Variant report

Variant	rs73308300
Chromosome Location	chr7:40625620-40625621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1000013	0.90[EUR][1000 genomes]
rs1019018	0.93[EUR][1000 genomes]
rs10254954	0.84[EUR][1000 genomes]
rs10263677	0.92[EUR][1000 genomes]
rs10486810	0.91[EUR][1000 genomes]
rs11974322	0.91[EUR][1000 genomes]
rs11980464	0.90[EUR][1000 genomes]
rs11982075	0.90[EUR][1000 genomes]
rs17171727	0.90[EUR][1000 genomes]
rs17171734	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859660	0.90[EUR][1000 genomes]
rs2329818	0.97[EUR][1000 genomes]
rs2329819	0.91[EUR][1000 genomes]
rs28657711	0.94[EUR][1000 genomes]
rs34523428	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3919491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720368	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4720370	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720371	0.91[EUR][1000 genomes]
rs4723966	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723967	0.84[EUR][1000 genomes]
rs4723968	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723969	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4723970	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4723972	0.93[EUR][1000 genomes]
rs57268522	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60011074	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462985	0.90[EUR][1000 genomes]
rs66582232	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66743443	1.00[ASN][1000 genomes]
rs67081175	0.85[AFR][1000 genomes]
rs67156695	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67309967	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68082095	1.00[ASN][1000 genomes]
rs6943787	0.91[EUR][1000 genomes]
rs6945570	0.84[EUR][1000 genomes]
rs6962853	1.00[ASN][1000 genomes]
rs6977104	0.84[EUR][1000 genomes]
rs73308254	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73308257	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73308260	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73308263	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73308264	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308269	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308281	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308289	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73308291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310208	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808612	0.90[EUR][1000 genomes]
rs917204	0.91[EUR][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	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
2	nsv1030515	chr7:40501867-40634808	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv887987	chr7:40505382-40748650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40611800-40626000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:40619400-40626000	Weak transcription	HSMM	muscle
3	chr7:40619600-40630200	Weak transcription	Aorta	Aorta
4	chr7:40621000-40626000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:40622200-40625800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:40622600-40625800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:40623200-40626400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:40623200-40626400	Enhancers	HMEC	breast
9	chr7:40623200-40626400	Enhancers	NHDF-Ad	bronchial
10	chr7:40623400-40626800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:40624400-40626200	Enhancers	NH-A	brain
12	chr7:40624400-40626400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:40624400-40626400	Enhancers	NHEK	skin
14	chr7:40624400-40626600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:40624600-40626000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:40624800-40626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:40624800-40626200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:40625000-40625800	Weak transcription	HUVEC	blood vessel
19	chr7:40625000-40626000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:40625000-40626000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:40625000-40626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:40625400-40625800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:40625600-40626400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:40625600-40626400	Enhancers	Osteobl	bone
25	chr7:40625600-40626800	Enhancers	Primary monocytes fromperipheralblood	blood

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