Variant report

Variant	rs10117305
Chromosome Location	chr9:96950459-96950460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96945873..96948322-chr9:96948466..96951194,2	MCF-7	breast:
2	chr9:96943921..96946821-chr9:96947982..96950934,2	MCF-7	breast:
3	chr9:96761819..96764816-chr9:96950228..96952225,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10115278	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10117272	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10122644	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512232	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821307	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821312	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993093	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12342389	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345620	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12378444	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744321	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744326	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479530	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67631527	0.86[ASN][1000 genomes]
rs7038156	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7865658	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8115	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:56 , 50 per page) page: 1 2

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	chr9:96939600-96950600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr9:96939800-96960800	Weak transcription	NHDF-Ad	bronchial
5	chr9:96940400-96955600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:96941400-96959400	Weak transcription	Spleen	Spleen
7	chr9:96942200-96950600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:96942400-96953200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr9:96942400-96957600	Weak transcription	Colon Smooth Muscle	Colon
10	chr9:96942400-96964000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:96943000-96952200	Weak transcription	HMEC	breast
12	chr9:96944400-96959400	Weak transcription	Psoas Muscle	Psoas
13	chr9:96945000-96951000	Weak transcription	Brain Angular Gyrus	brain
14	chr9:96945000-96955000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:96945200-96951600	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:96945200-96955200	Weak transcription	Fetal Heart	heart
17	chr9:96946000-96951400	Weak transcription	Brain Substantia Nigra	brain
18	chr9:96946200-96950600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:96946200-96950600	Weak transcription	Right Ventricle	heart
20	chr9:96946200-96951000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:96946200-96953200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:96946200-96957000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:96946200-96959400	Weak transcription	Aorta	Aorta
24	chr9:96946200-96962800	Weak transcription	Gastric	stomach
25	chr9:96946200-96965000	Weak transcription	NHLF	lung
26	chr9:96946400-96950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:96946600-96954000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:96946800-96950600	Weak transcription	Adipose Nuclei	Adipose
29	chr9:96946800-96955200	Weak transcription	HSMMtube	muscle
30	chr9:96946800-96955400	Weak transcription	NH-A	brain
31	chr9:96946800-96957200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:96946800-96957800	Weak transcription	Primary T cells from cord blood	blood
33	chr9:96946800-96965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:96947000-96955200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr9:96947000-96957400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:96947000-96959400	Weak transcription	Left Ventricle	heart
37	chr9:96947000-96959800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:96947000-96966200	Weak transcription	Fetal Kidney	kidney
39	chr9:96947200-96950600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:96947200-96959200	Weak transcription	NHEK	skin
41	chr9:96948000-96951000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:96948400-96950800	Strong transcription	Fetal Lung	lung
43	chr9:96948600-96950600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:96949400-96950600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:96949400-96951200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:96949400-96952200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:96949400-96960200	Weak transcription	Placenta	Placenta
48	chr9:96949600-96951200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:96949800-96951000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:96949800-96951200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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