Variant report

Variant	rs4240505
Chromosome Location	chr10:50678066-50678067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10776574	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101148	0.98[EUR][1000 genomes]
rs12220258	0.80[ASN][1000 genomes]
rs1924489	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2209281	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377938	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2889791	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3763730	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4240506	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253009	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4253217	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253226	0.80[ASN][1000 genomes]
rs4838516	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4838518	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4838519	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070896	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7082895	0.85[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7096755	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7100734	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7899981	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7904860	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7906303	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7907557	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7908359	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7922756	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7923874	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs932735	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:123 , 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	chr10:50662400-50690000	Weak transcription	Stomach Mucosa	stomach
3	chr10:50662400-50693200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:50662600-50691400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:50663200-50693800	Weak transcription	HepG2	liver
6	chr10:50664600-50678200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:50666600-50684400	Weak transcription	NHLF	lung
8	chr10:50666800-50678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr10:50667800-50707400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr10:50668200-50680200	Weak transcription	GM12878-XiMat	blood
12	chr10:50668400-50678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:50669000-50678200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:50670600-50691600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr10:50671600-50686600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:50671800-50679400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:50671800-50693800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:50672000-50679600	Weak transcription	Dnd41	blood
19	chr10:50672000-50687200	Strong transcription	Fetal Muscle Leg	muscle
20	chr10:50672000-50691800	Strong transcription	Primary T cells from cord blood	blood
21	chr10:50672200-50679400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:50672200-50691800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:50672400-50691600	Strong transcription	Ovary	ovary
24	chr10:50672600-50686800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr10:50672600-50691800	Strong transcription	Adipose Nuclei	Adipose
26	chr10:50672800-50678200	Weak transcription	Thymus	Thymus
27	chr10:50672800-50691600	Strong transcription	HUVEC	blood vessel
28	chr10:50672800-50691800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr10:50673000-50679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:50673000-50690000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:50673200-50679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:50673200-50683800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:50673200-50687600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr10:50673200-50688000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:50673200-50691800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:50673400-50691600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:50673600-50691600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr10:50673600-50692800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:50673600-50693200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr10:50673800-50678200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:50673800-50679600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:50673800-50685400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:50673800-50687600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:50673800-50687800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr10:50674000-50687800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:50674000-50690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr10:50674000-50691600	Strong transcription	HMEC	breast
48	chr10:50674000-50691600	Strong transcription	Osteobl	bone
49	chr10:50674200-50686600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr10:50674200-50691600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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