Variant report

Variant	rs7304481
Chromosome Location	chr12:45659823-45659824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45655142..45658052-chr12:45658399..45661222,2	MCF-7	breast:
2	chr12:45577100..45578744-chr12:45658727..45661444,2	MCF-7	breast:
3	chr12:45654342..45656870-chr12:45658694..45660838,2	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1015626	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10437984	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10459295	0.82[CEU][hapmap]
rs10748412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785557	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10785561	0.98[AFR][1000 genomes]
rs10785566	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs10880755	0.87[ASW][hapmap];0.86[JPT][hapmap]
rs10880760	0.83[ASN][1000 genomes]
rs10880761	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10880762	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10880763	0.93[ASN][1000 genomes]
rs10880764	0.94[ASW][hapmap];0.95[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.80[MEX][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10880765	0.82[CEU][hapmap]
rs10880766	0.82[CEU][hapmap]
rs10880771	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs11182905	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11182908	0.81[AMR][1000 genomes]
rs11182913	0.81[ASN][1000 genomes]
rs11182918	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182936	0.93[ASN][1000 genomes]
rs11182938	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11182939	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11182944	0.92[ASN][1000 genomes]
rs11182946	0.92[ASN][1000 genomes]
rs11182949	0.95[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11182953	0.89[EUR][1000 genomes]
rs11182954	0.82[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11182955	0.82[CEU][hapmap];0.89[EUR][1000 genomes]
rs11182957	0.82[CEU][hapmap]
rs11182961	0.82[CEU][hapmap]
rs11182965	0.82[CEU][hapmap]
rs11182981	0.82[CEU][hapmap]
rs11614082	0.82[CEU][hapmap]
rs12230322	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12231753	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12320168	0.87[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12815334	0.89[EUR][1000 genomes]
rs12815577	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815723	0.89[EUR][1000 genomes]
rs12818421	0.87[EUR][1000 genomes]
rs1399721	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1913692	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2012937	0.83[ASN][1000 genomes]
rs2052602	0.92[ASN][1000 genomes]
rs2052603	0.95[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2408184	0.91[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs35660715	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3759080	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4326862	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4768085	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768598	0.83[ASN][1000 genomes]
rs4768601	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs57560057	0.89[EUR][1000 genomes]
rs58444879	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7136368	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7138247	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.84[ASN][1000 genomes]
rs7138983	0.93[ASN][1000 genomes]
rs728590	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7307262	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs7309615	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7310046	0.83[ASN][1000 genomes]
rs7963038	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7963057	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7965430	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs7971900	0.86[JPT][hapmap]
rs9739519	0.91[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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:45651200-45662000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:45651400-45662000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:45651400-45662400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45651600-45662000	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:45651600-45662400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:45651600-45667000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:45651600-45667400	Weak transcription	Brain Substantia Nigra	brain
10	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:45653800-45662000	Weak transcription	Esophagus	oesophagus
12	chr12:45654200-45662000	Weak transcription	Right Ventricle	heart
13	chr12:45654200-45662000	Weak transcription	Spleen	Spleen
14	chr12:45654200-45662400	Weak transcription	Gastric	stomach
15	chr12:45654200-45666800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:45654400-45661800	Weak transcription	A549	lung
17	chr12:45654400-45662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:45654400-45662000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:45654400-45662000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:45654400-45662000	Weak transcription	Osteobl	bone
21	chr12:45654400-45662400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:45654400-45662400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:45654400-45662400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:45654400-45662400	Weak transcription	Fetal Stomach	stomach
25	chr12:45654400-45662400	Weak transcription	HSMM	muscle
26	chr12:45654400-45662400	Weak transcription	NH-A	brain
27	chr12:45654400-45662400	Weak transcription	NHLF	lung
28	chr12:45654400-45662600	Weak transcription	Stomach Mucosa	stomach
29	chr12:45654400-45666600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:45654400-45667600	Weak transcription	Primary T cells from cord blood	blood
31	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:45654600-45660800	Weak transcription	NHEK	skin
33	chr12:45654800-45661200	Weak transcription	HMEC	breast
34	chr12:45654800-45662000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:45655000-45660400	Weak transcription	HUVEC	blood vessel
36	chr12:45655000-45662000	Weak transcription	Lung	lung
37	chr12:45655600-45660400	Weak transcription	Fetal Lung	lung
38	chr12:45655600-45661000	Weak transcription	Hela-S3	cervix
39	chr12:45655800-45661800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:45656000-45662000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:45656600-45661000	Enhancers	Fetal Heart	heart
42	chr12:45656800-45660800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:45656800-45662400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:45657200-45662000	Weak transcription	Thymus	Thymus
45	chr12:45657400-45661800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:45657600-45661400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:45657600-45662000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:45657600-45662000	Weak transcription	Psoas Muscle	Psoas
49	chr12:45657800-45662000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:45657800-45662200	Weak transcription	Duodenum Mucosa	Duodenum

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