Variant report

Variant	rs62134681
Chromosome Location	chr2:54802397-54802398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54782556..54791633-chr2:54796824..54803982,19	MCF-7	breast:
2	chr2:54800900..54802569-chr2:54811910..54813598,2	K562	blood:
3	chr2:54799809..54803669-chr2:54884381..54886305,3	MCF-7	breast:
4	chr2:54796760..54799671-chr2:54800450..54802770,2	K562	blood:
5	chr2:54795805..54798083-chr2:54801150..54802782,2	MCF-7	breast:
6	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10166797	0.80[ASN][1000 genomes]
rs1047465	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2229506	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2941592	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3796013	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4426562	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60113783	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62134669	0.81[AMR][1000 genomes]
rs62134670	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62134673	0.81[AMR][1000 genomes]
rs62134676	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62134679	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62134680	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62134684	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62134700	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62134701	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62134705	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62134706	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62134707	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62134708	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs907136	0.84[AMR][1000 genomes];0.92[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	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
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54794400-54804200	Weak transcription	Ovary	ovary
2	chr2:54795600-54802400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr2:54795800-54802400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:54795800-54803000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr2:54795800-54803200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr2:54795800-54803400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:54795800-54807000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:54795800-54807600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:54796000-54802400	Enhancers	Brain Hippocampus Middle	brain
10	chr2:54796000-54802600	Enhancers	HMEC	breast
11	chr2:54796000-54802800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:54796000-54804400	Enhancers	Adipose Nuclei	Adipose
13	chr2:54796000-54807600	Enhancers	Brain Angular Gyrus	brain
14	chr2:54796200-54806200	Enhancers	Right Atrium	heart
15	chr2:54796200-54806400	Enhancers	Brain Anterior Caudate	brain
16	chr2:54796200-54806800	Enhancers	Pancreas	Pancrea
17	chr2:54796400-54803600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:54796400-54808800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:54796800-54802800	Enhancers	K562	blood
20	chr2:54796800-54803200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:54796800-54806800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr2:54796800-54807400	Enhancers	Psoas Muscle	Psoas
23	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
25	chr2:54797200-54805000	Enhancers	Spleen	Spleen
26	chr2:54797400-54808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:54797800-54802600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:54797800-54807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:54798600-54802400	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:54798600-54805600	Enhancers	NHDF-Ad	bronchial
31	chr2:54798800-54803000	Enhancers	Osteobl	bone
32	chr2:54798800-54806400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:54798800-54806600	Weak transcription	Fetal Brain Male	brain
34	chr2:54799200-54803000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:54799200-54803600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:54799400-54805000	Enhancers	Left Ventricle	heart
37	chr2:54799600-54803600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:54799800-54803000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:54800000-54802400	Enhancers	Lung	lung
40	chr2:54800000-54803600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:54800000-54803800	Enhancers	Fetal Heart	heart
42	chr2:54800000-54807400	Enhancers	Right Ventricle	heart
43	chr2:54800200-54802600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:54800200-54802800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:54800200-54803600	Enhancers	Fetal Intestine Small	intestine
46	chr2:54800200-54803800	Enhancers	Fetal Intestine Large	intestine
47	chr2:54800200-54805800	Enhancers	NHLF	lung
48	chr2:54800200-54806400	Enhancers	Stomach Mucosa	stomach
49	chr2:54800400-54802600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:54800400-54803000	Enhancers	Stomach Smooth Muscle	stomach

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