Variant report

Variant	rs10486815
Chromosome Location	chr7:40803536-40803537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1013575	1.00[EUR][1000 genomes]
rs1013576	1.00[EUR][1000 genomes]
rs11981180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531482	1.00[EUR][1000 genomes]
rs12531846	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532716	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532916	1.00[EUR][1000 genomes]
rs12534713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538963	1.00[EUR][1000 genomes]
rs12539159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171765	1.00[EUR][1000 genomes]
rs17171779	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17714132	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714215	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17714523	1.00[EUR][1000 genomes]
rs17770820	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1921751	1.00[EUR][1000 genomes]
rs1990190	1.00[EUR][1000 genomes]
rs2302027	1.00[EUR][1000 genomes]
rs35105954	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720372	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4720374	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4720375	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720376	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4720382	1.00[EUR][1000 genomes]
rs4720383	1.00[EUR][1000 genomes]
rs4723975	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4723981	1.00[EUR][1000 genomes]
rs723837	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7781779	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7794957	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40798200-40809400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:40799800-40804600	Enhancers	Fetal Lung	lung
3	chr7:40801000-40808200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:40801200-40805200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:40802800-40803600	Enhancers	Brain Substantia Nigra	brain
6	chr7:40802800-40803800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:40802800-40804400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:40802800-40804400	Enhancers	NHDF-Ad	bronchial
9	chr7:40802800-40804600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:40802800-40804600	Enhancers	HSMM	muscle
11	chr7:40803000-40803600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:40803000-40803600	Enhancers	Brain Hippocampus Middle	brain
13	chr7:40803000-40803600	Flanking Active TSS	HSMMtube	muscle
14	chr7:40803000-40803800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:40803000-40803800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:40803000-40803800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:40803000-40803800	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:40803000-40803800	Flanking Active TSS	Osteobl	bone
19	chr7:40803000-40804200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:40803200-40803600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr7:40803200-40803600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:40803200-40803600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr7:40803200-40803600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:40803200-40803600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr7:40803200-40803600	Enhancers	Brain Angular Gyrus	brain
26	chr7:40803200-40803600	Enhancers	Brain Anterior Caudate	brain
27	chr7:40803200-40803600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:40803200-40803600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr7:40803200-40803600	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:40803200-40803800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:40803200-40804000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:40803200-40804200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:40803200-40804400	Enhancers	Fetal Stomach	stomach
34	chr7:40803200-40804600	Enhancers	Fetal Muscle Leg	muscle
35	chr7:40803200-40805400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:40803200-40805400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:40803200-40805600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:40803400-40803600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:40803400-40803600	Flanking Active TSS	NHLF	lung
40	chr7:40803400-40803800	Active TSS	Aorta	Aorta
41	chr7:40803400-40804000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:40803400-40804600	Enhancers	NH-A	brain
43	chr7:40803400-40806000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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