Variant report

Variant	rs8081754
Chromosome Location	chr17:46328667-46328668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46326674..46329434-chr17:46702733..46704459,2	K562	blood:
2	chr17:46317007..46319839-chr17:46328201..46331501,3	K562	blood:
3	chr17:46328637..46331168-chr17:46337351..46339869,2	K562	blood:
4	chr17:46328583..46331168-chr17:46336391..46339869,3	K562	blood:
5	chr17:46326654..46330395-chr17:46331839..46334091,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170689	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs11079818	0.82[ASN][1000 genomes]
rs11655672	0.82[ASN][1000 genomes]
rs12150117	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12449653	0.92[CHB][hapmap];1.00[CHD][hapmap];0.81[JPT][hapmap]
rs12450014	0.84[ASN][1000 genomes]
rs12450081	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12450935	0.82[ASN][1000 genomes]
rs12451412	0.82[ASN][1000 genomes]
rs12452212	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs12452234	0.84[ASN][1000 genomes]
rs12453208	0.84[ASN][1000 genomes]
rs12937965	0.86[ASN][1000 genomes]
rs12938032	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12939680	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12940162	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12940365	0.92[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs12940931	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12941754	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12941877	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12943082	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12944592	0.92[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12945780	0.84[EUR][1000 genomes]
rs12946636	0.92[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap]
rs12948017	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12948086	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12948128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12950325	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12952824	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1396870	0.81[CEU][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs1533057	0.85[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes]
rs1553749	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1553751	0.82[ASN][1000 genomes]
rs1553752	0.84[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs1553753	0.92[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs16954750	0.81[YRI][hapmap]
rs16955397	0.84[ASN][1000 genomes]
rs17621199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17621297	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17621707	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17623154	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17623482	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17694192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17694895	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17696503	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17696640	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1912153	0.82[ASN][1000 genomes]
rs1912154	0.85[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2056458	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2084881	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2175158	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs34466582	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34771639	0.83[EUR][1000 genomes]
rs35003027	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35387091	0.83[EUR][1000 genomes]
rs35509644	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35533148	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35680046	0.83[EUR][1000 genomes]
rs35759756	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35767434	0.83[EUR][1000 genomes]
rs4128439	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4131712	0.84[ASN][1000 genomes]
rs4312351	0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4451990	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs4556829	0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4793846	0.83[EUR][1000 genomes]
rs5000249	0.81[JPT][hapmap]
rs55682156	0.84[EUR][1000 genomes]
rs56146024	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56655886	0.82[EUR][1000 genomes]
rs62067799	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6504135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6504145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504158	0.92[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6504172	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6504203	0.82[ASN][1000 genomes]
rs6504257	0.83[EUR][1000 genomes]
rs66529852	0.84[EUR][1000 genomes]
rs7206951	0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7207826	0.81[JPT][hapmap]
rs7207928	0.82[ASN][1000 genomes]
rs7209522	0.82[ASN][1000 genomes]
rs7209556	0.83[JPT][hapmap]
rs7209855	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7210445	0.84[ASN][1000 genomes]
rs7210708	0.92[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7211607	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7211712	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7212149	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs7212930	0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7213513	0.92[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7214269	0.84[EUR][1000 genomes]
rs7214589	0.84[ASN][1000 genomes]
rs7215143	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7216971	0.92[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7217025	0.92[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7217120	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs7218217	0.84[EUR][1000 genomes]
rs7218848	1.00[ASW][hapmap];0.85[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7219816	0.92[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7219985	0.85[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7220387	0.84[EUR][1000 genomes]
rs7221770	0.92[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7222452	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7222593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7224686	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7225998	0.80[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs8065115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8065385	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs8067953	0.82[ASN][1000 genomes]
rs8068128	0.92[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs8068397	0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs8069900	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8072521	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8072770	0.83[EUR][1000 genomes]
rs8073466	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8073710	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs8073888	0.82[ASN][1000 genomes]
rs8074443	0.92[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs8076655	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8078038	0.82[ASN][1000 genomes]
rs8078999	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8082009	0.86[ASN][1000 genomes]
rs9303542	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs9747133	0.84[ASN][1000 genomes]
rs9890488	0.84[ASN][1000 genomes]
rs9891073	0.92[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9894812	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs9895123	0.88[ASN][1000 genomes]
rs9895985	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs9897162	0.92[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9899213	0.86[ASN][1000 genomes]
rs9901279	0.86[ASN][1000 genomes]
rs9905220	0.88[ASN][1000 genomes]
rs9905961	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs9906193	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs9906651	0.82[ASN][1000 genomes]
rs9907699	0.92[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9909002	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9909872	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs9910535	0.92[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs9916227	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8081754	HOXB6	cis	cerebellum	SCAN
rs8081754	PNPO	cis	cerebellum	SCAN
rs8081754	PNPO	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46306600-46335400	Weak transcription	Thymus	Thymus
2	chr17:46319600-46372000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:46322600-46329400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:46322600-46341800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:46322600-46342200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:46322800-46356200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:46323000-46370800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:46323800-46330600	Weak transcription	GM12878-XiMat	blood
9	chr17:46324200-46355800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:46324200-46371600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:46324800-46337000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:46324800-46343000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr17:46326000-46329400	Weak transcription	K562	blood
14	chr17:46326200-46330200	Weak transcription	Primary T cells from cord blood	blood
15	chr17:46326200-46335600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:46326200-46361200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr17:46326400-46329600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr17:46326600-46329600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:46327000-46330400	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:46328000-46329800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr17:46328200-46329000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr17:46328200-46329200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr17:46328200-46329800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr17:46328200-46330000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr17:46328200-46330600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr17:46328400-46328800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr17:46328400-46328800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:46328400-46328800	Bivalent/Poised TSS	Fetal Lung	lung
29	chr17:46328400-46328800	Flanking Active TSS	HUVEC	blood vessel
30	chr17:46328400-46332400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:46328400-46332800	Enhancers	A549	lung
32	chr17:46328600-46328800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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