Variant report

Variant	rs11014306
Chromosome Location	chr10:25224462-25224463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:25216805..25220140-chr10:25223845..25226604,5	K562	blood:
2	chr10:25193196..25195482-chr10:25223203..25225910,2	MCF-7	breast:
3	chr10:25221015..25224598-chr10:25305476..25310606,4	K562	blood:
4	chr10:24931563..24932371-chr10:25223975..25224936,3	MCF-7	breast:
5	chr10:25217615..25220140-chr10:25224103..25226604,2	K562	blood:

Variant related genes	Relation type
ENSG00000185875	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11014307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11014309	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12255703	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12256206	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1409306	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925145	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4504964	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59201594	0.91[ASN][1000 genomes]
rs60294805	0.91[ASN][1000 genomes]
rs60347372	0.91[ASN][1000 genomes]
rs61645903	0.91[ASN][1000 genomes]
rs6482453	0.82[CEU][hapmap]
rs6482454	0.82[EUR][1000 genomes]
rs6482455	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7072126	0.81[CEU][hapmap]
rs7078660	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7084900	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7087994	0.82[CEU][hapmap]
rs73606590	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7910241	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7918015	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[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	nsv1053278	chr10:25140776-25269093	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolite levels (Pyroglutamine)	23934736	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25191600-25240600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:25198200-25228000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:25210400-25236600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:25210600-25233400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:25210600-25233400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:25211400-25239800	Weak transcription	Fetal Kidney	kidney
7	chr10:25212400-25224800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:25215800-25240000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:25218600-25233400	Weak transcription	NHLF	lung
10	chr10:25218800-25236600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:25219000-25227000	Weak transcription	Aorta	Aorta
12	chr10:25219000-25236600	Weak transcription	Ovary	ovary
13	chr10:25219200-25227200	Weak transcription	Brain Angular Gyrus	brain
14	chr10:25219200-25227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:25219200-25233600	Weak transcription	NHDF-Ad	bronchial
16	chr10:25219200-25240000	Weak transcription	Dnd41	blood
17	chr10:25219600-25227200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:25219600-25227400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:25219800-25225000	Weak transcription	Brain Hippocampus Middle	brain
20	chr10:25219800-25233200	Weak transcription	A549	lung
21	chr10:25221400-25233800	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:25222800-25226200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:25223200-25225400	Enhancers	Fetal Intestine Large	intestine
24	chr10:25223400-25224600	Strong transcription	Fetal Brain Female	brain
25	chr10:25223400-25225200	Enhancers	Fetal Intestine Small	intestine
26	chr10:25223400-25226200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:25223400-25226200	Strong transcription	Fetal Lung	lung
28	chr10:25223400-25226400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:25223600-25224600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:25223600-25233400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:25223800-25224600	Weak transcription	Gastric	stomach
32	chr10:25223800-25225400	Enhancers	Duodenum Mucosa	Duodenum
33	chr10:25223800-25225600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:25223800-25227400	Weak transcription	K562	blood
35	chr10:25224000-25225600	Strong transcription	Brain Anterior Caudate	brain
36	chr10:25224200-25226000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:25224200-25226400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:25224200-25236400	Weak transcription	Brain Germinal Matrix	brain
39	chr10:25224400-25225000	Strong transcription	Brain Substantia Nigra	brain
40	chr10:25224400-25225200	Enhancers	Stomach Mucosa	stomach
41	chr10:25224400-25225800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr10:25224400-25225800	Strong transcription	Fetal Muscle Leg	muscle
43	chr10:25224400-25225800	Strong transcription	Fetal Stomach	stomach
44	chr10:25224400-25233400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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