Variant report

Variant	rs12316011
Chromosome Location	chr12:47053862-47053863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46775880..46778772-chr12:47053263..47055840,3	MCF-7	breast:
2	chr12:46831691..46833742-chr12:47051403..47054145,2	K562	blood:
3	chr12:46759450..46767729-chr12:47050364..47062392,28	MCF-7	breast:
4	chr12:46885416..46887111-chr12:47052344..47054021,2	MCF-7	breast:
5	chr12:46760654..46769647-chr12:47051646..47061944,32	MCF-7	breast:
6	chr12:46757823..46760512-chr12:47053505..47055776,2	K562	blood:
7	chr12:47053397..47056382-chr12:47060303..47062102,2	MCF-7	breast:
8	chr12:46762091..46766718-chr12:47051293..47055848,8	K562	blood:
9	chr12:46745913..46748762-chr12:47052132..47055018,2	K562	blood:
10	chr12:46764217..46768302-chr12:47052891..47055832,5	K562	blood:
11	chr12:46776215..46777851-chr12:47053337..47055678,2	K562	blood:
12	chr12:46754872..46757316-chr12:47052968..47055309,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11183557	0.98[AFR][1000 genomes]
rs12299524	0.87[AFR][1000 genomes]
rs12300875	0.87[AFR][1000 genomes]
rs12308056	0.98[AFR][1000 genomes]
rs12310253	0.82[AFR][1000 genomes]
rs12312764	1.00[AFR][1000 genomes]
rs12314549	0.94[AFR][1000 genomes]
rs12315703	0.98[AFR][1000 genomes]
rs12318292	0.82[AFR][1000 genomes]
rs12319714	0.82[AFR][1000 genomes]
rs12320094	0.87[AFR][1000 genomes]
rs1946173	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs235614	0.88[AFR][1000 genomes]
rs235615	0.88[AFR][1000 genomes]
rs235620	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs235623	0.80[YRI][hapmap]
rs2543342	0.81[AFR][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	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
2	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
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47041000-47054200	Weak transcription	Fetal Kidney	kidney
2	chr12:47042200-47054800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:47046400-47069800	Weak transcription	Pancreas	Pancrea
4	chr12:47046800-47057000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:47050800-47055000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:47050800-47056000	Enhancers	NHLF	lung
7	chr12:47051000-47055000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:47051000-47056200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:47051200-47055000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:47051400-47054600	Enhancers	A549	lung
11	chr12:47051400-47055600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:47051400-47055800	Enhancers	Fetal Heart	heart
13	chr12:47051400-47055800	Enhancers	HSMM	muscle
14	chr12:47051400-47056200	Enhancers	HUVEC	blood vessel
15	chr12:47051400-47059800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:47051600-47055600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:47051800-47054200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:47051800-47055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:47051800-47055400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:47051800-47056000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:47051800-47056000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:47052000-47054200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:47052000-47054400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:47052200-47054600	Weak transcription	K562	blood
25	chr12:47052200-47055000	Weak transcription	Placenta	Placenta
26	chr12:47052200-47055600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:47052400-47055600	Enhancers	Primary T cells from cord blood	blood
28	chr12:47052600-47054200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:47052600-47054200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr12:47052600-47055400	Enhancers	Fetal Stomach	stomach
31	chr12:47052600-47056000	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:47052800-47054000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr12:47052800-47055200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:47052800-47055400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:47052800-47055400	Enhancers	Fetal Muscle Leg	muscle
36	chr12:47053000-47054000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr12:47053000-47054000	Active TSS	Right Atrium	heart
38	chr12:47053000-47054400	Enhancers	Psoas Muscle	Psoas
39	chr12:47053000-47055000	Enhancers	Fetal Thymus	thymus
40	chr12:47053000-47055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr12:47053000-47055200	Enhancers	Small Intestine	intestine
42	chr12:47053000-47055800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:47053200-47054000	Enhancers	Primary T cells fromperipheralblood	blood
44	chr12:47053200-47054000	Flanking Active TSS	Dnd41	blood
45	chr12:47053200-47054400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:47053200-47054400	Weak transcription	HepG2	liver
47	chr12:47053200-47055000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:47053200-47055200	Enhancers	GM12878-XiMat	blood
49	chr12:47053200-47055400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr12:47053200-47055600	Enhancers	Primary B cells from peripheral blood	blood

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