Variant report

Variant	rs7818094
Chromosome Location	chr8:48544581-48544582
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	chr8:48544030..48546745-chr8:48645753..48648082,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs16930142	0.92[AFR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	1.00[AMR][1000 genomes]
rs57210767	1.00[AMR][1000 genomes]
rs57274985	1.00[AMR][1000 genomes]
rs57659543	1.00[AMR][1000 genomes]
rs58572522	1.00[AMR][1000 genomes]
rs58592579	1.00[AMR][1000 genomes]
rs58965290	1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	1.00[AMR][1000 genomes]
rs59402950	1.00[AMR][1000 genomes]
rs59422998	1.00[AMR][1000 genomes]
rs60256648	1.00[AMR][1000 genomes]
rs60573041	0.90[AFR][1000 genomes]
rs61376238	1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	1.00[AMR][1000 genomes]
rs73565236	1.00[AMR][1000 genomes]
rs73565244	1.00[AMR][1000 genomes]
rs73565247	1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565260	1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	1.00[AMR][1000 genomes]
rs73565273	1.00[AMR][1000 genomes]
rs73565275	1.00[AMR][1000 genomes]
rs73565280	1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	1.00[AMR][1000 genomes]
rs73565299	1.00[AMR][1000 genomes]
rs73567507	1.00[AMR][1000 genomes]
rs73567511	1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	1.00[AMR][1000 genomes]
rs73567594	1.00[AMR][1000 genomes]
rs73567596	1.00[AMR][1000 genomes]
rs73567597	1.00[AMR][1000 genomes]
rs73569205	1.00[AMR][1000 genomes]
rs73569208	1.00[AMR][1000 genomes]
rs73569212	1.00[AMR][1000 genomes]
rs73569216	1.00[AMR][1000 genomes]
rs73569220	1.00[AMR][1000 genomes]
rs73569223	1.00[AMR][1000 genomes]
rs73569224	1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	1.00[AMR][1000 genomes]
rs73571454	1.00[AMR][1000 genomes]
rs73571459	1.00[AMR][1000 genomes]
rs73571460	1.00[AMR][1000 genomes]
rs73571462	1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	1.00[AMR][1000 genomes]
rs73571469	1.00[AMR][1000 genomes]
rs7463108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs751786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178070	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
2	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
4	chr8:48523200-48545400	Weak transcription	Spleen	Spleen
5	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:48535200-48547200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:48535600-48554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:48535800-48554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:48540400-48545200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:48540400-48545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:48540400-48545400	Weak transcription	Lung	lung
13	chr8:48540600-48544800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:48540600-48556600	Weak transcription	Right Ventricle	heart
15	chr8:48540800-48556000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:48541000-48545400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:48541000-48545400	Weak transcription	Osteobl	bone
18	chr8:48541000-48550200	Weak transcription	Fetal Heart	heart
19	chr8:48541000-48554400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr8:48541200-48556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:48541600-48556600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:48541800-48545600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:48542800-48544600	Enhancers	Fetal Intestine Small	intestine
24	chr8:48542800-48546600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:48542800-48546600	Enhancers	Fetal Muscle Leg	muscle
26	chr8:48542800-48546600	Enhancers	Placenta	Placenta
27	chr8:48543000-48545000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:48543000-48545400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:48543000-48545400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:48543000-48546600	Enhancers	Adipose Nuclei	Adipose
31	chr8:48543200-48544600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:48543200-48546200	Enhancers	Brain Hippocampus Middle	brain
33	chr8:48543200-48546400	Enhancers	Brain Substantia Nigra	brain
34	chr8:48543200-48546400	Enhancers	HSMM	muscle
35	chr8:48543200-48546600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:48543400-48544600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr8:48543400-48545400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:48543400-48546000	Enhancers	Brain Angular Gyrus	brain
39	chr8:48543600-48544600	Enhancers	Fetal Lung	lung
40	chr8:48543600-48545800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:48543600-48545800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:48543600-48546000	Enhancers	Stomach Smooth Muscle	stomach
43	chr8:48543600-48546000	Enhancers	NHDF-Ad	bronchial
44	chr8:48543600-48546400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:48543600-48546600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:48543600-48546800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:48543600-48556000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:48543800-48544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:48543800-48544800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:48543800-48544800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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