Variant report

Variant	rs2000205
Chromosome Location	chr6:73821239-73821240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73414426..73415387-chr6:73821209..73822009,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1111877	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418411	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1578674	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883374	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16883411	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1891404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935533	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1935534	0.84[ASN][1000 genomes]
rs1935535	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1935536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051025	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2350390	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2350750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2796042	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796043	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796046	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2796047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2796049	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2796050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2796051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2797087	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4084853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4708029	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708031	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4708032	0.87[ASN][1000 genomes]
rs4708034	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4708035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs6453635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs6453636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs6453641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6453643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6907117	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6925506	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933648	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743974	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776143	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293921	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9343005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs947613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73791000-73830600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:73813000-73830200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:73814600-73830200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:73814800-73831200	Weak transcription	HSMM	muscle
5	chr6:73815200-73839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:73816200-73822400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73816600-73831000	Weak transcription	HSMMtube	muscle
8	chr6:73817200-73822200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:73818000-73846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:73819800-73830200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:73819800-73830600	Weak transcription	HMEC	breast
12	chr6:73820800-73830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:73821000-73821400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:73821000-73821400	Enhancers	Aorta	Aorta
15	chr6:73821000-73821600	Strong transcription	Primary T cells from cord blood	blood
16	chr6:73821000-73821800	Strong transcription	Primary B cells from cord blood	blood
17	chr6:73821000-73849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:73821200-73821800	Genic enhancers	Fetal Heart	heart

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