Variant report

Variant	rs7793862
Chromosome Location	chr7:33304218-33304219
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	chr7:33288330..33291319-chr7:33303929..33306157,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10224956	1.00[JPT][hapmap]
rs10227739	1.00[JPT][hapmap]
rs10232564	1.00[JPT][hapmap]
rs10240165	0.90[JPT][hapmap]
rs10240664	1.00[JPT][hapmap]
rs10241188	1.00[JPT][hapmap]
rs10269937	1.00[JPT][hapmap]
rs10270961	1.00[JPT][hapmap]
rs10272253	1.00[JPT][hapmap]
rs10278228	0.90[JPT][hapmap]
rs10486525	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs10951376	1.00[JPT][hapmap]
rs10951377	1.00[JPT][hapmap]
rs10951380	1.00[JPT][hapmap]
rs10951381	1.00[JPT][hapmap]
rs1117311	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760829	1.00[JPT][hapmap]
rs11763306	1.00[JPT][hapmap]
rs11766506	1.00[JPT][hapmap]
rs11766521	1.00[JPT][hapmap]
rs11769811	1.00[JPT][hapmap]
rs12666753	1.00[JPT][hapmap]
rs12671396	1.00[JPT][hapmap]
rs12673026	0.90[JPT][hapmap]
rs12701289	1.00[JPT][hapmap]
rs13224392	0.90[JPT][hapmap]
rs13227275	1.00[JPT][hapmap]
rs13235723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236414	1.00[JPT][hapmap]
rs13236865	1.00[JPT][hapmap]
rs13240884	1.00[JPT][hapmap]
rs13244450	1.00[JPT][hapmap]
rs13438256	0.81[CEU][hapmap]
rs1362367	1.00[JPT][hapmap]
rs1362370	0.84[YRI][hapmap]
rs1406606	1.00[JPT][hapmap]
rs1468797	1.00[JPT][hapmap]
rs1548879	1.00[JPT][hapmap]
rs1569239	1.00[JPT][hapmap]
rs17150810	1.00[JPT][hapmap]
rs17169835	1.00[JPT][hapmap]
rs17169847	1.00[JPT][hapmap]
rs17169855	1.00[JPT][hapmap]
rs17169881	1.00[JPT][hapmap]
rs17169913	1.00[JPT][hapmap]
rs17170138	0.83[AFR][1000 genomes]
rs17170140	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs17170142	1.00[JPT][hapmap]
rs17170143	0.83[AFR][1000 genomes]
rs17170145	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170155	0.83[AFR][1000 genomes]
rs17170174	1.00[JPT][hapmap]
rs17170175	1.00[JPT][hapmap]
rs1861298	1.00[JPT][hapmap]
rs2160253	1.00[JPT][hapmap]
rs34950347	0.83[AFR][1000 genomes]
rs4628178	0.83[YRI][hapmap]
rs4720103	1.00[JPT][hapmap]
rs4720104	1.00[JPT][hapmap]
rs4720105	1.00[JPT][hapmap]
rs4720106	1.00[JPT][hapmap]
rs4720107	1.00[JPT][hapmap]
rs4723255	1.00[JPT][hapmap]
rs4723256	1.00[JPT][hapmap]
rs4723257	1.00[JPT][hapmap]
rs4723258	1.00[JPT][hapmap]
rs4723259	1.00[JPT][hapmap]
rs4723260	1.00[JPT][hapmap]
rs55865959	0.81[AFR][1000 genomes]
rs60268357	0.83[AFR][1000 genomes]
rs6944559	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs6952244	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs6952877	1.00[JPT][hapmap]
rs6953348	1.00[JPT][hapmap]
rs6969284	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6973114	0.89[YRI][hapmap]
rs6973552	0.94[YRI][hapmap];0.83[AFR][1000 genomes]
rs73307398	0.83[AFR][1000 genomes]
rs73307399	0.83[AFR][1000 genomes]
rs73307400	0.83[AFR][1000 genomes]
rs73309308	0.83[AFR][1000 genomes]
rs73309310	0.83[AFR][1000 genomes]
rs73309312	0.83[AFR][1000 genomes]
rs73309316	0.83[AFR][1000 genomes]
rs73309318	0.83[AFR][1000 genomes]
rs73309324	0.81[AFR][1000 genomes]
rs73688093	0.83[AFR][1000 genomes]
rs764127	1.00[JPT][hapmap]
rs7777101	1.00[JPT][hapmap]
rs7783612	1.00[JPT][hapmap]
rs7793667	0.81[AFR][1000 genomes]
rs7798118	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs7804742	1.00[JPT][hapmap]
rs7808472	0.81[AFR][1000 genomes]
rs7809235	0.88[YRI][hapmap]
rs7810388	1.00[JPT][hapmap]
rs9638888	1.00[JPT][hapmap]
rs9638889	1.00[JPT][hapmap]
rs986554	1.00[JPT][hapmap]
rs987501	1.00[JPT][hapmap]
rs9886317	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv524473	chr7:33302648-33304218	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1792546	chr7:33304218-33346932	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv887925	chr7:33304218-33361323	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7793862	BBS9	cis	parietal	SCAN
rs7793862	HERPUD2	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33283800-33316000	Weak transcription	Ovary	ovary
2	chr7:33288800-33317600	Weak transcription	Gastric	stomach
3	chr7:33289400-33309000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:33289600-33310800	Weak transcription	Psoas Muscle	Psoas
5	chr7:33290000-33316200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:33290800-33309000	Weak transcription	Fetal Stomach	stomach
7	chr7:33290800-33316400	Weak transcription	Aorta	Aorta
8	chr7:33291200-33316000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:33291600-33305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:33291800-33307600	Weak transcription	Left Ventricle	heart
11	chr7:33297400-33310800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:33300400-33309800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:33302200-33317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:33302600-33308800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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