Variant report

Variant	rs4887909
Chromosome Location	chr16:77533772-77533773
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	chr16:77531888..77534312-chr16:77536499..77538354,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10514418	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11149996	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11641815	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11648237	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12933465	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13335601	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13336130	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1389521	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888638	0.80[EUR][1000 genomes]
rs4888639	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4888640	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7190382	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7194124	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8056964	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9921323	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9921487	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9924653	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9928437	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065048	chr16:77003426-77675163	Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv2830376	chr16:77014551-77658185	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv1065149	chr16:77032082-77671890	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1056676	chr16:77139682-77854848	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	esv2761916	chr16:77277005-77555833	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1059194	chr16:77281068-77745928	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv542969	chr16:77281068-77745928	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1061875	chr16:77451850-78003403	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv906957	chr16:77457066-77643421	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv869119	chr16:77458671-78008053	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv573125	chr16:77502186-77576257	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv521833	chr16:77516263-77819441	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4887909	FA2H	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77532800-77534200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:77532800-77534200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr16:77532800-77534200	Enhancers	NHDF-Ad	bronchial
4	chr16:77532800-77534400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:77532800-77534400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr16:77532800-77535200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:77532800-77535600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:77532800-77535600	Enhancers	HUVEC	blood vessel
9	chr16:77532800-77536200	Enhancers	Adipose Nuclei	Adipose
10	chr16:77532800-77536200	Enhancers	Ovary	ovary
11	chr16:77533000-77533800	Enhancers	Osteobl	bone
12	chr16:77533000-77534000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:77533000-77534000	Bivalent Enhancer	Fetal Kidney	kidney
14	chr16:77533000-77536200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:77533200-77534600	Enhancers	Fetal Lung	lung
16	chr16:77533200-77536000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr16:77533400-77534600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr16:77533400-77535800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr16:77533400-77536000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:77533600-77533800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:77533600-77534400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr16:77533600-77534800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:77533600-77537200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr16:77533600-77537400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr16:77533600-77537600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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