Variant report

Variant	rs10180584
Chromosome Location	chr2:40469095-40469096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11124737	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4581943	0.92[ASN][1000 genomes]
rs4952599	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56410612	0.98[ASN][1000 genomes]
rs6716847	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6737759	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593406	0.87[ASN][1000 genomes]
rs7602176	0.92[ASN][1000 genomes]
rs877099	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008190	chr2:40429442-40506772	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking 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	3 gene(s)	inside rSNPs	diseases
6	nsv524586	chr2:40447587-40497501	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873912	chr2:40468418-40492315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40448000-40487400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:40451400-40490000	Weak transcription	Dnd41	blood
3	chr2:40453800-40471000	Weak transcription	Right Ventricle	heart
4	chr2:40453800-40471400	Weak transcription	Right Atrium	heart
5	chr2:40465800-40469600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:40467600-40469200	Weak transcription	Psoas Muscle	Psoas
7	chr2:40467600-40469400	Weak transcription	Brain Germinal Matrix	brain
8	chr2:40467600-40471000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:40467800-40487400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:40468000-40469400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:40468000-40469400	Weak transcription	HSMMtube	muscle
12	chr2:40468000-40469600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:40468000-40469800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:40468000-40470200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:40468000-40470200	Weak transcription	NH-A	brain
16	chr2:40468000-40470400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:40468000-40470400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:40468000-40470400	Weak transcription	HSMM	muscle
19	chr2:40468000-40470400	Weak transcription	NHLF	lung
20	chr2:40468000-40470600	Weak transcription	Fetal Stomach	stomach
21	chr2:40468000-40470800	Weak transcription	Left Ventricle	heart
22	chr2:40468000-40470800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:40468000-40471000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:40468000-40471200	Weak transcription	Colonic Mucosa	Colon
25	chr2:40468000-40472000	Weak transcription	Fetal Lung	lung
26	chr2:40468000-40476600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:40468200-40469600	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:40468200-40469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:40468200-40470000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:40468200-40470200	Weak transcription	Osteobl	bone
31	chr2:40468200-40470400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:40468200-40470600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:40468200-40471000	Weak transcription	Adipose Nuclei	Adipose
34	chr2:40468600-40470000	Weak transcription	NHDF-Ad	bronchial
35	chr2:40468600-40472000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:40468800-40469800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:40468800-40471200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:40468800-40472600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:40469000-40471400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:40469000-40472200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:40469000-40475200	Enhancers	Fetal Heart	heart

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