Variant report

Variant	rs4253166
Chromosome Location	chr10:50690017-50690018
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50684472..50687283-chr10:50689821..50691644,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1130028	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11812473	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11815156	0.87[EUR][1000 genomes]
rs11819019	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17010079	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17719092	0.88[EUR][1000 genomes]
rs17775180	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228529	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36079558	0.90[EUR][1000 genomes]
rs3940160	0.97[ASN][1000 genomes]
rs4253011	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253028	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253042	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253049	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253055	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4253101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253121	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253165	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56164647	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58002245	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58711755	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs58912975	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59898389	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61846612	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61846615	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs61846616	0.96[EUR][1000 genomes]
rs61846617	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs61846618	0.95[EUR][1000 genomes]
rs61846620	0.90[EUR][1000 genomes]
rs61846637	0.87[EUR][1000 genomes]
rs61850971	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61850976	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7073830	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7079192	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7093098	0.96[EUR][1000 genomes]
rs7097122	0.87[EUR][1000 genomes]
rs7097866	0.90[EUR][1000 genomes]
rs7909222	0.88[EUR][1000 genomes]
rs7920256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50662200-50691600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:50662400-50693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:50662600-50691400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:50663200-50693800	Weak transcription	HepG2	liver
5	chr10:50667800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:50670600-50691600	Strong transcription	Muscle Satellite Cultured Cells	--
8	chr10:50671800-50693800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:50672000-50691800	Strong transcription	Primary T cells from cord blood	blood
10	chr10:50672200-50691800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:50672400-50691600	Strong transcription	Ovary	ovary
12	chr10:50672600-50691800	Strong transcription	Adipose Nuclei	Adipose
13	chr10:50672800-50691600	Strong transcription	HUVEC	blood vessel
14	chr10:50672800-50691800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr10:50673200-50691800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:50673400-50691600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:50673600-50691600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:50673600-50692800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:50673600-50693200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:50674000-50691600	Strong transcription	HMEC	breast
21	chr10:50674000-50691600	Strong transcription	Osteobl	bone
22	chr10:50674200-50691600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr10:50674200-50691600	Strong transcription	Liver	Liver
24	chr10:50674400-50690400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr10:50674400-50691600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr10:50674400-50691600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr10:50674400-50691800	Strong transcription	NHEK	skin
28	chr10:50674600-50691400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr10:50674600-50691600	Strong transcription	Primary B cells from cord blood	blood
30	chr10:50674600-50691600	Strong transcription	Left Ventricle	heart
31	chr10:50675400-50691600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:50675600-50691600	Strong transcription	Fetal Intestine Large	intestine
33	chr10:50675800-50691600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:50678800-50692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr10:50679800-50691600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr10:50680200-50691600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr10:50680200-50692400	Weak transcription	Fetal Heart	heart
38	chr10:50680400-50691600	Strong transcription	HSMMtube	muscle
39	chr10:50682800-50692600	Weak transcription	NHDF-Ad	bronchial
40	chr10:50683800-50691600	Strong transcription	Aorta	Aorta
41	chr10:50684200-50695400	Weak transcription	Fetal Thymus	thymus
42	chr10:50685000-50723400	Weak transcription	NHLF	lung
43	chr10:50685200-50691000	Strong transcription	Hela-S3	cervix
44	chr10:50685200-50691600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr10:50685800-50694600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr10:50686200-50705400	Weak transcription	Brain Germinal Matrix	brain
47	chr10:50686400-50693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:50686400-50707200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:50686400-50710600	Weak transcription	Psoas Muscle	Psoas
50	chr10:50686400-50716400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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