Variant report

Variant	rs2457715
Chromosome Location	chr9:94089620-94089621
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	chr9:94084981..94087043-chr9:94088153..94089790,2	K562	blood:
2	chr9:94079615..94081294-chr9:94087767..94090304,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1615811	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1972090	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs1995933	0.97[ASN][1000 genomes]
rs2015325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs298717	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs298721	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs298723	0.94[ASN][1000 genomes]
rs4744042	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs773514	0.84[ASN][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	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94033800-94096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:94039200-94089800	Weak transcription	Esophagus	oesophagus
3	chr9:94052000-94119200	Weak transcription	Small Intestine	intestine
4	chr9:94053400-94103800	Weak transcription	HSMMtube	muscle
5	chr9:94058800-94091800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr9:94059600-94103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr9:94059800-94101400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr9:94065400-94101400	Weak transcription	K562	blood
9	chr9:94065600-94091400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:94065600-94102000	Weak transcription	Hela-S3	cervix
11	chr9:94066400-94103400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:94066800-94104000	Weak transcription	HSMM	muscle
13	chr9:94067800-94094400	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:94069000-94089800	Weak transcription	Aorta	Aorta
15	chr9:94069200-94096200	Weak transcription	Psoas Muscle	Psoas
16	chr9:94072800-94101200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:94074600-94103800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr9:94075400-94089800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:94075800-94089800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:94075800-94104200	Weak transcription	NHEK	skin
21	chr9:94077800-94089800	Weak transcription	Pancreas	Pancrea
22	chr9:94080800-94101000	Weak transcription	Fetal Kidney	kidney
23	chr9:94080800-94102400	Weak transcription	Colonic Mucosa	Colon
24	chr9:94081000-94101000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr9:94081200-94089800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:94082200-94089800	Weak transcription	Left Ventricle	heart
27	chr9:94082200-94094800	Weak transcription	Fetal Heart	heart
28	chr9:94082200-94095000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr9:94082200-94104000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr9:94082400-94089800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:94082400-94089800	Weak transcription	Gastric	stomach
32	chr9:94083000-94089800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr9:94084400-94104200	Weak transcription	NHDF-Ad	bronchial
34	chr9:94086600-94090200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr9:94087600-94089800	Strong transcription	Fetal Intestine Large	intestine
36	chr9:94087800-94089800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:94087800-94103600	Weak transcription	A549	lung
38	chr9:94088000-94090600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:94088000-94090800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:94088000-94091000	Strong transcription	Primary T cells from cord blood	blood
41	chr9:94088200-94092600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:94088600-94099800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:94089200-94089800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr9:94089200-94089800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:94089200-94089800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr9:94089200-94089800	Strong transcription	Fetal Stomach	stomach
47	chr9:94089200-94090000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:94089200-94090000	ZNF genes & repeats	Brain Hippocampus Middle	brain
49	chr9:94089200-94090400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:94089200-94090400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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