Variant report

Variant	rs12273234
Chromosome Location	chr11:73052540-73052541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73045859..73047367-chr11:73050454..73052611,2	MCF-7	breast:
2	chr11:73052088..73053863-chr11:73088723..73090410,2	K562	blood:
3	chr11:73051469..73053504-chr11:73055523..73058425,3	MCF-7	breast:
4	chr11:73050857..73052738-chr11:73086451..73088096,2	MCF-7	breast:
5	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
6	chr11:73051653..73053765-chr11:73094533..73097113,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1107037	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107038	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107039	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235716	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235718	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826797	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272360	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279235	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290082	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293779	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310347	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938776	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938779	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017066	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887105	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664562	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55669228	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732055	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	1.00[ASN][1000 genomes]
rs55921075	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55980420	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012762	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140159	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184513	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334857	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[ASN][1000 genomes]
rs56665358	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56775065	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59127043	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61749197	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542448	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542460	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941389	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874456	0.89[EUR][1000 genomes];1.00[ASN][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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73044800-73053000	Weak transcription	Aorta	Aorta
2	chr11:73045800-73053400	Weak transcription	Pancreas	Pancrea
3	chr11:73046400-73052800	Weak transcription	Brain Germinal Matrix	brain
4	chr11:73046400-73052800	Weak transcription	Lung	lung
5	chr11:73046400-73053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73046400-73053200	Weak transcription	Gastric	stomach
7	chr11:73046400-73053400	Weak transcription	Brain Substantia Nigra	brain
8	chr11:73046600-73053000	Weak transcription	Right Atrium	heart
9	chr11:73046600-73053400	Weak transcription	Colonic Mucosa	Colon
10	chr11:73046600-73053400	Weak transcription	Fetal Brain Male	brain
11	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
14	chr11:73046600-73075400	Weak transcription	A549	lung
15	chr11:73046800-73053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:73047000-73052800	Weak transcription	Liver	Liver
17	chr11:73047000-73053000	Strong transcription	Fetal Stomach	stomach
18	chr11:73047000-73053200	Weak transcription	Fetal Brain Female	brain
19	chr11:73047000-73053200	Strong transcription	Fetal Intestine Small	intestine
20	chr11:73047000-73053200	Weak transcription	HSMM	muscle
21	chr11:73047000-73053400	Weak transcription	Fetal Kidney	kidney
22	chr11:73047000-73053600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:73047000-73053600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73047200-73052600	Weak transcription	Fetal Heart	heart
26	chr11:73047200-73053400	Weak transcription	Fetal Lung	lung
27	chr11:73047200-73053400	Weak transcription	HUVEC	blood vessel
28	chr11:73047200-73053600	Weak transcription	NH-A	brain
29	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:73048000-73052600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:73048000-73052800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:73049000-73053400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:73049200-73053400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:73049200-73053400	Weak transcription	Fetal Intestine Large	intestine
36	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:73049600-73053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:73049600-73053200	Weak transcription	Adipose Nuclei	Adipose
39	chr11:73049800-73053400	Weak transcription	Ovary	ovary
40	chr11:73050000-73053000	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:73050600-73053400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:73050600-73053600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:73051000-73053000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:73051200-73052800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:73051200-73053200	Enhancers	Spleen	Spleen
46	chr11:73051200-73053600	Enhancers	Left Ventricle	heart
47	chr11:73051200-73053800	Strong transcription	HepG2	liver
48	chr11:73051400-73052800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:73051400-73053000	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:73051400-73055400	Weak transcription	HMEC	breast

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