Variant report

Variant	rs62250977
Chromosome Location	chr3:69836592-69836593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69826342..69828033-chr3:69835897..69837657,2	MCF-7	breast:
2	chr3:69820056..69823613-chr3:69833464..69836716,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11128143	0.88[ASN][1000 genomes]
rs12714757	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367369	0.87[ASN][1000 genomes]
rs17006419	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17043851	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2114660	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2116000	0.86[ASN][1000 genomes]
rs28378222	0.87[ASN][1000 genomes]
rs28613540	0.87[ASN][1000 genomes]
rs4855323	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4855447	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4855448	0.88[ASN][1000 genomes]
rs55947901	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56286049	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56386221	0.84[AMR][1000 genomes]
rs57078287	0.84[AMR][1000 genomes]
rs57537586	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58244283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58529025	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60551165	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60843510	0.84[AMR][1000 genomes]
rs62250970	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62250976	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62250978	0.96[EUR][1000 genomes]
rs6762369	0.86[ASN][1000 genomes]
rs6772383	0.84[AMR][1000 genomes]
rs6786207	0.86[ASN][1000 genomes]
rs6786226	0.86[ASN][1000 genomes]
rs7648607	0.87[ASN][1000 genomes]
rs9834743	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3507784	chr3:69802539-69959607	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3507785	chr3:69802539-69959607	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009045	chr3:69821621-69875782	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69824000-69837000	Weak transcription	Lung	lung
2	chr3:69827400-69839200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr3:69828400-69836600	Enhancers	Fetal Heart	heart
4	chr3:69833200-69837200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:69833200-69837200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:69833200-69837200	Enhancers	NHLF	lung
7	chr3:69833200-69838000	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:69833400-69837200	Enhancers	NHDF-Ad	bronchial
9	chr3:69833600-69837200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:69833800-69836800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr3:69833800-69837200	Enhancers	Fetal Lung	lung
12	chr3:69833800-69837200	Enhancers	Hela-S3	cervix
13	chr3:69833800-69837200	Enhancers	NHEK	skin
14	chr3:69834000-69836600	Enhancers	Ovary	ovary
15	chr3:69834000-69836600	Enhancers	Psoas Muscle	Psoas
16	chr3:69834000-69837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:69834000-69837200	Enhancers	Adipose Nuclei	Adipose
18	chr3:69834200-69837200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:69834200-69837200	Enhancers	HSMM	muscle
20	chr3:69834400-69836600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:69834600-69839800	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:69834600-69840400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:69834800-69836600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:69834800-69837200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:69834800-69837200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:69834800-69837200	Enhancers	K562	blood
27	chr3:69834800-69839800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:69834800-69840200	Weak transcription	Brain Anterior Caudate	brain
29	chr3:69835000-69837000	Enhancers	Colon Smooth Muscle	Colon
30	chr3:69835000-69840000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:69835000-69840400	Weak transcription	Fetal Thymus	thymus
32	chr3:69835200-69839800	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:69835200-69840200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:69835400-69840600	Weak transcription	Brain Angular Gyrus	brain
35	chr3:69835600-69836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:69835600-69840800	Weak transcription	Left Ventricle	heart
37	chr3:69835600-69840800	Weak transcription	Right Ventricle	heart
38	chr3:69835800-69836600	Enhancers	NH-A	brain
39	chr3:69836000-69836600	Enhancers	Aorta	Aorta
40	chr3:69836000-69836800	Flanking Active TSS	HSMMtube	muscle
41	chr3:69836000-69837200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:69836000-69837200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:69836000-69837200	Enhancers	HUVEC	blood vessel
44	chr3:69836000-69837200	Enhancers	Osteobl	bone
45	chr3:69836200-69836600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr3:69836200-69836800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr3:69836200-69837200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:69836200-69837200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:69836200-69837200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:69836200-69837200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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