Variant report

Variant	rs6593454
Chromosome Location	chr10:45504012-45504013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45495644..45497300-chr10:45502585..45504465,2	MCF-7	breast:
2	chr10:45501761..45504279-chr10:45755487..45758024,2	K562	blood:
3	chr10:45428166..45428769-chr10:45503894..45504435,2	MCF-7	breast:
4	chr10:45470718..45473140-chr10:45500575..45504463,3	K562	blood:

Variant related genes	Relation type
ENSG00000165511	Chromatin interaction
ENSG00000165512	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10047345	0.85[EUR][1000 genomes]
rs11239310	0.96[EUR][1000 genomes]
rs11239337	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs11494	0.96[EUR][1000 genomes]
rs12257275	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12264627	0.96[EUR][1000 genomes]
rs17157327	0.98[EUR][1000 genomes]
rs17157328	0.98[EUR][1000 genomes]
rs2095088	0.81[EUR][1000 genomes]
rs2104898	0.94[EUR][1000 genomes]
rs4573635	0.96[EUR][1000 genomes]
rs56259997	0.96[EUR][1000 genomes]
rs57046651	0.96[EUR][1000 genomes]
rs59085162	0.96[EUR][1000 genomes]
rs60581169	0.96[EUR][1000 genomes]
rs61183370	0.92[EUR][1000 genomes]
rs7080655	0.98[EUR][1000 genomes]
rs7095202	0.85[EUR][1000 genomes]
rs72782417	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73283471	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7902918	0.94[EUR][1000 genomes]
rs7915377	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7918953	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831848	chr10:45490176-45667670	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45497000-45511000	Weak transcription	Gastric	stomach
2	chr10:45499400-45511000	Weak transcription	Pancreas	Pancrea
3	chr10:45500400-45510400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr10:45501000-45505200	Weak transcription	Small Intestine	intestine
5	chr10:45503000-45504200	Enhancers	Fetal Heart	heart
6	chr10:45503200-45504200	Enhancers	HepG2	liver
7	chr10:45503400-45504200	Enhancers	Rectal Smooth Muscle	rectum
8	chr10:45503600-45504200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr10:45503600-45504200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr10:45503800-45504200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:45503800-45504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:45503800-45504200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:45503800-45504200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:45503800-45504200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr10:45503800-45504200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:45503800-45504200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr10:45503800-45504200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:45503800-45504200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:45503800-45504200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:45503800-45504200	Enhancers	Brain Anterior Caudate	brain
21	chr10:45503800-45504200	Enhancers	Brain Cingulate Gyrus	brain
22	chr10:45503800-45504200	Enhancers	Brain Hippocampus Middle	brain
23	chr10:45503800-45504200	Enhancers	Brain Substantia Nigra	brain
24	chr10:45503800-45504200	Enhancers	Colon Smooth Muscle	Colon
25	chr10:45503800-45504200	Enhancers	Duodenum Mucosa	Duodenum
26	chr10:45503800-45504200	Enhancers	Fetal Intestine Large	intestine
27	chr10:45503800-45504200	Enhancers	Fetal Lung	lung
28	chr10:45503800-45504200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr10:45503800-45504200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr10:45503800-45504200	Enhancers	Dnd41	blood
31	chr10:45503800-45504200	Enhancers	HSMM	muscle
32	chr10:45503800-45504200	Enhancers	NHDF-Ad	bronchial
33	chr10:45503800-45504200	Enhancers	Osteobl	bone
34	chr10:45503800-45504400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr10:45503800-45504400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr10:45503800-45504400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:45503800-45504400	Enhancers	Adipose Nuclei	Adipose
38	chr10:45503800-45504600	Enhancers	HUVEC	blood vessel
39	chr10:45504000-45504200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr10:45504000-45504200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr10:45504000-45504200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:45504000-45504200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr10:45504000-45504200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr10:45504000-45504200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr10:45504000-45504200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:45504000-45504200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:45504000-45504200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:45504000-45504200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr10:45504000-45504200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr10:45504000-45504200	Enhancers	Primary monocytes fromperipheralblood	blood

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