Variant report

Variant	rs7218345
Chromosome Location	chr17:46502917-46502918
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	chr17:46500936..46503842-chr17:46534803..46536418,2	K562	blood:
2	chr17:46498978..46503056-chr17:46506628..46509777,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs11079818	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11655672	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12449653	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12450014	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12450081	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12450786	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12450935	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12451412	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12452212	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12452234	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12453208	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12937965	0.89[EUR][1000 genomes]
rs12938640	0.92[EUR][1000 genomes]
rs12940365	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12941926	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12944592	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12945780	0.96[ASN][1000 genomes]
rs12946636	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12948017	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12953245	0.90[EUR][1000 genomes]
rs1396870	0.96[ASN][1000 genomes]
rs1533057	0.90[ASN][1000 genomes]
rs1553749	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1553751	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1553752	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1553753	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16955397	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1912153	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1912154	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2056458	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2084881	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2175158	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34771639	0.90[ASN][1000 genomes]
rs34791545	0.96[ASN][1000 genomes]
rs35387091	0.90[ASN][1000 genomes]
rs35680046	0.90[ASN][1000 genomes]
rs35767434	0.90[ASN][1000 genomes]
rs36057069	0.81[ASN][1000 genomes]
rs4131712	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4261589	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312351	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4451990	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4556829	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4793846	0.90[ASN][1000 genomes]
rs5000249	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682156	0.96[ASN][1000 genomes]
rs56385452	0.81[ASN][1000 genomes]
rs56655886	0.89[ASN][1000 genomes]
rs62064554	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6504158	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6504172	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6504203	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6504257	0.89[ASN][1000 genomes]
rs66529852	0.90[ASN][1000 genomes]
rs7207826	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207928	0.91[EUR][1000 genomes]
rs7209043	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209522	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7209855	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7210445	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7210708	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7211712	0.96[ASN][1000 genomes]
rs7212149	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7212930	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7213513	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7214269	0.93[ASN][1000 genomes]
rs7214589	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7216971	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7217025	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7217120	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7218217	0.96[ASN][1000 genomes]
rs7219816	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7219985	0.89[EUR][1000 genomes]
rs7220387	0.96[ASN][1000 genomes]
rs7221770	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7222452	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7225998	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs8065385	0.87[EUR][1000 genomes]
rs8067857	0.81[ASN][1000 genomes]
rs8067953	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8068128	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8068397	0.87[EUR][1000 genomes]
rs8068623	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8072770	0.90[ASN][1000 genomes]
rs8073466	0.96[ASN][1000 genomes]
rs8073888	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8074054	0.81[ASN][1000 genomes]
rs8074212	0.90[EUR][1000 genomes]
rs8074443	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8078038	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8082009	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9303542	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9747133	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9890142	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9890488	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9891073	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9891635	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894812	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9895123	0.83[EUR][1000 genomes]
rs9895985	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9897162	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9897588	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9898988	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9899213	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9900511	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9901279	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9905220	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9905961	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9906193	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9906651	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9907699	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9909002	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9909872	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9910535	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9916227	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]

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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7218345	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs7218345	SKAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46486800-46503000	Weak transcription	Thymus	Thymus
2	chr17:46487800-46503600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:46489800-46505000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr17:46492000-46503000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:46494600-46503600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr17:46498400-46503200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr17:46498600-46503600	Enhancers	Primary T cells from cord blood	blood
8	chr17:46499800-46503600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr17:46500600-46503600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:46500800-46503000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr17:46501600-46503600	Weak transcription	A549	lung
12	chr17:46502200-46503400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:46502200-46503800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:46502200-46505200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr17:46502200-46505200	Enhancers	Fetal Thymus	thymus
16	chr17:46502400-46503400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:46502600-46503000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:46502600-46503400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr17:46502600-46503600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:46502800-46503600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr17:46502800-46505000	Flanking Active TSS	GM12878-XiMat	blood

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