Variant report

Variant	rs12295608
Chromosome Location	chr11:46419411-46419412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46413333..46415363-chr11:46417315..46419574,2	MCF-7	breast:
2	chr11:46419265..46420850-chr11:46421932..46424415,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11038894	0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280028	1.00[ASW][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12280656	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1873130	0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56977210	0.85[AFR][1000 genomes]
rs6485680	0.91[ASW][hapmap];0.85[LWK][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73466034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467915	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7946094	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1050614	chr11:46414720-46496732	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46413000-46425000	Weak transcription	Fetal Heart	heart
2	chr11:46414200-46429000	Weak transcription	Hela-S3	cervix
3	chr11:46414200-46432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:46414600-46425800	Weak transcription	HSMM	muscle
5	chr11:46414600-46429200	Weak transcription	HMEC	breast
6	chr11:46414800-46424200	Weak transcription	Right Atrium	heart
7	chr11:46414800-46424600	Weak transcription	Psoas Muscle	Psoas
8	chr11:46414800-46426200	Weak transcription	NH-A	brain
9	chr11:46414800-46428600	Weak transcription	A549	lung
10	chr11:46414800-46429200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:46414800-46436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:46415000-46424800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:46415000-46428800	Weak transcription	Stomach Mucosa	stomach
14	chr11:46415000-46429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:46415000-46429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:46415000-46432800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:46415200-46424400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:46415200-46424600	Weak transcription	Fetal Kidney	kidney
19	chr11:46415200-46426000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:46415200-46426800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:46415200-46430600	Weak transcription	K562	blood
22	chr11:46415400-46423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:46416200-46429000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:46416200-46429800	Weak transcription	HUVEC	blood vessel
25	chr11:46416400-46428400	Weak transcription	Small Intestine	intestine
26	chr11:46416400-46429200	Weak transcription	NHDF-Ad	bronchial
27	chr11:46416800-46419800	Strong transcription	Brain Germinal Matrix	brain
28	chr11:46416800-46419800	Strong transcription	Fetal Intestine Large	intestine
29	chr11:46416800-46420000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:46416800-46420200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:46417000-46421800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:46417000-46421800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:46417000-46424600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:46417000-46435800	Strong transcription	Fetal Intestine Small	intestine
35	chr11:46417000-46444400	Strong transcription	Fetal Stomach	stomach
36	chr11:46417200-46420000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:46417200-46420000	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:46417200-46439600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:46417400-46419600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:46417400-46419800	Strong transcription	Adipose Nuclei	Adipose
41	chr11:46417400-46419800	Strong transcription	Gastric	stomach
42	chr11:46417400-46419800	Strong transcription	Left Ventricle	heart
43	chr11:46417400-46419800	Strong transcription	Spleen	Spleen
44	chr11:46417400-46420000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:46417400-46420000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr11:46417400-46420000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:46417400-46420000	Strong transcription	Brain Angular Gyrus	brain
48	chr11:46417400-46420000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:46417400-46420000	Strong transcription	Brain Substantia Nigra	brain
50	chr11:46417400-46420000	Strong transcription	Colonic Mucosa	Colon

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