Variant report

Variant	rs666216
Chromosome Location	chr9:116378459-116378460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116364314..116366664-chr9:116377313..116378930,2	MCF-7	breast:
2	chr9:116368318..116370482-chr9:116376784..116379532,2	MCF-7	breast:
3	chr9:116376834..116379828-chr9:116381468..116382973,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233817	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1547694	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812400	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475129	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs479766	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502942	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505668	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569679	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632629	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637175	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
11	esv3330945	chr9:116374331-116378629	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv466511	chr9:116374990-116397397	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv615219	chr9:116374990-116397397	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116371200-116380200	Enhancers	Fetal Muscle Leg	muscle
2	chr9:116371800-116379400	Enhancers	Left Ventricle	heart
3	chr9:116372800-116379400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:116373600-116379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:116373600-116382400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:116373800-116379400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:116373800-116379600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:116373800-116380000	Enhancers	Spleen	Spleen
9	chr9:116375200-116379800	Enhancers	Right Ventricle	heart
10	chr9:116375600-116382400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:116375800-116379400	Enhancers	Lung	lung
12	chr9:116376200-116378600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:116376200-116378600	Enhancers	Liver	Liver
14	chr9:116376200-116379200	Enhancers	Fetal Heart	heart
15	chr9:116376200-116379400	Enhancers	Brain Substantia Nigra	brain
16	chr9:116376200-116379400	Enhancers	NHLF	lung
17	chr9:116376200-116379800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:116376200-116380000	Enhancers	Ovary	ovary
19	chr9:116376200-116380200	Enhancers	Fetal Stomach	stomach
20	chr9:116376200-116386000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr9:116376400-116379000	Enhancers	Right Atrium	heart
22	chr9:116376400-116380200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:116376800-116378800	Weak transcription	Fetal Brain Male	brain
24	chr9:116376800-116379000	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:116376800-116379000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:116376800-116379800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:116376800-116380000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:116376800-116382200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr9:116377000-116378600	Enhancers	Aorta	Aorta
30	chr9:116377000-116379000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:116377000-116379200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:116377000-116379600	Enhancers	Placenta	Placenta
33	chr9:116377000-116382200	Enhancers	Primary B cells from cord blood	blood
34	chr9:116377000-116382800	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:116377200-116378600	Enhancers	Brain Anterior Caudate	brain
36	chr9:116377200-116379200	Enhancers	HUVEC	blood vessel
37	chr9:116377400-116379000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:116377400-116380200	Enhancers	Fetal Lung	lung
39	chr9:116377400-116381600	Weak transcription	Brain Germinal Matrix	brain
40	chr9:116377400-116382200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:116377400-116382400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:116377600-116378600	Bivalent Enhancer	HepG2	liver
43	chr9:116377600-116378800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:116377600-116379600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:116377800-116378600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:116377800-116378600	Enhancers	Fetal Intestine Large	intestine
47	chr9:116377800-116378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:116377800-116378800	Enhancers	Esophagus	oesophagus
49	chr9:116377800-116379000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:116377800-116379000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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