Variant report

Variant	rs12665364
Chromosome Location	chr6:74431515-74431516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12524953	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12530058	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12530208	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12530219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58031803	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6935547	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7739291	0.91[EUR][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	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
2	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
5	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
6	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74408000-74446800	Weak transcription	Dnd41	blood
2	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:74415200-74432200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:74421000-74432200	Weak transcription	HSMM	muscle
5	chr6:74422600-74432000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:74423600-74441000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:74424200-74432200	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:74424200-74432600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:74424200-74434400	Weak transcription	Placenta	Placenta
10	chr6:74424200-74443200	Weak transcription	Right Atrium	heart
11	chr6:74424400-74431600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:74424400-74434800	Weak transcription	Adipose Nuclei	Adipose
13	chr6:74424800-74431600	Weak transcription	NHLF	lung
14	chr6:74424800-74431800	Weak transcription	NH-A	brain
15	chr6:74425000-74432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:74425000-74443600	Weak transcription	Lung	lung
17	chr6:74425200-74432000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:74425200-74439800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
20	chr6:74425400-74431800	Weak transcription	HMEC	breast
21	chr6:74425400-74432000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:74425400-74432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:74425400-74432000	Weak transcription	NHEK	skin
24	chr6:74425400-74432000	Weak transcription	Osteobl	bone
25	chr6:74425400-74483200	Weak transcription	A549	lung
26	chr6:74425600-74431800	Weak transcription	HUVEC	blood vessel
27	chr6:74428400-74432000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:74430000-74432000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:74430400-74432400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:74430400-74433400	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:74430600-74435000	Enhancers	Fetal Heart	heart
32	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
33	chr6:74430800-74431800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:74431000-74431600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:74431000-74431600	Weak transcription	NHDF-Ad	bronchial
36	chr6:74431000-74432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:74431000-74432000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:74431400-74433000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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