Variant report

Variant	rs1032417
Chromosome Location	chr12:62645486-62645487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62644671..62646971-chr2:11681286..11684261,2	MCF-7	breast:
2	chr12:62629680..62631494-chr12:62645421..62647480,2	MCF-7	breast:
3	chr12:62627821..62629929-chr12:62644318..62645957,2	K562	blood:
4	chr12:62644506..62646961-chr12:62653542..62655633,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000135655	Chromatin interaction
ENSG00000258316	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10431566	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10732749	0.93[AMR][1000 genomes]
rs10784290	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10784291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11174432	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1376341	0.81[CEU][hapmap]
rs1512024	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1901238	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2122659	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2131437	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2167286	0.93[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4763167	0.80[CEU][hapmap]
rs7135737	0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7312416	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7312513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7315790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7953445	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7956101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7970898	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7974980	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62638000-62650000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:62641800-62646200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:62641800-62647800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:62643400-62651200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:62643600-62652800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:62644200-62645800	Enhancers	Primary B cells from cord blood	blood
7	chr12:62644200-62646000	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:62644200-62646800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:62644400-62645600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:62644400-62646000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:62644400-62646000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:62644600-62645600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:62644600-62645600	Enhancers	Small Intestine	intestine
14	chr12:62644600-62645800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:62644600-62646000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:62644600-62646000	Enhancers	Liver	Liver
17	chr12:62644600-62646000	Flanking Active TSS	GM12878-XiMat	blood
18	chr12:62644600-62646200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:62644600-62646200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:62644600-62646200	Enhancers	Ovary	ovary
21	chr12:62644600-62646400	Enhancers	Placenta	Placenta
22	chr12:62644800-62645600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:62644800-62645600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:62644800-62645800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:62644800-62645800	Enhancers	Dnd41	blood
26	chr12:62644800-62653000	Weak transcription	Left Ventricle	heart
27	chr12:62645000-62650200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:62645000-62653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:62645200-62645600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:62645200-62645600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr12:62645200-62645600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:62645200-62645600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:62645200-62645800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:62645200-62645800	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:62645200-62645800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:62645200-62646000	Enhancers	Adipose Nuclei	Adipose
37	chr12:62645200-62646200	Enhancers	K562	blood
38	chr12:62645200-62646600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:62645200-62652000	Weak transcription	Fetal Kidney	kidney
40	chr12:62645200-62653200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:62645400-62646000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:62645400-62646200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:62645400-62646200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:62645400-62650000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:62645400-62650200	Weak transcription	HMEC	breast
46	chr12:62645400-62650400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:62645400-62652600	Weak transcription	NHEK	skin
48	chr12:62645400-62652800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:62645400-62652800	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links