Variant report

Variant	rs4240506
Chromosome Location	chr10:50691009-50691010
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	chr10:50684472..50687283-chr10:50689821..50691644,2	MCF-7	breast:
2	chr10:50686326..50689045-chr10:50690550..50693258,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10776574	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11101140	0.80[ASN][1000 genomes]
rs11101148	0.98[EUR][1000 genomes]
rs1924489	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2209281	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2377938	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2889791	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3763730	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4240505	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4240507	0.80[ASN][1000 genomes]
rs4253009	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4253217	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4838516	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4838518	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4838519	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7070896	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7082895	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7096755	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7100734	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7899981	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7904860	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7906303	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7907557	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7908359	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7922756	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7923874	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs932735	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	chr10:50674400-50691600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr10:50674400-50691600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr10:50674400-50691800	Strong transcription	NHEK	skin
27	chr10:50674600-50691400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr10:50674600-50691600	Strong transcription	Primary B cells from cord blood	blood
29	chr10:50674600-50691600	Strong transcription	Left Ventricle	heart
30	chr10:50675400-50691600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:50675600-50691600	Strong transcription	Fetal Intestine Large	intestine
32	chr10:50675800-50691600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr10:50678800-50692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr10:50679800-50691600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:50680200-50691600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:50680200-50692400	Weak transcription	Fetal Heart	heart
37	chr10:50680400-50691600	Strong transcription	HSMMtube	muscle
38	chr10:50682800-50692600	Weak transcription	NHDF-Ad	bronchial
39	chr10:50683800-50691600	Strong transcription	Aorta	Aorta
40	chr10:50684200-50695400	Weak transcription	Fetal Thymus	thymus
41	chr10:50685000-50723400	Weak transcription	NHLF	lung
42	chr10:50685200-50691600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr10:50685800-50694600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr10:50686200-50705400	Weak transcription	Brain Germinal Matrix	brain
45	chr10:50686400-50693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:50686400-50707200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr10:50686400-50710600	Weak transcription	Psoas Muscle	Psoas
48	chr10:50686400-50716400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:50686400-50716600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr10:50686600-50692400	Weak transcription	NH-A	brain

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