Variant report

Variant	rs12311952
Chromosome Location	chr12:46947333-46947334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46765496..46768188-chr12:46945105..46947805,2	K562	blood:
2	chr12:46941171..46945201-chr12:46945236..46949422,7	K562	blood:
3	chr12:46947119..46948871-chr12:46950791..46952995,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11183519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12301825	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes]
rs12318944	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12579010	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12579419	0.80[AMR][1000 genomes]
rs12579984	0.84[AMR][1000 genomes]
rs12580176	0.82[AMR][1000 genomes]
rs12581743	0.84[AMR][1000 genomes]
rs17097079	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17097091	0.85[YRI][hapmap];0.84[AMR][1000 genomes]
rs1946174	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1986154	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2160892	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2408616	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4351902	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4768124	1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes]
rs4768126	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768738	0.84[ASN][1000 genomes]
rs4768740	0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs57616927	0.84[AMR][1000 genomes]
rs58806862	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59408501	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7132144	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7133051	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7297406	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7310614	0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs7311414	0.85[AMR][1000 genomes]
rs7315740	0.85[AMR][1000 genomes]
rs73282105	0.85[AMR][1000 genomes]
rs73282110	0.85[AMR][1000 genomes]
rs7487359	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes]
rs7487705	0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs7959179	0.80[ASN][1000 genomes]
rs7976531	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7976785	0.93[AMR][1000 genomes];0.86[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	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
2	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
3	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
4	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
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:46940200-46950400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:46940200-46955000	Enhancers	HMEC	breast
4	chr12:46940600-46953600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:46941000-46949200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:46941400-46956200	Weak transcription	Primary B cells from cord blood	blood
7	chr12:46942600-46948200	Weak transcription	Adipose Nuclei	Adipose
8	chr12:46942800-46949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:46943800-46948600	Weak transcription	Fetal Heart	heart
10	chr12:46943800-46948800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:46944000-46948600	Enhancers	NHEK	skin
12	chr12:46944200-46949400	Enhancers	Hela-S3	cervix
13	chr12:46944200-46949600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:46945400-46949200	Weak transcription	K562	blood
15	chr12:46946200-46948200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:46946400-46949400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:46946400-46949400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:46946400-46949400	Enhancers	NHLF	lung
19	chr12:46946600-46947600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:46946600-46948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:46946600-46949200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:46946600-46949600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:46946600-46949600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:46946800-46947400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:46946800-46947400	Enhancers	Placenta	Placenta
26	chr12:46946800-46947400	Flanking Active TSS	A549	lung
27	chr12:46946800-46947600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:46946800-46947600	Enhancers	HUVEC	blood vessel
29	chr12:46946800-46949200	Enhancers	Osteobl	bone
30	chr12:46947000-46947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:46947000-46947400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:46947000-46947400	Enhancers	Fetal Muscle Leg	muscle
33	chr12:46947000-46947400	Enhancers	Psoas Muscle	Psoas
34	chr12:46947000-46947600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:46947000-46947600	Enhancers	NH-A	brain
36	chr12:46947000-46948000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:46947000-46949400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:46947000-46949400	Enhancers	HSMM	muscle
39	chr12:46947000-46949400	Enhancers	HSMMtube	muscle
40	chr12:46947000-46950000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:46947200-46947400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:46947200-46947400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:46947200-46947400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:46947200-46947400	Enhancers	Colon Smooth Muscle	Colon
45	chr12:46947200-46947600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr12:46947200-46950000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:46947200-46956000	Weak transcription	Left Ventricle	heart

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