Variant report

Variant	rs10993073
Chromosome Location	chr9:96919905-96919906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96917519..96921263-chr9:96921727..96924790,3	MCF-7	breast:
2	chr9:96912919..96916926-chr9:96917380..96923023,7	K562	blood:
3	chr9:96918061..96921020-chr9:96938422..96940246,2	MCF-7	breast:
4	chr9:96911035..96912883-chr9:96918874..96920896,2	MCF-7	breast:
5	chr9:96905504..96908787-chr9:96918594..96920364,3	MCF-7	breast:
6	chr9:96900977..96902501-chr9:96919516..96921302,2	K562	blood:

Variant related genes	Relation type
ENSG00000199072	Chromatin interaction
ENSG00000269929	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10512230	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10739971	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761320	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10761323	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10761324	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10821305	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821306	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821310	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10821311	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821316	0.85[EUR][1000 genomes]
rs10821317	0.85[EUR][1000 genomes]
rs10993072	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10993074	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10993075	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10993095	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10993096	0.85[EUR][1000 genomes]
rs10993097	0.85[EUR][1000 genomes]
rs10993100	0.85[EUR][1000 genomes]
rs11790972	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12004367	0.84[EUR][1000 genomes]
rs12551019	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13293512	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2039012	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34181781	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36030019	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7025395	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7030004	0.85[EUR][1000 genomes]
rs7865876	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9409706	0.85[EUR][1000 genomes]
rs9409710	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96904000-96927200	Weak transcription	Thymus	Thymus
2	chr9:96914000-96921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:96914000-96921400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:96914200-96921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:96918400-96920000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr9:96918400-96920000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr9:96918400-96920000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:96918400-96920000	Enhancers	Adipose Nuclei	Adipose
9	chr9:96918400-96920000	Enhancers	Stomach Mucosa	stomach
10	chr9:96918400-96920400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:96918400-96921600	Enhancers	Primary hematopoietic stem cells	blood
12	chr9:96918600-96920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:96918600-96920000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:96918600-96920000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:96918600-96920000	Enhancers	Brain Substantia Nigra	brain
16	chr9:96918600-96920000	Enhancers	Fetal Muscle Trunk	muscle
17	chr9:96918600-96920000	Enhancers	Fetal Muscle Leg	muscle
18	chr9:96918600-96920000	Enhancers	Left Ventricle	heart
19	chr9:96918800-96920000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:96918800-96920000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:96918800-96920000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:96918800-96920000	Enhancers	Brain Cingulate Gyrus	brain
23	chr9:96918800-96920000	Enhancers	Brain Hippocampus Middle	brain
24	chr9:96918800-96920000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:96918800-96920000	Enhancers	Gastric	stomach
26	chr9:96918800-96920000	Enhancers	Right Atrium	heart
27	chr9:96918800-96920000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr9:96918800-96920000	Enhancers	HMEC	breast
29	chr9:96918800-96920000	Enhancers	NHEK	skin
30	chr9:96918800-96920400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:96918800-96920600	Enhancers	Brain Anterior Caudate	brain
32	chr9:96918800-96922400	Enhancers	HepG2	liver
33	chr9:96919000-96920000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr9:96919000-96920000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:96919000-96920000	Enhancers	Colon Smooth Muscle	Colon
36	chr9:96919000-96920000	Enhancers	Fetal Stomach	stomach
37	chr9:96919000-96920000	Enhancers	Pancreas	Pancrea
38	chr9:96919000-96920000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr9:96919000-96920000	Enhancers	HUVEC	blood vessel
40	chr9:96919000-96920200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr9:96919000-96920200	Enhancers	NH-A	brain
42	chr9:96919000-96920800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:96919000-96922400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr9:96919200-96920000	Enhancers	Hela-S3	cervix
45	chr9:96919200-96924000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:96919400-96920000	Enhancers	Fetal Kidney	kidney
47	chr9:96919400-96921400	Weak transcription	Aorta	Aorta
48	chr9:96919400-96921400	Weak transcription	Brain Angular Gyrus	brain
49	chr9:96919400-96921600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:96919400-96921600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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