Variant report

Variant	rs62256043
Chromosome Location	chr3:53302637-53302638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53292171..53295939-chr3:53301871..53305412,7	K562	blood:
2	chr3:53288095..53292018-chr3:53301615..53306208,9	MCF-7	breast:
3	chr3:53296022..53298789-chr3:53302233..53304296,2	K562	blood:
4	chr3:53263224..53265563-chr3:53301594..53303738,2	K562	blood:

Variant related genes	Relation type
ENSG00000163931	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10433617	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10433618	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1108506	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11551405	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17030933	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17030934	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17234771	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17235667	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41275543	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56654807	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58558806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59145995	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255989	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62255993	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255994	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62255999	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256000	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256003	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256009	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256049	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62256050	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62256053	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256962	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256964	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62256965	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62256966	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62256968	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62256969	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62257004	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62257007	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62257009	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62257011	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62257013	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62257024	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6780100	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73080266	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73080271	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73080273	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73080295	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73082274	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7622159	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9830594	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830895	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846315	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9850440	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864057	0.82[EUR][1000 genomes];0.90[ASN][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	nsv834699	chr3:53151876-53325808	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv517233	chr3:53175557-53321002	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr3:53294000-53303600	Weak transcription	HSMMtube	muscle
2	chr3:53294200-53303600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:53294200-53303800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:53294600-53303400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:53294600-53303400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:53294600-53303600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:53294600-53303600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:53294600-53304000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:53294600-53304200	Weak transcription	Lung	lung
10	chr3:53294800-53304000	Weak transcription	Psoas Muscle	Psoas
11	chr3:53296000-53303600	Weak transcription	Gastric	stomach
12	chr3:53296000-53303800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:53296200-53303000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:53296200-53303600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:53296200-53303600	Weak transcription	Esophagus	oesophagus
16	chr3:53296200-53303600	Weak transcription	NHDF-Ad	bronchial
17	chr3:53296200-53304000	Weak transcription	Right Atrium	heart
18	chr3:53299000-53303400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:53299000-53304000	Weak transcription	Pancreas	Pancrea
20	chr3:53299200-53303600	Weak transcription	Adipose Nuclei	Adipose
21	chr3:53299200-53307200	Weak transcription	Right Ventricle	heart
22	chr3:53299400-53303400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:53299400-53303600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:53299400-53303600	Weak transcription	Fetal Heart	heart
25	chr3:53299400-53303800	Weak transcription	Brain Anterior Caudate	brain
26	chr3:53299400-53304200	Weak transcription	Liver	Liver
27	chr3:53299600-53303600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:53299600-53304000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:53299600-53307400	Weak transcription	Left Ventricle	heart
30	chr3:53300200-53303600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:53300400-53303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:53300600-53303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:53300600-53303600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:53300600-53303600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:53300600-53304000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:53300600-53312800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:53300800-53303600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:53300800-53303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:53300800-53304000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:53301800-53302800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:53301800-53303000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:53301800-53303600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr3:53302000-53303000	Enhancers	NHEK	skin
44	chr3:53302000-53303600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:53302000-53303600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr3:53302000-53303800	Enhancers	Hela-S3	cervix
47	chr3:53302000-53303800	Enhancers	HepG2	liver
48	chr3:53302000-53303800	Enhancers	K562	blood
49	chr3:53302000-53304000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr3:53302000-53304000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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