Variant report

Variant	rs72681183
Chromosome Location	chr8:103370529-103370530
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	chr8:103366477..103368542-chr8:103369939..103372415,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10505022	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505025	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10505027	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434675	0.87[EUR][1000 genomes]
rs17511370	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17512186	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297255	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4130534	0.83[ASN][1000 genomes]
rs4489304	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56096838	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56111669	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152628	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56371583	0.83[ASN][1000 genomes]
rs6468830	0.83[ASN][1000 genomes]
rs72681171	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72681179	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681190	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72681191	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681196	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681200	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681202	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
10	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
4	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:103345400-103372000	Weak transcription	Small Intestine	intestine
9	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
10	chr8:103346400-103373200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:103347400-103373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:103348000-103373400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:103353800-103373000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:103354000-103378400	Weak transcription	Fetal Brain Male	brain
15	chr8:103355000-103371000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:103355000-103379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:103355000-103379400	Weak transcription	Psoas Muscle	Psoas
18	chr8:103355000-103379600	Weak transcription	Right Ventricle	heart
19	chr8:103355000-103380600	Weak transcription	Brain Angular Gyrus	brain
20	chr8:103355400-103373600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:103356600-103373200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:103357400-103372200	Strong transcription	GM12878-XiMat	blood
23	chr8:103357800-103371200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr8:103359200-103371200	Weak transcription	Fetal Kidney	kidney
25	chr8:103359200-103374600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:103359400-103371000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:103359400-103375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:103359800-103371000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:103359800-103371000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:103359800-103377800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:103359800-103379400	Weak transcription	Pancreas	Pancrea
32	chr8:103359800-103380600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:103360000-103371400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:103360200-103379600	Weak transcription	Spleen	Spleen
35	chr8:103360400-103380600	Weak transcription	Esophagus	oesophagus
36	chr8:103361000-103373400	Strong transcription	Placenta	Placenta
37	chr8:103361200-103372200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:103361400-103372000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:103361400-103373200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:103361600-103371200	Weak transcription	Brain Anterior Caudate	brain
41	chr8:103361600-103371400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:103361600-103372600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:103361600-103377400	Weak transcription	Colon Smooth Muscle	Colon
44	chr8:103362000-103373800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr8:103362200-103371000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:103362200-103373400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr8:103362200-103373600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:103362200-103379200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:103362400-103371200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:103363000-103373400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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