Variant report

Variant	rs11762056
Chromosome Location	chr7:27613690-27613691
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	chr7:27612920..27615670-chr7:27622966..27625852,2	K562	blood:
2	chr7:27274898..27276767-chr7:27611528..27615003,3	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1014372	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10249314	1.00[CEU][hapmap]
rs1029604	0.80[CEU][hapmap]
rs11761718	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11761773	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11764419	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11764624	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11765792	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11767719	0.80[EUR][1000 genomes]
rs11768533	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11771265	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11772163	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11773626	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17607155	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17607303	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17680908	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17682155	0.83[CEU][hapmap]
rs17683094	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2158892	0.88[CEU][hapmap]
rs41326151	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs42090	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs42093	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs42096	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs42097	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs42114	0.81[EUR][1000 genomes]
rs4722736	0.80[CEU][hapmap]
rs57863648	0.88[EUR][1000 genomes]
rs59505903	0.85[EUR][1000 genomes]
rs60247061	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60326970	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60939746	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61072451	0.81[AFR][1000 genomes]
rs61659103	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62454846	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454847	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454852	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62454853	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62454854	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62454909	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62454911	0.88[EUR][1000 genomes]
rs62454912	0.88[EUR][1000 genomes]
rs62454913	0.88[EUR][1000 genomes]
rs62456899	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62456903	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62456949	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62456952	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62456953	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68015840	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6945079	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6946582	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6970160	0.86[CEU][hapmap]
rs6978979	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075112	0.89[EUR][1000 genomes]
rs73079438	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7456595	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7790914	0.80[CEU][hapmap]
rs7795207	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7803464	0.94[AMR][1000 genomes];0.94[EUR][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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11762056	HIBADH	cis	parietal	SCAN
rs11762056	HIBADH	cis	cerebellum	SCAN
rs11762056	ZNRF2	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27559400-27627800	Weak transcription	Psoas Muscle	Psoas
2	chr7:27580600-27615000	Weak transcription	Aorta	Aorta
3	chr7:27581400-27617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
5	chr7:27582800-27615000	Weak transcription	Placenta	Placenta
6	chr7:27582800-27615200	Weak transcription	Ovary	ovary
7	chr7:27600600-27645600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:27603000-27626400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:27603200-27615400	Weak transcription	Adipose Nuclei	Adipose
10	chr7:27603200-27631800	Weak transcription	Primary T cells from cord blood	blood
11	chr7:27603600-27626400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:27605000-27614800	Weak transcription	Fetal Kidney	kidney
13	chr7:27605200-27615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:27605200-27617200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:27605200-27624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:27605600-27615200	Weak transcription	Liver	Liver
17	chr7:27605800-27645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:27606800-27614800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:27607200-27614800	Weak transcription	Fetal Lung	lung
20	chr7:27609000-27614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:27609400-27614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:27609400-27632600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:27610000-27619000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:27610200-27617800	Weak transcription	Primary B cells from cord blood	blood

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