Variant report

Variant	rs7487705
Chromosome Location	chr12:46857929-46857930
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46856551..46858642-chr12:46884704..46886633,2	MCF-7	breast:
2	chr12:46852729..46855589-chr12:46856810..46858940,4	MCF-7	breast:
3	chr12:46854831..46858483-chr12:46859173..46862265,4	MCF-7	breast:
4	chr12:46857414..46859341-chr12:46861249..46864836,4	K562	blood:
5	chr12:46851276..46855951-chr12:46856514..46861457,9	K562	blood:
6	chr12:46764825..46767515-chr12:46854638..46860372,7	MCF-7	breast:
7	chr12:46763112..46768883-chr12:46857331..46862698,8	K562	blood:
8	chr12:46857526..46859603-chr12:46866422..46869181,2	MCF-7	breast:
9	chr12:46852229..46855814-chr12:46857217..46861777,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11183519	0.86[YRI][hapmap];0.91[AMR][1000 genomes]
rs12301825	0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12311952	0.81[YRI][hapmap];0.85[AMR][1000 genomes]
rs12318944	0.91[AMR][1000 genomes]
rs17097091	0.84[YRI][hapmap]
rs1946174	0.87[AMR][1000 genomes]
rs4768124	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59408501	0.91[AMR][1000 genomes]
rs7132144	0.93[AMR][1000 genomes]
rs7136117	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7297406	0.89[AMR][1000 genomes]
rs7487359	0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7976785	0.81[AFR][1000 genomes];0.93[AMR][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	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46866000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:46850000-46860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:46850600-46859200	Weak transcription	Stomach Mucosa	stomach
5	chr12:46853200-46867400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:46853800-46858600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:46853800-46862600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:46854000-46858400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:46854200-46860800	Weak transcription	HUVEC	blood vessel
10	chr12:46854800-46859200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:46854800-46864000	Weak transcription	Spleen	Spleen
12	chr12:46854800-46866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:46855000-46859200	Weak transcription	Liver	Liver
14	chr12:46855000-46860200	Weak transcription	GM12878-XiMat	blood
15	chr12:46855000-46863800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:46855400-46858800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:46855400-46863600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:46855400-46863800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:46855600-46859000	Weak transcription	HepG2	liver
20	chr12:46855600-46859200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:46855600-46859200	Weak transcription	K562	blood
22	chr12:46855600-46863400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:46855800-46864000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:46856000-46859200	Weak transcription	Fetal Intestine Small	intestine
25	chr12:46856000-46864000	Weak transcription	Right Ventricle	heart
26	chr12:46856000-46864800	Weak transcription	Small Intestine	intestine
27	chr12:46856000-46867800	Weak transcription	Aorta	Aorta
28	chr12:46856200-46859800	Weak transcription	Psoas Muscle	Psoas
29	chr12:46856200-46862000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:46856200-46866000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:46856200-46866200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:46856200-46868200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr12:46856600-46867400	Weak transcription	Placenta	Placenta
34	chr12:46857000-46860200	Weak transcription	Left Ventricle	heart
35	chr12:46857000-46864000	Weak transcription	NHDF-Ad	bronchial
36	chr12:46857200-46861400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:46857200-46861400	Weak transcription	Fetal Heart	heart
38	chr12:46857400-46859200	Weak transcription	Right Atrium	heart
39	chr12:46857600-46859200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:46857600-46860200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:46857800-46864800	Weak transcription	Ovary	ovary

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