Variant report

Variant	rs62140273
Chromosome Location	chr2:54725613-54725614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54433434..54434357-chr2:54725307..54725819,2	MCF-7	breast:
2	chr2:54716343..54718706-chr2:54724549..54726688,2	MCF-7	breast:
3	chr2:54719586..54722384-chr2:54724826..54727546,2	K562	blood:
4	chr2:54715431..54717877-chr2:54722811..54726356,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11892709	1.00[ASN][1000 genomes]
rs17045859	1.00[ASN][1000 genomes]
rs17045866	1.00[ASN][1000 genomes]
rs2931462	1.00[ASN][1000 genomes]
rs2941593	1.00[ASN][1000 genomes]
rs2941594	1.00[ASN][1000 genomes]
rs62140272	1.00[ASN][1000 genomes]
rs62140299	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518406	chr2:54723271-54761329	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:54716000-54730000	Weak transcription	NH-A	brain
10	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
11	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
12	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
13	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:54719000-54725800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
18	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
20	chr2:54719800-54728200	Weak transcription	Gastric	stomach
21	chr2:54721200-54726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:54721600-54726200	Weak transcription	NHLF	lung
23	chr2:54722000-54726600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:54722600-54726400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:54722600-54728200	Weak transcription	Spleen	Spleen
26	chr2:54723400-54725800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:54723800-54727200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:54723800-54727200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:54723800-54732600	Enhancers	Fetal Heart	heart
30	chr2:54723800-54733000	Enhancers	Adipose Nuclei	Adipose
31	chr2:54724000-54726200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:54724000-54726400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:54724000-54726800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:54724000-54728600	Enhancers	HepG2	liver
35	chr2:54724000-54731400	Enhancers	Colon Smooth Muscle	Colon
36	chr2:54724200-54726400	Enhancers	Right Ventricle	heart
37	chr2:54724200-54726800	Enhancers	Fetal Stomach	stomach
38	chr2:54724200-54729600	Enhancers	Fetal Muscle Leg	muscle
39	chr2:54724200-54732800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:54724200-54732800	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:54724400-54727000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:54724400-54732800	Enhancers	Brain Hippocampus Middle	brain
43	chr2:54724600-54726000	Enhancers	Liver	Liver
44	chr2:54724600-54726200	Genic enhancers	Fetal Lung	lung
45	chr2:54724600-54726400	Enhancers	Left Ventricle	heart
46	chr2:54724600-54726600	Enhancers	Fetal Kidney	kidney
47	chr2:54724600-54726800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:54724600-54732800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:54724800-54726400	Enhancers	Right Atrium	heart
50	chr2:54724800-54726800	Enhancers	H1 Cell Line	embryonic stem cell

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