Variant report

Variant	rs4585835
Chromosome Location	chr9:21577766-21577767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10491563	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10491564	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10964990	1.00[AFR][1000 genomes]
rs10964991	1.00[AFR][1000 genomes]
rs10964992	1.00[AFR][1000 genomes]
rs12685827	0.97[ASN][1000 genomes]
rs12686498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13294656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1351077	1.00[AFR][1000 genomes]
rs16938462	0.97[ASN][1000 genomes]
rs16938465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16938468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4977727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4978118	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
2	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4585835	BCLAF1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21575400-21577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:21575800-21592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:21576000-21577800	Flanking Active TSS	Hela-S3	cervix
4	chr9:21576000-21578800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:21576000-21578800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr9:21576200-21578800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr9:21576200-21578800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr9:21576400-21577800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr9:21576400-21578000	Enhancers	GM12878-XiMat	blood
10	chr9:21576400-21578800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr9:21576600-21577800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr9:21576600-21579000	Weak transcription	Stomach Mucosa	stomach
13	chr9:21576600-21579200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:21576800-21578000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:21576800-21578800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:21577000-21577800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:21577000-21577800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:21577000-21577800	Enhancers	HSMM	muscle
19	chr9:21577000-21578000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:21577000-21578200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:21577000-21578400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:21577000-21578600	Enhancers	Primary T cells from cord blood	blood
23	chr9:21577000-21578600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr9:21577000-21578800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:21577000-21578800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr9:21577000-21578800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:21577000-21578800	Weak transcription	Thymus	Thymus
28	chr9:21577200-21577800	Enhancers	HSMMtube	muscle
29	chr9:21577200-21578000	Enhancers	HMEC	breast
30	chr9:21577200-21578200	Flanking Active TSS	A549	lung
31	chr9:21577200-21578200	Enhancers	HUVEC	blood vessel
32	chr9:21577200-21578200	Enhancers	NH-A	brain
33	chr9:21577200-21578200	Enhancers	NHDF-Ad	bronchial
34	chr9:21577200-21578600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:21577200-21578800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr9:21577200-21585800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:21577400-21578200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:21577400-21578200	Enhancers	NHEK	skin
39	chr9:21577400-21578800	Enhancers	NHLF	lung
40	chr9:21577400-21579600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:21577600-21577800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:21577600-21577800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:21577600-21577800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr9:21577600-21577800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:21577600-21577800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:21577600-21577800	Flanking Active TSS	Osteobl	bone
47	chr9:21577600-21578000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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