Variant report

Variant	rs62578801
Chromosome Location	chr9:96956391-96956392
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	chr9:96940509..96942444-chr9:96955765..96958310,2	K562	blood:

Variant related genes	Relation type
ENSG00000199133	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10512231	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10993068	0.81[ASN][1000 genomes]
rs10993069	0.81[ASN][1000 genomes]
rs10993090	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993094	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788788	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12336926	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12337981	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12338333	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12338885	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339587	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12341175	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12345069	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12347752	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13295163	0.81[ASN][1000 genomes]
rs13439971	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13440059	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1421135	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34582118	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36044301	0.81[ASN][1000 genomes]
rs55653563	0.86[ASN][1000 genomes]
rs55881323	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56006511	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62575976	0.81[ASN][1000 genomes]
rs62575977	0.81[ASN][1000 genomes]
rs62578777	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62578780	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62578804	0.86[ASN][1000 genomes]
rs7037996	0.81[ASN][1000 genomes]
rs7041934	0.81[ASN][1000 genomes]
rs7864156	0.81[ASN][1000 genomes]
rs7868381	0.81[ASN][1000 genomes]
rs7871468	0.81[ASN][1000 genomes]
rs7872931	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7873928	0.81[ASN][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	nsv482457	chr9:96813852-96996170	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	217 gene(s)	inside rSNPs	diseases
2	nsv831655	chr9:96834042-97042009	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	218 gene(s)	inside rSNPs	diseases
3	esv3394266	chr9:96935210-97045514	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	195 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96931400-96965600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:96937200-96959400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:96939800-96960800	Weak transcription	NHDF-Ad	bronchial
4	chr9:96941400-96959400	Weak transcription	Spleen	Spleen
5	chr9:96942400-96957600	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:96942400-96964000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:96944400-96959400	Weak transcription	Psoas Muscle	Psoas
8	chr9:96946200-96957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:96946200-96959400	Weak transcription	Aorta	Aorta
10	chr9:96946200-96962800	Weak transcription	Gastric	stomach
11	chr9:96946200-96965000	Weak transcription	NHLF	lung
12	chr9:96946800-96957200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:96946800-96957800	Weak transcription	Primary T cells from cord blood	blood
14	chr9:96946800-96965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:96947000-96957400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:96947000-96959400	Weak transcription	Left Ventricle	heart
17	chr9:96947000-96959800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:96947000-96966200	Weak transcription	Fetal Kidney	kidney
19	chr9:96947200-96959200	Weak transcription	NHEK	skin
20	chr9:96949400-96960200	Weak transcription	Placenta	Placenta
21	chr9:96949800-96957000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:96951200-96956800	Weak transcription	HSMM	muscle
23	chr9:96954200-96956800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:96954200-96958600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:96954200-96959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:96955000-96964600	Weak transcription	Ovary	ovary
27	chr9:96955200-96957400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:96955200-96958400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:96955400-96962200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:96955600-96956800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:96955600-96959600	Weak transcription	HSMMtube	muscle
32	chr9:96955800-96956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:96955800-96956400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:96955800-96956800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:96955800-96957400	Weak transcription	Osteobl	bone
36	chr9:96955800-96957600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:96955800-96962800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:96956000-96956800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:96956000-96957400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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