Variant report

Variant	rs10993075
Chromosome Location	chr9:96925233-96925234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96901268..96903625-chr9:96924526..96926573,2	MCF-7	breast:
2	chr9:96791533..96793413-chr9:96923327..96926026,2	MCF-7	breast:
3	chr9:96924444..96926701-chr9:99178289..99180741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158079	Chromatin interaction
ENSG00000165244	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10512230	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10739971	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10761320	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10761323	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10761324	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10821305	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821306	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10821310	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10821311	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10821316	0.81[EUR][1000 genomes]
rs10821317	0.81[EUR][1000 genomes]
rs10993072	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10993073	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10993074	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10993095	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10993096	0.81[EUR][1000 genomes]
rs10993097	0.81[EUR][1000 genomes]
rs10993100	0.81[EUR][1000 genomes]
rs11790972	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12551019	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13293512	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2039012	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34181781	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36030019	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7025395	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7030004	0.81[EUR][1000 genomes]
rs7865876	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9409706	0.81[EUR][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	esv3435412	chr9:96924949-96935312	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96904000-96927200	Weak transcription	Thymus	Thymus
2	chr9:96919400-96925800	Weak transcription	Spleen	Spleen
3	chr9:96919400-96927600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:96919400-96927800	Weak transcription	Psoas Muscle	Psoas
5	chr9:96919600-96926000	Weak transcription	Primary T cells from cord blood	blood
6	chr9:96919600-96927800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:96919600-96927800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:96919800-96927200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:96920000-96927400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:96920000-96927800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:96920000-96927800	Weak transcription	Left Ventricle	heart
12	chr9:96920000-96927800	Weak transcription	Pancreas	Pancrea
13	chr9:96920000-96927800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:96920200-96927600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:96921600-96926000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:96921600-96927600	Weak transcription	Brain Substantia Nigra	brain
17	chr9:96921800-96927800	Weak transcription	HSMM	muscle
18	chr9:96922000-96926000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:96922200-96927400	Weak transcription	Brain Angular Gyrus	brain
20	chr9:96922200-96927600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:96922200-96927800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:96922200-96927800	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:96922200-96927800	Weak transcription	Fetal Lung	lung
24	chr9:96922400-96926000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:96922400-96927400	Weak transcription	Fetal Heart	heart
26	chr9:96922400-96927400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr9:96922400-96927600	Weak transcription	Brain Anterior Caudate	brain
28	chr9:96922400-96927600	Weak transcription	Fetal Kidney	kidney
29	chr9:96922400-96927800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:96922400-96927800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:96922400-96927800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:96922400-96927800	Weak transcription	Placenta	Placenta
33	chr9:96922400-96927800	Weak transcription	NH-A	brain
34	chr9:96922600-96927800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:96922600-96927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:96922800-96927800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:96923000-96926000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:96923000-96927600	Weak transcription	Fetal Intestine Large	intestine
39	chr9:96923200-96926000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:96923200-96927000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:96923200-96927200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:96923200-96927600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:96923200-96927600	Weak transcription	A549	lung
44	chr9:96923200-96927800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr9:96923200-96928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:96923400-96927600	Weak transcription	Fetal Intestine Small	intestine
47	chr9:96923400-96927800	Weak transcription	Fetal Muscle Leg	muscle
48	chr9:96923800-96927400	Weak transcription	Colon Smooth Muscle	Colon
49	chr9:96924000-96926800	Weak transcription	K562	blood
50	chr9:96924000-96927800	Weak transcription	Placenta Amnion	Placenta Amnion

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