Variant report

Variant	rs12380714
Chromosome Location	chr9:116790108-116790109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10116543	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10118282	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10982036	0.88[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10982037	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10982039	0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs10982044	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10982046	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12378906	1.00[GIH][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12555049	1.00[GIH][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1359171	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1359172	0.88[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16911753	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41277651	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs700125	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs7846976	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7856141	1.00[GIH][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7869264	1.00[GIH][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.88[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	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116733400-116800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116764600-116797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:116766000-116792600	Weak transcription	Stomach Mucosa	stomach
4	chr9:116766000-116798000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:116766200-116799000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:116768400-116794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:116769400-116790400	Weak transcription	Right Ventricle	heart
9	chr9:116773600-116809200	Weak transcription	Fetal Heart	heart
10	chr9:116774000-116791200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:116774000-116791200	Weak transcription	Fetal Brain Male	brain
12	chr9:116774200-116798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:116774600-116790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:116780200-116798600	Weak transcription	Colonic Mucosa	Colon
15	chr9:116780600-116796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:116780800-116791000	Weak transcription	Gastric	stomach
17	chr9:116780800-116791000	Weak transcription	Pancreas	Pancrea
18	chr9:116780800-116791200	Weak transcription	Thymus	Thymus
19	chr9:116780800-116792800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:116780800-116796800	Weak transcription	Brain Angular Gyrus	brain
21	chr9:116780800-116798000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:116780800-116800200	Weak transcription	Esophagus	oesophagus
23	chr9:116781000-116790800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:116781000-116790800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:116781000-116797600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:116781400-116790600	Weak transcription	Lung	lung
27	chr9:116784000-116798000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr9:116785200-116796000	Weak transcription	NHDF-Ad	bronchial
29	chr9:116785200-116811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:116785400-116790200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:116785400-116790800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr9:116785400-116798200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr9:116785400-116799000	Weak transcription	Brain Substantia Nigra	brain
34	chr9:116785400-116810600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:116785800-116790600	Weak transcription	Liver	Liver
36	chr9:116785800-116791200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr9:116785800-116798000	Weak transcription	NH-A	brain
38	chr9:116785800-116798400	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:116786000-116792400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:116786400-116791200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:116786400-116791400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr9:116786400-116796800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr9:116786400-116798800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr9:116786600-116792400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:116786800-116790200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:116786800-116793800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:116786800-116794200	Strong transcription	Fetal Stomach	stomach
48	chr9:116786800-116794800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr9:116786800-116799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:116787000-116791400	Weak transcription	Osteobl	bone

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