Variant report

Variant	rs1414799
Chromosome Location	chr9:26888546-26888547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr9:26888372-26888689	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:26888503-26888949	MCF10A-Er-Src	breast:	n/a	n/a
3	SPI1	chr9:26888473-26888897	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:26886474..26888568-chr9:26890678..26892880,3	MCF-7	breast:
2	chr9:26884245..26886305-chr9:26888073..26890557,2	K562	blood:
3	chr9:26888414..26890276-chr9:26890319..26892503,2	MCF-7	breast:

Variant related genes	Relation type
CAAP1	TF binding region
ENSG00000120159	Chromatin interaction

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

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

rs_ID	r²[population]
rs10812483	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10812484	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967568	0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967579	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967582	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10967584	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12004912	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12335922	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12336610	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12337566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12338827	0.99[AFR][1000 genomes]
rs12342214	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12343057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12343845	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12343965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12344019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12344293	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345417	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12345714	0.92[AFR][1000 genomes]
rs12346378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12351014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12351117	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12351187	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12352229	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12352731	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12352777	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12353080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12353172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16910832	0.82[AFR][1000 genomes]
rs16910834	0.83[AFR][1000 genomes]
rs7023459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7025993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7026496	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7029328	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7035029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7039799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7851035	0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9775714	1.00[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	nsv1026827	chr9:26693515-26904699	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26822200-26889400	Weak transcription	Psoas Muscle	Psoas
2	chr9:26834200-26891200	Weak transcription	NHDF-Ad	bronchial
3	chr9:26836600-26891400	Weak transcription	Brain Substantia Nigra	brain
4	chr9:26851800-26888600	Weak transcription	Fetal Heart	heart
5	chr9:26851800-26891600	Weak transcription	Stomach Mucosa	stomach
6	chr9:26857600-26891000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:26859800-26890000	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:26878200-26888600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr9:26882600-26891000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr9:26882800-26890000	Weak transcription	Left Ventricle	heart
11	chr9:26882800-26890800	Weak transcription	HMEC	breast
12	chr9:26882800-26891000	Weak transcription	Aorta	Aorta
13	chr9:26882800-26891200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:26882800-26891400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:26882800-26891600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:26882800-26891800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:26882800-26892000	Weak transcription	Lung	lung
18	chr9:26883000-26889400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:26883000-26891600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:26883000-26891600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:26883000-26891600	Weak transcription	Small Intestine	intestine
22	chr9:26883200-26891000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:26883200-26892200	Weak transcription	Spleen	Spleen
24	chr9:26883400-26889000	Weak transcription	Pancreas	Pancrea
25	chr9:26883400-26889200	Weak transcription	Fetal Intestine Small	intestine
26	chr9:26883400-26889600	Weak transcription	Ovary	ovary
27	chr9:26883400-26890000	Weak transcription	Gastric	stomach
28	chr9:26883400-26890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr9:26883400-26890800	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:26883400-26890800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:26883400-26890800	Weak transcription	Right Ventricle	heart
32	chr9:26883400-26891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:26883400-26891000	Weak transcription	Brain Angular Gyrus	brain
34	chr9:26883400-26891000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:26883400-26891000	Weak transcription	Fetal Stomach	stomach
36	chr9:26883400-26891000	Weak transcription	Thymus	Thymus
37	chr9:26883400-26891000	Weak transcription	NHEK	skin
38	chr9:26883400-26891200	Weak transcription	Adipose Nuclei	Adipose
39	chr9:26883400-26891800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:26883400-26892200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:26883600-26890200	Weak transcription	Fetal Brain Male	brain
42	chr9:26883600-26891000	Weak transcription	Brain Germinal Matrix	brain
43	chr9:26883600-26891000	Weak transcription	Fetal Lung	lung
44	chr9:26883600-26891000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr9:26883600-26891400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:26883600-26891600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:26883600-26891600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr9:26884000-26890400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr9:26884000-26890800	Weak transcription	Colonic Mucosa	Colon
50	chr9:26884000-26891000	Weak transcription	Stomach Smooth Muscle	stomach

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