Variant report

Variant	rs72869645
Chromosome Location	chr1:9702062-9702063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9687124..9688740-chr1:9701648..9703981,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61412539	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869651	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869654	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869655	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869660	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869669	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7553125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9690400-9709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:9691400-9704000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:9693600-9703000	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr1:9697400-9711400	Weak transcription	Esophagus	oesophagus
5	chr1:9697800-9711400	Weak transcription	Right Atrium	heart
6	chr1:9698200-9708000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:9699600-9702800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:9699800-9702200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:9699800-9702800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:9700000-9702200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:9700000-9702200	Strong transcription	Dnd41	blood
12	chr1:9700000-9703000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:9700000-9703000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:9700200-9702200	Genic enhancers	Primary T cells from cord blood	blood
15	chr1:9700200-9702400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:9701200-9703200	Weak transcription	Spleen	Spleen
17	chr1:9701400-9702200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:9701400-9702200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:9701400-9702200	Strong transcription	Thymus	Thymus
20	chr1:9701400-9703600	Weak transcription	GM12878-XiMat	blood
21	chr1:9701600-9702200	Strong transcription	Primary B cells from cord blood	blood
22	chr1:9701600-9702200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr1:9701600-9702800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:9701800-9703800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr1:9702000-9702800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:9702000-9702800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:9702000-9703000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:9702000-9703000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:9702000-9703000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:9702000-9703000	Weak transcription	Fetal Thymus	thymus
31	chr1:9702000-9703200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:9702000-9703200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:9702000-9703600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:9702000-9703800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:9702000-9711400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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