Variant report

Variant	rs11983651
Chromosome Location	chr7:117784427-117784428
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117782847..117784841-chr7:117824081..117825939,2	K562	blood:

Variant related genes	Relation type
ENSG00000128534	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10247768	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs10487392	0.86[EUR][1000 genomes]
rs11487110	0.88[CEU][hapmap]
rs11542074	0.91[EUR][1000 genomes]
rs11974039	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12154684	0.84[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1544583	0.85[EUR][1000 genomes]
rs1544584	0.91[EUR][1000 genomes]
rs17140984	0.96[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs17141053	0.96[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2058418	0.85[CEU][hapmap]
rs2215628	0.96[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs2286863	0.91[EUR][1000 genomes]
rs2286865	0.96[CEU][hapmap];0.91[GIH][hapmap];0.89[TSI][hapmap]
rs2402300	0.89[ASN][1000 genomes]
rs33924981	0.91[EUR][1000 genomes]
rs34010516	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34019303	0.91[EUR][1000 genomes]
rs35218902	0.90[EUR][1000 genomes]
rs35485182	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41903	0.83[EUR][1000 genomes]
rs41904	0.82[EUR][1000 genomes]
rs41930	0.82[EUR][1000 genomes]
rs41931	0.80[EUR][1000 genomes]
rs45604739	0.91[EUR][1000 genomes]
rs4730837	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs62466471	0.89[EUR][1000 genomes]
rs62466515	0.91[EUR][1000 genomes]
rs62468297	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62469806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6466643	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6942513	0.81[CEU][hapmap]
rs6972105	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769435	0.81[CEU][hapmap]
rs7786233	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9641593	0.91[EUR][1000 genomes]
rs992035	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2752146	chr7:117739049-117792049	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1016264	chr7:117739146-117792988	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761358	chr7:117739158-117793000	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv608260	chr7:117739400-117792838	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1028064	chr7:117740164-117792988	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv33380	chr7:117768471-117793477	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11983651	KCND2	cis	parietal	SCAN
rs11983651	ANKRD7	cis	parietal	SCAN
rs11983651	LSM8	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117779600-117792200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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