Variant report

Variant	rs482318
Chromosome Location	chr9:116373700-116373701
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	chr9:116373324..116375940-chr9:116380563..116382794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233817	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10981835	1.00[CHD][hapmap]
rs2812398	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs561305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567743	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs568557	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs569679	0.81[GIH][hapmap]
rs585689	0.96[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586265	0.82[MEX][hapmap]
rs587614	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656311	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664850	0.82[MEX][hapmap]
rs785099	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944343	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv615218	chr9:116365126-116391069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr9:116366200-116375800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:116370200-116374000	Enhancers	HUVEC	blood vessel
3	chr9:116371200-116377800	Weak transcription	Esophagus	oesophagus
4	chr9:116371200-116380200	Enhancers	Fetal Muscle Leg	muscle
5	chr9:116371800-116373800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr9:116371800-116373800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:116371800-116373800	Enhancers	NHDF-Ad	bronchial
8	chr9:116371800-116374200	Enhancers	Fetal Heart	heart
9	chr9:116371800-116374400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:116371800-116375400	Enhancers	Pancreas	Pancrea
11	chr9:116371800-116377600	Enhancers	Adipose Nuclei	Adipose
12	chr9:116371800-116379400	Enhancers	Left Ventricle	heart
13	chr9:116372200-116373800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:116372200-116375200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:116372200-116376800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:116372200-116377000	Weak transcription	Fetal Intestine Large	intestine
17	chr9:116372400-116376200	Weak transcription	Brain Substantia Nigra	brain
18	chr9:116372400-116376400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:116372400-116376400	Weak transcription	Brain Angular Gyrus	brain
20	chr9:116372400-116376400	Weak transcription	NH-A	brain
21	chr9:116372400-116376800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:116372400-116376800	Weak transcription	Fetal Intestine Small	intestine
23	chr9:116372400-116377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:116372400-116377000	Weak transcription	HMEC	breast
25	chr9:116372600-116375000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:116372600-116376200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:116372600-116376200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:116372600-116376200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr9:116372600-116376200	Weak transcription	Aorta	Aorta
30	chr9:116372600-116376200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:116372600-116376200	Weak transcription	Colon Smooth Muscle	Colon
32	chr9:116372600-116376800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr9:116372600-116376800	Weak transcription	Osteobl	bone
34	chr9:116372600-116377000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr9:116372600-116377200	Weak transcription	Brain Anterior Caudate	brain
36	chr9:116372800-116373800	Enhancers	NHLF	lung
37	chr9:116372800-116374000	Enhancers	Gastric	stomach
38	chr9:116372800-116375600	Weak transcription	HSMM	muscle
39	chr9:116372800-116376200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:116372800-116376200	Weak transcription	Ovary	ovary
41	chr9:116372800-116376600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:116372800-116376600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:116372800-116379400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:116373000-116376200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:116373000-116376200	Weak transcription	Fetal Lung	lung
46	chr9:116373000-116376400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:116373000-116376400	Weak transcription	Stomach Mucosa	stomach
48	chr9:116373000-116376400	Enhancers	HepG2	liver
49	chr9:116373200-116376400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:116373200-116376600	Weak transcription	Brain Hippocampus Middle	brain

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