Variant report

Variant	rs9508593
Chromosome Location	chr13:30500009-30500010
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30498204..30500565-chr13:30503827..30506540,2	MCF-7	breast:
2	chr13:30498030..30500017-chr13:30505243..30508039,2	K562	blood:
3	chr13:30498435..30501654-chr13:30681390..30683059,3	MCF-7	breast:
4	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
5	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
6	chr13:30414305..30417482-chr13:30498003..30500774,5	MCF-7	breast:
7	chr13:30420962..30426189-chr13:30489163..30500098,34	MCF-7	breast:
8	chr13:30494996..30500904-chr13:30681667..30688775,12	MCF-7	breast:
9	chr13:30497791..30500360-chr13:30674614..30679278,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction
ENSG00000224511	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs3847988	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs492404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs503010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598473	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61947282	0.88[EUR][1000 genomes]
rs61947284	0.88[EUR][1000 genomes]
rs61947285	0.88[EUR][1000 genomes]
rs660017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323424	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs927734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30491600-30501000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30492400-30500600	Enhancers	HMEC	breast
3	chr13:30494200-30501400	Enhancers	Stomach Mucosa	stomach
4	chr13:30495600-30500400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:30496000-30500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:30496400-30500200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:30496400-30500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:30496400-30500200	Enhancers	Fetal Muscle Leg	muscle
9	chr13:30496400-30500200	Enhancers	NHLF	lung
10	chr13:30496400-30500400	Enhancers	Placenta	Placenta
11	chr13:30496400-30500600	Enhancers	NHDF-Ad	bronchial
12	chr13:30496600-30500800	Enhancers	Liver	Liver
13	chr13:30496800-30500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:30496800-30500400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr13:30496800-30500800	Enhancers	Brain Hippocampus Middle	brain
16	chr13:30496800-30501000	Enhancers	Fetal Intestine Small	intestine
17	chr13:30497000-30500800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr13:30497000-30501000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr13:30497200-30500600	Enhancers	Primary T cells from cord blood	blood
20	chr13:30497200-30500600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr13:30497200-30500800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr13:30497200-30500800	Enhancers	Fetal Lung	lung
23	chr13:30497400-30500400	Enhancers	Fetal Heart	heart
24	chr13:30497400-30500600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:30497400-30500800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr13:30497600-30500400	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:30497600-30501000	Enhancers	Right Atrium	heart
28	chr13:30498000-30500200	Enhancers	NH-A	brain
29	chr13:30498000-30500400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr13:30498000-30500600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:30498200-30500400	Enhancers	Fetal Brain Female	brain
32	chr13:30498400-30500600	Enhancers	Fetal Brain Male	brain
33	chr13:30498400-30500800	Enhancers	Aorta	Aorta
34	chr13:30498400-30508000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:30498600-30500200	Enhancers	Colon Smooth Muscle	Colon
36	chr13:30498600-30500200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr13:30498800-30500200	Enhancers	HSMM	muscle
38	chr13:30498800-30500400	Enhancers	Stomach Smooth Muscle	stomach
39	chr13:30498800-30500800	Enhancers	Hela-S3	cervix
40	chr13:30498800-30501000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr13:30499000-30500200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr13:30499000-30500200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr13:30499000-30500400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:30499000-30500400	Enhancers	Osteobl	bone
46	chr13:30499000-30500600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:30499000-30510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr13:30499200-30509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr13:30499400-30500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:30499400-30500200	Enhancers	Adipose Nuclei	Adipose

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