Variant report

Variant	rs7005205
Chromosome Location	chr8:54605641-54605642
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	chr8:54147248..54149206-chr8:54604109..54606269,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1075106	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13259308	0.83[EUR][1000 genomes]
rs1552149	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6983168	0.82[EUR][1000 genomes]
rs6983482	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6988008	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7002636	0.86[EUR][1000 genomes]
rs7008117	0.89[EUR][1000 genomes]
rs720263	0.85[EUR][1000 genomes]
rs7828363	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7841871	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv890919	chr8:54521248-54607336	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv890920	chr8:54559770-54626539	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54604800-54605800	Enhancers	Fetal Heart	heart
2	chr8:54604800-54606200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:54605000-54606000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr8:54605200-54605800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr8:54605200-54605800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:54605200-54606000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr8:54605200-54606000	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:54605200-54606200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:54605400-54605800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:54605400-54605800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
11	chr8:54605400-54605800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:54605400-54605800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:54605400-54605800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:54605400-54605800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:54605400-54605800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:54605400-54605800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:54605400-54605800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:54605400-54605800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:54605400-54605800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:54605400-54605800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr8:54605400-54605800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr8:54605400-54605800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:54605400-54605800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:54605400-54605800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:54605400-54605800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:54605400-54605800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:54605400-54605800	Active TSS	Duodenum Mucosa	Duodenum
28	chr8:54605400-54605800	Flanking Active TSS	Esophagus	oesophagus
29	chr8:54605400-54605800	Active TSS	Fetal Brain Female	brain
30	chr8:54605400-54605800	Active TSS	Fetal Intestine Large	intestine
31	chr8:54605400-54605800	Active TSS	Fetal Kidney	kidney
32	chr8:54605400-54605800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr8:54605400-54605800	Flanking Active TSS	Fetal Stomach	stomach
34	chr8:54605400-54605800	Enhancers	Fetal Thymus	thymus
35	chr8:54605400-54605800	Flanking Active TSS	Left Ventricle	heart
36	chr8:54605400-54605800	Active TSS	Ovary	ovary
37	chr8:54605400-54605800	Flanking Active TSS	Pancreas	Pancrea
38	chr8:54605400-54605800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr8:54605400-54605800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr8:54605400-54605800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr8:54605400-54605800	Enhancers	Small Intestine	intestine
42	chr8:54605400-54605800	Enhancers	Stomach Mucosa	stomach
43	chr8:54605400-54605800	Enhancers	HMEC	breast
44	chr8:54605400-54606000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:54605400-54606000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:54605400-54606000	Enhancers	Primary B cells from peripheral blood	blood
47	chr8:54605400-54606000	Active TSS	Primary T cells from cord blood	blood
48	chr8:54605400-54606000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:54605400-54606000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:54605400-54606000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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