Variant report

Variant	rs67309967
Chromosome Location	chr7:40583846-40583847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10429076	0.90[EUR][1000 genomes]
rs10486811	0.88[EUR][1000 genomes]
rs11973006	0.87[EUR][1000 genomes]
rs17171730	0.97[EUR][1000 genomes]
rs17171734	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17171747	0.89[EUR][1000 genomes]
rs2051919	0.81[EUR][1000 genomes]
rs34523428	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3919491	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4720367	0.86[EUR][1000 genomes]
rs4720368	0.84[AFR][1000 genomes]
rs4720370	1.00[ASN][1000 genomes]
rs4723966	0.86[AFR][1000 genomes]
rs4723968	0.86[AFR][1000 genomes]
rs4723969	0.88[AFR][1000 genomes]
rs57268522	0.82[AFR][1000 genomes]
rs58275184	0.85[AFR][1000 genomes]
rs60011074	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60999211	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61094306	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61107746	0.87[EUR][1000 genomes]
rs66582232	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66743443	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67081175	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67156695	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67340458	0.92[EUR][1000 genomes]
rs68082095	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948724	0.88[EUR][1000 genomes]
rs6948900	0.89[EUR][1000 genomes]
rs6956277	0.87[EUR][1000 genomes]
rs6962853	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122188	0.89[EUR][1000 genomes]
rs73308254	0.86[AFR][1000 genomes]
rs73308257	0.90[AFR][1000 genomes]
rs73308260	0.88[AFR][1000 genomes]
rs73308263	0.84[AFR][1000 genomes]
rs73308264	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73308269	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73308281	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73308284	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73308291	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73308300	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73310208	1.00[ASN][1000 genomes]
rs73310222	0.85[AFR][1000 genomes]
rs73310225	0.85[AFR][1000 genomes]
rs73310227	0.85[AFR][1000 genomes]
rs73310231	0.85[AFR][1000 genomes]
rs7776976	0.86[EUR][1000 genomes]
rs9632613	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40567600-40584600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:40578200-40586400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:40580800-40587000	Enhancers	NHDF-Ad	bronchial
4	chr7:40581400-40584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:40581800-40585000	Enhancers	Fetal Stomach	stomach
6	chr7:40581800-40585400	Enhancers	HSMMtube	muscle
7	chr7:40582200-40585600	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:40582400-40585000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr7:40582400-40585600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:40582600-40584600	Weak transcription	Fetal Heart	heart
11	chr7:40582800-40585200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:40583200-40585400	Enhancers	Adipose Nuclei	Adipose
13	chr7:40583400-40584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:40583400-40584000	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:40583400-40584800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:40583400-40585200	Enhancers	Osteobl	bone
17	chr7:40583600-40584000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr7:40583600-40584600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:40583800-40584000	Active TSS	Stomach Smooth Muscle	stomach
20	chr7:40583800-40584200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:40583800-40584200	Enhancers	Aorta	Aorta
22	chr7:40583800-40584200	Enhancers	Small Intestine	intestine
23	chr7:40583800-40584400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:40583800-40585000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:40583800-40585000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:40583800-40585000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:40583800-40585000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:40583800-40585000	Enhancers	Fetal Muscle Leg	muscle
29	chr7:40583800-40585000	Enhancers	Ovary	ovary
30	chr7:40583800-40585600	Enhancers	Fetal Kidney	kidney
31	chr7:40583800-40585800	Enhancers	Fetal Lung	lung

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