Variant report

Variant	rs4723288
Chromosome Location	chr7:33487086-33487087
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	chr7:33480819..33483351-chr7:33485248..33487940,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1008582	0.84[CHB][hapmap]
rs10225698	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10230133	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10247780	0.87[ASN][1000 genomes]
rs10256994	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10268074	0.80[CHD][hapmap]
rs10464226	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951383	0.80[CHD][hapmap]
rs11972278	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12155105	0.80[CHB][hapmap]
rs12537278	0.80[CHD][hapmap]
rs12665869	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12669218	0.80[ASN][1000 genomes]
rs12669595	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671213	0.80[ASN][1000 genomes]
rs13241465	0.95[CHB][hapmap];0.88[CHD][hapmap];0.80[ASN][1000 genomes]
rs1345277	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1362228	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1362229	0.80[ASN][1000 genomes]
rs1362230	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs1419898	0.84[CHB][hapmap];0.90[CHD][hapmap]
rs1419900	0.90[CHD][hapmap]
rs1419903	0.89[ASN][1000 genomes]
rs1419916	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs1419918	0.95[CHB][hapmap]
rs1419919	0.95[CHB][hapmap];0.85[CHD][hapmap]
rs1419921	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1419925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1419927	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419928	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1473155	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1592465	0.80[CHD][hapmap]
rs1894810	0.93[CHD][hapmap]
rs2024430	0.80[CHD][hapmap]
rs2041419	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2392233	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2392234	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2392235	0.84[AFR][1000 genomes]
rs3884597	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs4141012	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs4236337	0.95[CHB][hapmap];0.88[CHD][hapmap]
rs4509212	0.95[CHB][hapmap];0.83[CHD][hapmap]
rs4510745	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4582453	0.93[CHD][hapmap]
rs4637716	0.84[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4720118	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4723283	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4723285	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58961617	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59532834	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6462477	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6462479	0.94[CHB][hapmap];0.80[ASN][1000 genomes]
rs6958002	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6964756	0.84[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6976311	0.84[CHB][hapmap]
rs6977009	0.90[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs721851	0.93[CHD][hapmap]
rs723300	0.84[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs726463	0.93[CHD][hapmap]
rs758779	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs758780	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs764041	0.80[JPT][hapmap]
rs7779367	0.81[JPT][hapmap]
rs7781641	0.80[ASN][1000 genomes]
rs7798984	0.88[ASN][1000 genomes]
rs7802888	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7804731	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7805192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs975791	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9784973	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs9886232	0.86[AFR][1000 genomes]
rs9886325	1.00[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv934287	chr7:33470390-33512880	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv933237	chr7:33470390-33574046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4723288	AAA1	cis	cerebellum	SCAN
rs4723288	BBS9	cis	lymphoblastoid	seeQTL
rs4723288	BBS9	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33475400-33516000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:33481800-33489000	Enhancers	Fetal Lung	lung
3	chr7:33484200-33487600	Weak transcription	Brain Germinal Matrix	brain
4	chr7:33484600-33487600	Weak transcription	Brain Substantia Nigra	brain
5	chr7:33485000-33487600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:33485000-33487800	Weak transcription	Psoas Muscle	Psoas
7	chr7:33485600-33487600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:33486400-33487600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:33486600-33492000	Weak transcription	Osteobl	bone

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