Variant report

Variant	rs62266259
Chromosome Location	chr3:139969132-139969133
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	chr3:139966856..139969522-chr3:139972247..139974202,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55909253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56137512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56156172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56248764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62266224	0.85[EUR][1000 genomes]
rs62266225	0.85[EUR][1000 genomes]
rs62266226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62266258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62267972	1.00[EUR][1000 genomes]
rs62267997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62267999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62268001	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6807041	1.00[EUR][1000 genomes]
rs7640659	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139962000-139970600	Weak transcription	Ovary	ovary
2	chr3:139963200-139969800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:139964000-139971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:139964800-139970400	Weak transcription	HSMM	muscle
5	chr3:139965200-139970600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:139965800-139969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:139966000-139970400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:139966000-139970800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:139966200-139970400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:139966400-139969200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:139967000-139969200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:139967400-139971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:139967600-139970400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:139968000-139969600	Enhancers	Right Atrium	heart
15	chr3:139968000-139971800	Enhancers	Fetal Muscle Leg	muscle
16	chr3:139968400-139970600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:139968600-139969800	Weak transcription	Brain Anterior Caudate	brain
18	chr3:139968600-139969800	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:139968600-139970000	Enhancers	Adipose Nuclei	Adipose
20	chr3:139968600-139970800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:139968800-139969400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:139968800-139969400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:139968800-139969400	Enhancers	HSMMtube	muscle
24	chr3:139969000-139971200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:139969000-139972000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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