Variant report

Variant	rs16910491
Chromosome Location	chr9:116673027-116673028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116672204..116673928-chr9:116680412..116682576,2	MCF-7	breast:
2	chr9:116668474..116670101-chr9:116671366..116673510,2	MCF-7	breast:
3	chr9:116637548..116639400-chr9:116672960..116675906,2	MCF-7	breast:
4	chr9:116672519..116674297-chr9:116675403..116677434,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157657	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12554824	0.84[JPT][hapmap];0.93[AMR][1000 genomes]
rs16910261	0.82[CHD][hapmap];0.84[JPT][hapmap]
rs16910363	1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16910655	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16910725	0.89[AMR][1000 genomes]
rs1807280	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2150013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2150016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35075864	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4978558	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4979299	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4979304	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4979305	0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58148408	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58242755	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60615197	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60678033	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61033589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62559169	0.84[ASN][1000 genomes]
rs7862623	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7866488	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7867159	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs871807	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16910491	PENK	trans	brain	seeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116651200-116675000	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:116653800-116674000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:116659400-116685400	Weak transcription	A549	lung
4	chr9:116664000-116674400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:116666400-116683800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:116666600-116683000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:116667200-116674200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:116667400-116684400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:116667800-116673200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:116668000-116681800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:116668800-116678800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:116669400-116674400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:116669400-116675000	Weak transcription	Adipose Nuclei	Adipose
14	chr9:116669400-116675400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:116669400-116675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:116669400-116683000	Weak transcription	Osteobl	bone
17	chr9:116669600-116674200	Weak transcription	NHLF	lung
18	chr9:116669600-116674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:116669600-116674400	Weak transcription	Aorta	Aorta
20	chr9:116669600-116674400	Weak transcription	Brain Anterior Caudate	brain
21	chr9:116669600-116675000	Weak transcription	NHDF-Ad	bronchial
22	chr9:116669600-116690400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:116669800-116673600	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:116669800-116674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:116669800-116674200	Weak transcription	NHEK	skin
26	chr9:116669800-116674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:116669800-116674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:116669800-116674400	Weak transcription	HSMM	muscle
29	chr9:116669800-116675400	Weak transcription	Right Atrium	heart
30	chr9:116669800-116683600	Weak transcription	HUVEC	blood vessel
31	chr9:116670000-116674200	Weak transcription	Esophagus	oesophagus
32	chr9:116670000-116674400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:116670000-116674400	Weak transcription	HSMMtube	muscle
34	chr9:116670000-116675200	Weak transcription	Psoas Muscle	Psoas
35	chr9:116670000-116675600	Weak transcription	Small Intestine	intestine
36	chr9:116670200-116674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:116670200-116674200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:116670200-116674400	Weak transcription	Fetal Stomach	stomach
39	chr9:116670400-116674000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:116670400-116674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:116670600-116673800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:116670600-116674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:116670600-116674000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr9:116670600-116674400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr9:116670600-116674400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:116671200-116677400	Weak transcription	Thymus	Thymus
47	chr9:116671400-116674200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr9:116671600-116675000	Weak transcription	Spleen	Spleen
49	chr9:116671600-116676800	Enhancers	Stomach Mucosa	stomach
50	chr9:116671600-116678000	Weak transcription	Fetal Intestine Large	intestine

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