Variant report

Variant	rs62250976
Chromosome Location	chr3:69835405-69835406
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69820056..69823613-chr3:69833464..69836716,3	K562	blood:
2	chr3:69824164..69825783-chr3:69833410..69835761,2	MCF-7	breast:
3	chr3:69704610..69707455-chr3:69833061..69835848,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11128143	0.89[ASN][1000 genomes]
rs12714757	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367369	0.86[ASN][1000 genomes]
rs17006419	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17043851	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2114660	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2116000	0.85[ASN][1000 genomes]
rs28378222	0.86[ASN][1000 genomes]
rs28613540	0.86[ASN][1000 genomes]
rs4855323	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4855447	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4855448	0.89[ASN][1000 genomes]
rs55947901	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56286049	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57537586	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58244283	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58529025	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60551165	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62250970	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62250977	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]
rs6786207	0.86[ASN][1000 genomes]
rs6786226	0.86[ASN][1000 genomes]
rs7648607	0.86[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	chr3:69830000-69835600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:69830000-69836000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:69831000-69835600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:69832800-69836000	Enhancers	Stomach Smooth Muscle	stomach
8	chr3:69833000-69836000	Enhancers	HSMMtube	muscle
9	chr3:69833200-69836400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:69833200-69836400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:69833200-69837200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:69833200-69837200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:69833200-69837200	Enhancers	NHLF	lung
14	chr3:69833200-69838000	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:69833400-69837200	Enhancers	NHDF-Ad	bronchial
16	chr3:69833600-69837200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:69833800-69836800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr3:69833800-69837200	Enhancers	Fetal Lung	lung
19	chr3:69833800-69837200	Enhancers	Hela-S3	cervix
20	chr3:69833800-69837200	Enhancers	NHEK	skin
21	chr3:69834000-69835600	Enhancers	Left Ventricle	heart
22	chr3:69834000-69835600	Enhancers	Pancreas	Pancrea
23	chr3:69834000-69835600	Enhancers	Right Ventricle	heart
24	chr3:69834000-69836400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:69834000-69836400	Enhancers	Right Atrium	heart
26	chr3:69834000-69836600	Enhancers	Ovary	ovary
27	chr3:69834000-69836600	Enhancers	Psoas Muscle	Psoas
28	chr3:69834000-69837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:69834000-69837200	Enhancers	Adipose Nuclei	Adipose
30	chr3:69834200-69836200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:69834200-69836400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:69834200-69837200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:69834200-69837200	Enhancers	HSMM	muscle
34	chr3:69834400-69836200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:69834400-69836600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:69834600-69836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:69834600-69839800	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:69834600-69840400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:69834800-69836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:69834800-69836000	Weak transcription	Aorta	Aorta
41	chr3:69834800-69836200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:69834800-69836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:69834800-69836600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:69834800-69837200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:69834800-69837200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr3:69834800-69837200	Enhancers	K562	blood
47	chr3:69834800-69839800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:69834800-69840200	Weak transcription	Brain Anterior Caudate	brain
49	chr3:69835000-69835600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:69835000-69836000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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