Variant report

Variant	rs472935
Chromosome Location	chr6:72197687-72197688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10155718	0.84[EUR][1000 genomes]
rs1738070	0.84[EUR][1000 genomes]
rs4141421	0.84[EUR][1000 genomes]
rs472572	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs478959	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs492196	0.95[ASN][1000 genomes]
rs493265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs495002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504139	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524110	0.95[ASN][1000 genomes]
rs537876	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs543625	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs547466	0.93[ASN][1000 genomes]
rs547558	0.95[ASN][1000 genomes]
rs548456	0.95[ASN][1000 genomes]
rs555643	0.95[ASN][1000 genomes]
rs558116	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573317	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs580319	0.95[ASN][1000 genomes]
rs701698	0.84[EUR][1000 genomes]
rs701699	0.84[EUR][1000 genomes]
rs852919	0.84[EUR][1000 genomes]
rs852920	0.84[EUR][1000 genomes]
rs852923	0.84[EUR][1000 genomes]
rs852924	0.84[EUR][1000 genomes]
rs852926	0.84[EUR][1000 genomes]
rs852927	0.84[EUR][1000 genomes]
rs852928	0.84[EUR][1000 genomes]
rs852962	0.81[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases
2	nsv1025409	chr6:72175998-72205044	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72189200-72199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:72189600-72199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:72190400-72199000	Weak transcription	Hela-S3	cervix
4	chr6:72191400-72200400	Weak transcription	Psoas Muscle	Psoas
5	chr6:72192000-72200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:72192000-72209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:72192400-72199400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:72193800-72197800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:72194800-72199000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:72196200-72199000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:72196400-72199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:72196400-72199000	Weak transcription	NHDF-Ad	bronchial
13	chr6:72196400-72199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:72196400-72199200	Weak transcription	Aorta	Aorta
15	chr6:72196400-72199200	Weak transcription	NHEK	skin
16	chr6:72196600-72198800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:72196600-72199000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:72196600-72199000	Weak transcription	NH-A	brain
19	chr6:72196800-72197800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:72196800-72197800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:72196800-72198000	Weak transcription	HSMM	muscle
22	chr6:72196800-72198000	Weak transcription	HSMMtube	muscle
23	chr6:72196800-72198000	Weak transcription	NHLF	lung
24	chr6:72196800-72199000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:72196800-72199000	Weak transcription	Osteobl	bone
26	chr6:72197600-72199800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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