Variant report

Variant	rs12285064
Chromosome Location	chr11:34496618-34496619
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	chr11:34378189..34380818-chr11:34495580..34497533,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11032656	0.92[EUR][1000 genomes]
rs11032672	0.94[EUR][1000 genomes]
rs11032702	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107573	0.97[EUR][1000 genomes]
rs12269988	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273124	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275712	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288793	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293745	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295136	0.97[EUR][1000 genomes]
rs16925514	0.97[EUR][1000 genomes]
rs17883208	0.89[EUR][1000 genomes]
rs17884086	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057513	0.86[AFR][1000 genomes]
rs57360584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58817388	0.97[EUR][1000 genomes]
rs59468184	0.97[EUR][1000 genomes]
rs7114869	0.97[EUR][1000 genomes]
rs7121907	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125892	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73436768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926613	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282626	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
2	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:34483400-34501600	Weak transcription	HMEC	breast
4	chr11:34487800-34497000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:34489400-34496800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:34489600-34496800	Strong transcription	Adipose Nuclei	Adipose
7	chr11:34490200-34497000	Strong transcription	Primary T cells from cord blood	blood
8	chr11:34491000-34497200	Weak transcription	HUVEC	blood vessel
9	chr11:34491000-34501800	Weak transcription	Psoas Muscle	Psoas
10	chr11:34491200-34497000	Weak transcription	A549	lung
11	chr11:34492000-34498400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:34493000-34497800	Weak transcription	Small Intestine	intestine
13	chr11:34493000-34498200	Weak transcription	Esophagus	oesophagus
14	chr11:34493200-34497800	Weak transcription	Dnd41	blood
15	chr11:34493200-34497800	Weak transcription	NHLF	lung
16	chr11:34493200-34498000	Weak transcription	Right Ventricle	heart
17	chr11:34493400-34497200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:34494000-34498000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:34494000-34498000	Weak transcription	NHDF-Ad	bronchial
20	chr11:34494000-34498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:34494000-34498400	Weak transcription	Osteobl	bone
22	chr11:34494000-34499400	Weak transcription	HepG2	liver
23	chr11:34494000-34501800	Weak transcription	HSMM	muscle
24	chr11:34494200-34497200	Weak transcription	Brain Germinal Matrix	brain
25	chr11:34494200-34497800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:34494200-34499400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:34494400-34496800	Weak transcription	Spleen	Spleen
28	chr11:34494400-34497400	Weak transcription	GM12878-XiMat	blood
29	chr11:34494400-34497600	Weak transcription	K562	blood
30	chr11:34494400-34497800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:34494400-34498000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:34494400-34498200	Weak transcription	Brain Anterior Caudate	brain
33	chr11:34494400-34498200	Weak transcription	Gastric	stomach
34	chr11:34494400-34498200	Weak transcription	Pancreas	Pancrea
35	chr11:34494400-34498400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:34494400-34498600	Weak transcription	Fetal Intestine Large	intestine
37	chr11:34494400-34501400	Weak transcription	Fetal Kidney	kidney
38	chr11:34494600-34496800	Weak transcription	Brain Substantia Nigra	brain
39	chr11:34494600-34497000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:34494600-34498200	Weak transcription	Placenta	Placenta
41	chr11:34494600-34498400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:34494800-34497200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:34494800-34498000	Weak transcription	Fetal Intestine Small	intestine
44	chr11:34495000-34496800	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:34495000-34496800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:34495000-34497600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:34495000-34497600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:34495000-34498000	Weak transcription	Brain Angular Gyrus	brain
49	chr11:34495200-34496800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:34495200-34496800	Weak transcription	Fetal Brain Female	brain

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