Variant report

Variant	rs7943981
Chromosome Location	chr11:63551859-63551860
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	chr1:121484247..121485026-chr11:63551556..63552380,2	MCF-7	breast:
2	chr11:63550785..63552741-chr11:63579503..63582374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10501394	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231535	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231543	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231545	1.00[CEU][hapmap]
rs11551942	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11551944	0.91[CEU][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820129	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186941	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211688	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274980	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158453	1.00[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656941	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789219	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509744	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959876	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959880	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959881	0.84[EUR][1000 genomes]
rs2959886	0.92[EUR][1000 genomes]
rs3016865	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3017733	0.83[EUR][1000 genomes]
rs34109368	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35345497	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754698	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474548	0.85[MEX][hapmap]
rs476034	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476691	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482915	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484619	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491231	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500726	0.93[EUR][1000 genomes]
rs500991	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511819	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515645	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517700	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518490	1.00[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518692	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521464	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523093	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523809	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534505	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534876	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539306	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541809	0.92[EUR][1000 genomes]
rs542998	0.85[MEX][hapmap]
rs550629	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551466	1.00[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557882	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559405	0.94[EUR][1000 genomes]
rs560938	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562549	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566255	0.85[MEX][hapmap]
rs566813	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567756	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568769	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568790	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580695	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588523	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928162	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928163	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928165	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928166	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928167	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928168	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928195	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928196	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928197	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928202	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928203	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928204	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928205	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928206	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928208	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928209	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928211	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928212	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928214	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928234	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928236	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928237	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928238	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928239	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928241	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928243	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928244	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928245	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61928246	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928247	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928248	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929731	0.83[EUR][1000 genomes]
rs6591821	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6591822	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106670	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111395	1.00[CEU][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117206	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119961	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127454	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128040	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128970	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928900	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931908	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932117	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939940	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944003	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944094	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945972	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949389	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949447	0.89[EUR][1000 genomes];1.00[ASN][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7943981	FLRT1	cis	cerebellum	SCAN
rs7943981	SLC22A9	cis	cerebellum	SCAN
rs7943981	SNORD25	cis	parietal	SCAN
rs7943981	RASGRP2	cis	parietal	SCAN
rs7943981	PLA2G16	cis	cerebellum	SCAN
rs7943981	MTA2	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63550200-63552200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:63551200-63552000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:63551400-63552000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:63551400-63552000	Enhancers	Placenta	Placenta
5	chr11:63551600-63552000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr11:63551600-63552000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:63551600-63552000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:63551600-63552000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:63551600-63552000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:63551600-63552000	Enhancers	A549	lung
11	chr11:63551600-63552200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:63551600-63552200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:63551600-63552200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:63551600-63552200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:63551600-63552200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:63551600-63552200	Flanking Active TSS	HepG2	liver
17	chr11:63551800-63552200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:63551800-63552200	Enhancers	Fetal Stomach	stomach

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