Variant report

Variant	rs12311102
Chromosome Location	chr12:32722589-32722590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32722186..32723857-chr12:32727379..32729028,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11052074	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11052075	0.81[ASN][1000 genomes]
rs12308526	1.00[AMR][1000 genomes]
rs12312715	0.88[ASN][1000 genomes]
rs12316266	1.00[AMR][1000 genomes]
rs1875058	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1979825	1.00[EUR][1000 genomes]
rs73305543	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv973958	chr12:32712509-32726963	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32693000-32729600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:32711800-32724800	Weak transcription	Fetal Brain Male	brain
3	chr12:32712600-32738600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:32713000-32780400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:32713400-32796200	Weak transcription	Fetal Lung	lung
6	chr12:32713800-32738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:32714000-32740600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:32715200-32735000	Weak transcription	Placenta	Placenta
9	chr12:32715200-32753800	Weak transcription	Fetal Brain Female	brain
10	chr12:32715200-32760200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:32715400-32730600	Weak transcription	Fetal Stomach	stomach
12	chr12:32717000-32723000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:32717000-32723000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:32717000-32723600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:32718200-32722600	Enhancers	Brain Angular Gyrus	brain
16	chr12:32718200-32722800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:32718400-32722600	Enhancers	Stomach Mucosa	stomach
18	chr12:32718600-32722600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:32718600-32722600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:32718800-32722600	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:32719000-32722600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr12:32719000-32723000	Enhancers	NHEK	skin
23	chr12:32719400-32722600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:32719400-32722600	Enhancers	NH-A	brain
25	chr12:32719400-32723000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:32719400-32723000	Enhancers	HMEC	breast
27	chr12:32719600-32722600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:32719600-32722600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:32719600-32722600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:32719600-32722600	Enhancers	Adipose Nuclei	Adipose
31	chr12:32719600-32722600	Enhancers	NHDF-Ad	bronchial
32	chr12:32719800-32722600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr12:32719800-32722600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:32719800-32722600	Enhancers	Hela-S3	cervix
35	chr12:32719800-32722600	Enhancers	HSMM	muscle
36	chr12:32719800-32741400	Weak transcription	Spleen	Spleen
37	chr12:32720000-32722600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:32720000-32728000	Weak transcription	Liver	Liver
39	chr12:32720000-32764800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:32720200-32722600	Enhancers	Small Intestine	intestine
41	chr12:32720200-32722800	Enhancers	Brain Hippocampus Middle	brain
42	chr12:32720200-32778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr12:32720400-32722600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:32720400-32722600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:32720400-32723000	Enhancers	Brain Substantia Nigra	brain
46	chr12:32720400-32723600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:32720400-32729000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:32720400-32732200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr12:32720600-32722800	Enhancers	A549	lung
50	chr12:32720600-32729200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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