9639552	1.00[JPT][hapmap]
rs9639553	1.00[JPT][hapmap]
rs978447	1.00[JPT][hapmap]
rs986706	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs42099	HIBADH	cis	parietal	SCAN
rs42099	TAX1BP1	cis	cerebellum	SCAN
rs42099	AQP1	cis	cerebellum	SCAN
rs42099	ZNRF2	cis	cerebellum	SCAN
rs42099	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs42099	HIBADH	cis	cerebellum	SCAN
rs42099	HIBADH	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27711400-27716200	Weak transcription	NHDF-Ad	bronchial
2	chr7:27711400-27717000	Weak transcription	K562	blood

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