Variant report

Variant	rs2041528
Chromosome Location	chr7:117786363-117786364
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	chr7:117780592..117783227-chr7:117785006..117787831,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10226152	0.81[EUR][1000 genomes]
rs10227326	0.81[EUR][1000 genomes]
rs10229589	0.81[EUR][1000 genomes]
rs10272234	0.85[ASN][1000 genomes]
rs10487390	0.81[EUR][1000 genomes]
rs1054032	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1061731	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1117254	0.81[EUR][1000 genomes]
rs11486992	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs11543742	0.80[EUR][1000 genomes]
rs11979012	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs12112697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2058416	0.84[EUR][1000 genomes]
rs2191920	0.84[EUR][1000 genomes]
rs2402322	0.81[EUR][1000 genomes]
rs2896242	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs3802012	0.83[EUR][1000 genomes]
rs4141028	0.83[EUR][1000 genomes]
rs41908	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4535672	0.94[EUR][1000 genomes]
rs5002233	0.81[EUR][1000 genomes]
rs6944524	0.81[EUR][1000 genomes]
rs6946855	0.85[CEU][hapmap]
rs6948096	0.81[EUR][1000 genomes]
rs6965144	0.81[EUR][1000 genomes]
rs7796145	0.81[EUR][1000 genomes]
rs7796148	0.81[EUR][1000 genomes]
rs7797855	0.81[EUR][1000 genomes]
rs9655829	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs979652	0.81[EUR][1000 genomes]
rs9886333	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs989899	0.84[EUR][1000 genomes]
rs992035	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2041528	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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