Variant report

Variant	rs2297494
Chromosome Location	chr10:45432386-45432387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45426234..45427990-chr10:45429968..45432449,2	K562	blood:
2	chr10:45429768..45432549-chr10:45433306..45435637,3	MCF-7	breast:
3	chr10:45430656..45433137-chr10:45453264..45455350,2	K562	blood:

Variant related genes	Relation type
ENSG00000187783	Chromatin interaction
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11593043	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11596745	0.97[ASN][1000 genomes]
rs11597898	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1332628	1.00[JPT][hapmap]
rs2297493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740088	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740089	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61854007	0.95[ASN][1000 genomes]
rs61854008	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7078924	0.97[ASN][1000 genomes]
rs72780643	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72780645	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872208	0.87[MEX][hapmap];0.83[TSI][hapmap]
rs949607	1.00[JPT][hapmap]
rs952956	1.00[JPT][hapmap]

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	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	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
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
2	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
3	chr10:45427800-45432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:45427800-45432400	Enhancers	Right Ventricle	heart
5	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
6	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
7	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
8	chr10:45428000-45432400	Enhancers	Brain Anterior Caudate	brain
9	chr10:45428000-45432600	Enhancers	Brain Cingulate Gyrus	brain
10	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
12	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
13	chr10:45428000-45433400	Enhancers	Placenta	Placenta
14	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr10:45428400-45436800	Enhancers	HepG2	liver
16	chr10:45428800-45433000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:45428800-45435400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:45429000-45432600	Enhancers	Right Atrium	heart
19	chr10:45429200-45432400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr10:45429200-45432600	Enhancers	Fetal Muscle Trunk	muscle
21	chr10:45429800-45433200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:45430000-45432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:45430000-45433400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:45430200-45432400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr10:45430200-45432600	Enhancers	HSMM	muscle
26	chr10:45430400-45432600	Enhancers	Primary hematopoietic stem cells	blood
27	chr10:45430600-45432400	Enhancers	Dnd41	blood
28	chr10:45430600-45433000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:45430600-45433000	Enhancers	Brain Substantia Nigra	brain
30	chr10:45430800-45432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:45431000-45432400	Enhancers	Thymus	Thymus
32	chr10:45431000-45432400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr10:45431200-45433400	Enhancers	Brain Hippocampus Middle	brain
34	chr10:45431200-45453200	Weak transcription	Gastric	stomach
35	chr10:45431400-45435800	Weak transcription	Liver	Liver
36	chr10:45431600-45434000	Weak transcription	Colonic Mucosa	Colon
37	chr10:45431600-45436000	Weak transcription	Stomach Mucosa	stomach
38	chr10:45431800-45433000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr10:45432000-45432400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:45432000-45432400	Weak transcription	NHDF-Ad	bronchial
41	chr10:45432000-45433000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr10:45432000-45434600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr10:45432200-45433000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:45432200-45433200	Weak transcription	Left Ventricle	heart
45	chr10:45432200-45434400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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