Variant report

Variant	rs28549049
Chromosome Location	chr8:8655748-8655749
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	chr8:8655376..8657753-chr8:8661368..8663526,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10087950	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090997	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091646	1.00[ASN][1000 genomes]
rs10092552	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10093805	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094026	1.00[ASN][1000 genomes]
rs10096881	0.81[EUR][1000 genomes]
rs10099757	1.00[ASN][1000 genomes]
rs10102732	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10103502	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10105070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109078	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112354	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503390	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986392	0.81[EUR][1000 genomes]
rs11992051	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154792	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28404896	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447349	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478802	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28481744	1.00[ASN][1000 genomes]
rs28513197	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521483	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28581487	1.00[ASN][1000 genomes]
rs28698264	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28702056	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28823269	1.00[ASN][1000 genomes]
rs28870140	1.00[ASN][1000 genomes]
rs28886957	1.00[ASN][1000 genomes]
rs55736184	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56091524	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218435	1.00[ASN][1000 genomes]
rs66876829	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014389	1.00[ASN][1000 genomes]
rs73184206	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73184207	0.86[AMR][1000 genomes]
rs73198291	1.00[ASN][1000 genomes]
rs73198299	1.00[ASN][1000 genomes]
rs73200025	1.00[ASN][1000 genomes]
rs73201845	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73201853	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839324	1.00[ASN][1000 genomes]
rs9329168	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329170	1.00[ASN][1000 genomes]
rs9650614	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1019606	chr8:8353661-8736992	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539456	chr8:8353661-8736992	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1022511	chr8:8493992-8737132	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv539457	chr8:8493992-8737132	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	esv1824870	chr8:8583943-8699382	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	nsv610189	chr8:8590437-8664940	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8637600-8679800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:8642800-8660000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:8646600-8658000	Weak transcription	Pancreas	Pancrea
4	chr8:8648600-8658000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:8649200-8657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:8649200-8657200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:8649200-8657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:8649200-8666400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:8649400-8657800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:8649400-8661800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:8649400-8663600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:8649400-8663800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:8649600-8657800	Weak transcription	Stomach Mucosa	stomach
14	chr8:8650600-8656000	Strong transcription	Dnd41	blood
15	chr8:8650800-8663400	Weak transcription	Hela-S3	cervix
16	chr8:8651200-8656200	Weak transcription	Esophagus	oesophagus
17	chr8:8651200-8657800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:8651600-8658000	Weak transcription	Aorta	Aorta
19	chr8:8651800-8657800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:8652600-8659200	Weak transcription	Ovary	ovary
21	chr8:8653800-8656800	Weak transcription	NHEK	skin
22	chr8:8653800-8657000	Weak transcription	Fetal Heart	heart
23	chr8:8653800-8657200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:8653800-8657200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:8653800-8657400	Weak transcription	Liver	Liver
26	chr8:8653800-8657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:8653800-8657400	Weak transcription	Lung	lung
28	chr8:8653800-8657800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:8653800-8662000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:8653800-8662600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:8653800-8663400	Weak transcription	HMEC	breast
32	chr8:8653800-8674800	Weak transcription	Brain Germinal Matrix	brain
33	chr8:8654000-8657000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:8654000-8657200	Weak transcription	Gastric	stomach
35	chr8:8654000-8657600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:8654000-8657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:8654000-8658000	Weak transcription	Fetal Intestine Large	intestine
38	chr8:8654000-8659400	Weak transcription	HepG2	liver
39	chr8:8654000-8663600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:8654000-8666800	Weak transcription	NHDF-Ad	bronchial
41	chr8:8654000-8666800	Weak transcription	NHLF	lung
42	chr8:8654000-8671000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:8654200-8658000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr8:8654600-8655800	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:8654600-8655800	Enhancers	HUVEC	blood vessel
46	chr8:8654600-8656000	Enhancers	Brain Hippocampus Middle	brain
47	chr8:8654800-8655800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr8:8654800-8655800	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:8654800-8655800	Enhancers	Brain Substantia Nigra	brain
50	chr8:8654800-8656000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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