Variant report

Variant	rs56021005
Chromosome Location	chr9:71175401-71175402
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	chr9:71175109..71177621-chr9:71180020..71182524,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs55678674	0.89[AMR][1000 genomes];0.97[EUR][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	nsv893413	chr9:71130848-71196984	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893411	chr9:71130848-71199545	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv893412	chr9:71130848-71199545	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1024967	chr9:71130848-71210031	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv482506	chr9:71130848-71280888	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56021005	RP11-274B18.2	cis	Whole Blood	GTEx
rs56021005	PGM5	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71173000-71176200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr9:71173200-71176200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr9:71173200-71177600	Enhancers	Primary hematopoietic stem cells	blood
4	chr9:71173400-71175600	Weak transcription	Right Ventricle	heart
5	chr9:71173600-71175800	Enhancers	Left Ventricle	heart
6	chr9:71173600-71175800	Enhancers	Right Atrium	heart
7	chr9:71173800-71176200	Enhancers	Colon Smooth Muscle	Colon
8	chr9:71174000-71175800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:71174000-71175800	Enhancers	Spleen	Spleen
10	chr9:71174200-71176200	Enhancers	Fetal Kidney	kidney
11	chr9:71174200-71181600	Weak transcription	Gastric	stomach
12	chr9:71174400-71175800	Enhancers	Stomach Mucosa	stomach
13	chr9:71174600-71175800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr9:71174600-71175800	Enhancers	Primary B cells from peripheral blood	blood
15	chr9:71174600-71175800	Enhancers	Fetal Muscle Leg	muscle
16	chr9:71174600-71176400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:71174800-71175600	Enhancers	Adipose Nuclei	Adipose
18	chr9:71174800-71175600	Enhancers	Fetal Intestine Small	intestine
19	chr9:71174800-71175600	Enhancers	Psoas Muscle	Psoas
20	chr9:71174800-71175600	Enhancers	GM12878-XiMat	blood
21	chr9:71174800-71175800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:71174800-71175800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr9:71174800-71175800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr9:71174800-71175800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:71174800-71175800	Enhancers	Fetal Lung	lung
26	chr9:71174800-71175800	Enhancers	Fetal Muscle Trunk	muscle
27	chr9:71174800-71176000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr9:71174800-71176000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr9:71174800-71176200	Enhancers	Fetal Stomach	stomach
30	chr9:71174800-71176200	Enhancers	Ovary	ovary
31	chr9:71174800-71176200	Enhancers	Rectal Smooth Muscle	rectum
32	chr9:71174800-71176200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr9:71174800-71176200	Enhancers	Stomach Smooth Muscle	stomach
34	chr9:71175000-71175600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:71175000-71175800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:71175000-71175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:71175000-71175800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr9:71175000-71175800	Enhancers	Duodenum Mucosa	Duodenum
39	chr9:71175000-71175800	Enhancers	Fetal Intestine Large	intestine
40	chr9:71175000-71176000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:71175000-71176200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:71175000-71176200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:71175000-71176200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:71175000-71176200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr9:71175200-71175600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr9:71175200-71175600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
47	chr9:71175200-71175600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr9:71175200-71175600	Weak transcription	Lung	lung
49	chr9:71175200-71175800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:71175200-71175800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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