Variant report

Variant	rs12553894
Chromosome Location	chr9:72197443-72197444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72192844..72194505-chr9:72195601..72198020,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11139414	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11999656	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12000827	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000908	0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12006272	0.85[EUR][1000 genomes]
rs12552474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12553941	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12554978	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12555100	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1411439	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411441	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1411442	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3927537	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4636268	0.85[EUR][1000 genomes]
rs56654380	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57512468	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58638129	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58667541	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58898534	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59791186	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60759202	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7036538	0.80[YRI][hapmap];0.85[EUR][1000 genomes]
rs72717199	0.85[EUR][1000 genomes]
rs72719005	0.85[EUR][1000 genomes]
rs72719017	0.85[EUR][1000 genomes]
rs72719024	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73647250	0.85[EUR][1000 genomes]
rs73647252	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647254	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647255	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73647259	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647260	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73647261	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647262	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647263	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647264	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73647265	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73647266	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7849601	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7861451	0.85[EUR][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	nsv893437	chr9:72118962-72223176	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72180400-72208400	Weak transcription	Gastric	stomach
2	chr9:72186200-72200800	Weak transcription	HSMMtube	muscle
3	chr9:72187400-72204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72187800-72198600	Weak transcription	NHDF-Ad	bronchial
5	chr9:72188800-72198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:72189400-72199200	Weak transcription	NH-A	brain
7	chr9:72193200-72204400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:72193400-72200200	Weak transcription	Right Ventricle	heart
9	chr9:72195000-72198800	Enhancers	Left Ventricle	heart
10	chr9:72195200-72197600	Weak transcription	Small Intestine	intestine
11	chr9:72195200-72198000	Weak transcription	Stomach Mucosa	stomach
12	chr9:72195400-72198400	Enhancers	Liver	Liver
13	chr9:72195400-72200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:72195400-72200600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:72195800-72208200	Weak transcription	Fetal Lung	lung
16	chr9:72196000-72198000	Weak transcription	Brain Germinal Matrix	brain
17	chr9:72196000-72204800	Weak transcription	Fetal Brain Male	brain
18	chr9:72196200-72204800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:72196400-72199400	Enhancers	Fetal Heart	heart
20	chr9:72196400-72201000	Enhancers	HUVEC	blood vessel
21	chr9:72196800-72197800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr9:72196800-72198000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr9:72196800-72198400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr9:72197000-72197600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:72197000-72198200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:72197000-72198200	Enhancers	NHEK	skin
27	chr9:72197200-72197600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr9:72197200-72197800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:72197200-72197800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:72197200-72198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:72197200-72198000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr9:72197200-72198200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:72197200-72198200	Enhancers	Adipose Nuclei	Adipose
34	chr9:72197200-72198400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr9:72197200-72201000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:72197400-72197600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
37	chr9:72197400-72197600	Enhancers	Duodenum Mucosa	Duodenum
38	chr9:72197400-72197800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:72197400-72198200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:72197400-72198200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:72197400-72198200	Enhancers	Esophagus	oesophagus
42	chr9:72197400-72198800	Weak transcription	Brain Angular Gyrus	brain
43	chr9:72197400-72199000	Enhancers	Right Atrium	heart
44	chr9:72197400-72199200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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