Variant report

Variant	rs11183463
Chromosome Location	chr12:46794069-46794070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46660196..46664289-chr12:46793162..46796060,3	MCF-7	breast:
2	chr12:46787652..46790315-chr12:46793888..46796934,3	K562	blood:
3	chr12:46793862..46797366-chr12:46798440..46803120,6	MCF-7	breast:
4	chr12:46759584..46762474-chr12:46794055..46796996,3	K562	blood:
5	chr12:46786302..46788286-chr12:46793724..46796369,2	MCF-7	breast:
6	chr12:46775685..46777322-chr12:46793673..46795917,2	K562	blood:
7	chr12:46789348..46792000-chr12:46793237..46794849,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000111371	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11183462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183485	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11183489	0.94[EUR][1000 genomes]
rs12298393	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12303084	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12307205	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9971651	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46778800-46797200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
3	chr12:46781600-46795400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:46781800-46795000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:46782000-46794600	Weak transcription	Fetal Kidney	kidney
6	chr12:46782000-46794600	Weak transcription	Placenta	Placenta
7	chr12:46782000-46794600	Weak transcription	Psoas Muscle	Psoas
8	chr12:46782800-46796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:46783000-46794200	Weak transcription	Thymus	Thymus
10	chr12:46783200-46795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:46783200-46796200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:46783200-46796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:46783200-46796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:46783400-46794600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:46783400-46795000	Weak transcription	Fetal Heart	heart
16	chr12:46783400-46795400	Weak transcription	HSMM	muscle
17	chr12:46783400-46796200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:46785000-46796200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:46785200-46794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:46785200-46795000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:46785200-46796000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:46785400-46795200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:46785600-46794400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:46785600-46796600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:46785800-46796600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:46786600-46796000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:46786800-46794200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:46786800-46794200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:46786800-46794200	Weak transcription	Fetal Thymus	thymus
30	chr12:46786800-46794200	Weak transcription	Osteobl	bone
31	chr12:46786800-46794400	Weak transcription	NHDF-Ad	bronchial
32	chr12:46787000-46795200	Weak transcription	Fetal Lung	lung
33	chr12:46787000-46795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:46787000-46798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:46787200-46794400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:46787400-46795600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:46787800-46798200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:46788400-46794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:46789200-46795400	Weak transcription	Fetal Brain Male	brain
40	chr12:46789600-46794400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr12:46789600-46795200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:46789600-46796800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:46789800-46794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:46789800-46797600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:46790000-46794600	Weak transcription	Fetal Stomach	stomach
46	chr12:46790000-46795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:46790200-46796600	Weak transcription	Primary B cells from cord blood	blood
48	chr12:46791000-46795400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:46791000-46796800	Weak transcription	Ovary	ovary
50	chr12:46791400-46795400	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links