Variant report

Variant	rs875752
Chromosome Location	chr11:87150454-87150455
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	chr11:87150046..87153328-chr11:87153657..87156160,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1001592	0.84[ASN][1000 genomes]
rs10751161	0.85[EUR][1000 genomes]
rs10751162	0.85[EUR][1000 genomes]
rs10751163	0.85[EUR][1000 genomes]
rs10792955	0.85[EUR][1000 genomes]
rs11235140	0.96[ASN][1000 genomes]
rs11235142	0.83[AMR][1000 genomes]
rs11235145	0.82[AMR][1000 genomes]
rs11235146	1.00[ASN][1000 genomes]
rs11235151	0.85[EUR][1000 genomes]
rs11235156	0.84[EUR][1000 genomes]
rs12281894	0.84[EUR][1000 genomes]
rs12284060	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186726	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2186728	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2212463	1.00[ASN][1000 genomes]
rs4127380	0.87[EUR][1000 genomes]
rs4127381	0.87[EUR][1000 genomes]
rs4445657	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514448	0.82[AMR][1000 genomes]
rs4943985	0.81[AMR][1000 genomes]
rs4944707	1.00[ASN][1000 genomes]
rs4944708	0.85[EUR][1000 genomes]
rs7127837	0.96[ASN][1000 genomes]
rs7131614	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722620	0.85[EUR][1000 genomes]
rs7946298	0.84[EUR][1000 genomes]
rs875751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1039172	chr11:87068731-87385458	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs875752	CCDC89	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87142800-87150800	Weak transcription	Right Atrium	heart
2	chr11:87143800-87155800	Weak transcription	Adipose Nuclei	Adipose
3	chr11:87144800-87150800	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:87147400-87152200	Enhancers	NHLF	lung
5	chr11:87148400-87152000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:87148400-87152000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:87148400-87152200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:87148400-87153000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:87148400-87157600	Enhancers	NHDF-Ad	bronchial
10	chr11:87148600-87152600	Enhancers	HSMM	muscle
11	chr11:87149000-87150800	Weak transcription	Fetal Heart	heart
12	chr11:87149600-87150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:87149600-87150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:87149600-87152400	Enhancers	HSMMtube	muscle
15	chr11:87149600-87155400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:87149600-87162000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:87149800-87151000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:87149800-87155400	Weak transcription	NH-A	brain
19	chr11:87149800-87155600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:87150200-87150600	Weak transcription	Osteobl	bone
21	chr11:87150400-87151000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:87150400-87152200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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