Variant report

Variant	rs62257011
Chromosome Location	chr3:53382724-53382725
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53382055..53384603-chr3:53398040..53400613,2	MCF-7	breast:
2	chr3:53362536..53364152-chr3:53381847..53383413,2	K562	blood:
3	chr3:53163489..53166052-chr3:53379929..53382792,2	K562	blood:
4	chr3:53287992..53290689-chr3:53381475..53383139,2	MCF-7	breast:
5	chr3:53365628..53367539-chr3:53381083..53383491,2	K562	blood:

Variant related genes	Relation type
ENSG00000207109	Chromatin interaction
ENSG00000163931	Chromatin interaction
ENSG00000163933	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	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10433618	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1108506	0.95[EUR][1000 genomes]
rs11551405	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17030933	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17030934	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17234771	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17235667	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56654807	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58558806	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59145995	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62252819	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62255989	0.83[AMR][1000 genomes]
rs62255993	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62255994	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62255999	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62256000	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62256003	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62256009	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62256043	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62256049	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62256050	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62256053	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62256962	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62256964	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256965	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256966	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256968	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62256969	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257004	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257007	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257009	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62257013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62257024	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780100	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805246	1.00[ASN][1000 genomes]
rs73080266	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73080271	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73080273	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73080295	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73082274	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7622159	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9830594	0.90[EUR][1000 genomes]
rs9830895	0.92[EUR][1000 genomes]
rs9846315	0.94[EUR][1000 genomes]
rs9850440	0.93[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	nsv876801	chr3:53325905-53467506	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv876802	chr3:53325905-53470863	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53382200-53382800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr3:53382200-53383800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:53382200-53384000	Weak transcription	HUVEC	blood vessel
4	chr3:53382200-53384600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:53382200-53384600	Weak transcription	NHDF-Ad	bronchial
6	chr3:53382400-53382800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:53382400-53384200	Weak transcription	A549	lung
8	chr3:53382400-53384400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:53382400-53384400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:53382400-53384400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:53382400-53384400	Weak transcription	Hela-S3	cervix
12	chr3:53382400-53384400	Weak transcription	K562	blood
13	chr3:53382400-53384400	Weak transcription	Osteobl	bone
14	chr3:53382400-53384600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:53382400-53384600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:53382400-53384600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:53382400-53384600	Weak transcription	Fetal Lung	lung
18	chr3:53382400-53384800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:53382400-53385000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:53382400-53388600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:53382400-53388600	Weak transcription	NH-A	brain
22	chr3:53382600-53382800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:53382600-53382800	Flanking Active TSS	Placenta	Placenta
24	chr3:53382600-53383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:53382600-53384200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:53382600-53384400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:53382600-53384400	Weak transcription	Fetal Intestine Large	intestine
28	chr3:53382600-53384400	Weak transcription	Fetal Intestine Small	intestine
29	chr3:53382600-53384400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:53382600-53384600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:53382600-53384600	Weak transcription	Adipose Nuclei	Adipose
32	chr3:53382600-53384600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:53382600-53384600	Weak transcription	HepG2	liver
34	chr3:53382600-53389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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