Variant report

Variant	rs13448
Chromosome Location	chr11:46695414-46695415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46693318..46696713-chr11:46720751..46722986,3	MCF-7	breast:
2	chr11:46690029..46694256-chr11:46694840..46696988,3	K562	blood:
3	chr11:46619474..46621047-chr11:46695380..46697232,2	K562	blood:

Variant related genes	Relation type
ENSG00000175220	Chromatin interaction
ENSG00000175213	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1007738	0.86[GIH][hapmap]
rs10734548	0.84[GIH][hapmap]
rs10769205	0.88[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs10769211	0.86[GIH][hapmap]
rs11038906	0.91[YRI][hapmap]
rs11039014	0.86[GIH][hapmap]
rs12274785	0.85[EUR][1000 genomes]
rs12361673	0.88[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs1551744	0.86[GIH][hapmap]
rs2070852	0.88[CEU][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs2282686	0.82[EUR][1000 genomes]
rs2902858	0.91[LWK][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap]
rs35623865	0.90[LWK][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap]
rs4606447	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752929	0.84[EUR][1000 genomes]
rs57804402	0.84[EUR][1000 genomes]
rs6485696	0.92[GIH][hapmap]
rs7101374	0.86[GIH][hapmap]
rs7107778	0.84[GIH][hapmap]
rs7109698	0.91[LWK][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs7122039	0.90[LWK][hapmap];0.94[MKK][hapmap];0.90[YRI][hapmap]
rs7127529	0.93[LWK][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap]
rs7481312	0.81[YRI][hapmap]
rs7484002	0.81[YRI][hapmap]
rs7929294	0.84[GIH][hapmap]
rs7932354	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs9704782	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46652200-46695600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46667200-46695600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
4	chr11:46667400-46696000	Strong transcription	Fetal Brain Female	brain
5	chr11:46670600-46695600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:46671400-46696000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:46671400-46696000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:46677400-46695800	Strong transcription	Rectal Smooth Muscle	rectum
9	chr11:46679400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:46682800-46695600	Strong transcription	Hela-S3	cervix
11	chr11:46683600-46695600	Strong transcription	HepG2	liver
12	chr11:46685200-46695600	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr11:46685400-46695800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:46685400-46695800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:46686200-46696000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:46688800-46695600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:46689200-46696600	Strong transcription	Fetal Stomach	stomach
18	chr11:46689400-46695800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:46689600-46695600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:46689600-46695800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:46689800-46696000	Strong transcription	Aorta	Aorta
23	chr11:46690000-46696400	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr11:46690800-46696200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:46691200-46695600	Weak transcription	Small Intestine	intestine
26	chr11:46691200-46695800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr11:46691400-46696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:46691400-46698800	Genic enhancers	Fetal Thymus	thymus
29	chr11:46691400-46699000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:46691600-46695600	Strong transcription	Brain Cingulate Gyrus	brain
31	chr11:46691600-46696000	Weak transcription	Fetal Heart	heart
32	chr11:46691600-46705600	Weak transcription	Fetal Brain Male	brain
33	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
34	chr11:46691800-46699200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:46692200-46695600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:46692200-46695800	Strong transcription	Brain Hippocampus Middle	brain
37	chr11:46692200-46696400	Genic enhancers	Placenta	Placenta
38	chr11:46692600-46695600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:46692600-46695800	Genic enhancers	Duodenum Mucosa	Duodenum
40	chr11:46692600-46699000	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr11:46692800-46695800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:46692800-46696400	Weak transcription	Psoas Muscle	Psoas
43	chr11:46693000-46695800	Weak transcription	Fetal Kidney	kidney
44	chr11:46693200-46695800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:46693200-46697200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:46693200-46700200	Weak transcription	GM12878-XiMat	blood
47	chr11:46693400-46695600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:46693400-46695800	Genic enhancers	Primary hematopoietic stem cells	blood
49	chr11:46693400-46695800	Strong transcription	NHLF	lung
50	chr11:46693400-46696000	Genic enhancers	Primary T cells fromperipheralblood	blood

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