Variant report

Variant	rs28360541
Chromosome Location	chr6:74432427-74432428
allele	G/T
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]
rs10223501	0.80[EUR][1000 genomes]
rs12211905	0.83[ASN][1000 genomes]
rs12215671	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2173854	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464751	0.98[EUR][1000 genomes]
rs56093139	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747167	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:51 , 50 per page) page: 1 2

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	chr6:74423600-74441000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:74424200-74432600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:74424200-74434400	Weak transcription	Placenta	Placenta
6	chr6:74424200-74443200	Weak transcription	Right Atrium	heart
7	chr6:74424400-74434800	Weak transcription	Adipose Nuclei	Adipose
8	chr6:74425000-74443600	Weak transcription	Lung	lung
9	chr6:74425200-74439800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
11	chr6:74425400-74483200	Weak transcription	A549	lung
12	chr6:74430400-74433400	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:74430600-74435000	Enhancers	Fetal Heart	heart
14	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
15	chr6:74431400-74433000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:74431600-74433400	Enhancers	NHLF	lung
17	chr6:74431600-74433600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:74431600-74434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:74431800-74432600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:74431800-74432800	Genic enhancers	HMEC	breast
21	chr6:74432000-74432600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:74432000-74432600	Flanking Active TSS	NHDF-Ad	bronchial
23	chr6:74432000-74432800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:74432000-74432800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:74432000-74432800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr6:74432000-74432800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:74432000-74432800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:74432000-74432800	Enhancers	HSMMtube	muscle
29	chr6:74432000-74432800	Flanking Active TSS	NH-A	brain
30	chr6:74432000-74433000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:74432000-74433000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr6:74432000-74433000	Genic enhancers	NHEK	skin
33	chr6:74432000-74433400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:74432000-74433400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:74432000-74434800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:74432200-74432800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:74432200-74432800	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:74432200-74433000	Enhancers	Colon Smooth Muscle	Colon
39	chr6:74432200-74433000	Flanking Active TSS	Osteobl	bone
40	chr6:74432200-74438600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:74432400-74432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:74432400-74432600	Enhancers	Primary B cells from cord blood	blood
43	chr6:74432400-74432600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:74432400-74432600	Enhancers	Fetal Muscle Leg	muscle
45	chr6:74432400-74432600	Enhancers	HUVEC	blood vessel
46	chr6:74432400-74432800	Weak transcription	HSMM	muscle
47	chr6:74432400-74433000	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:74432400-74434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:74432400-74440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:74432400-74442600	Weak transcription	Left Ventricle	heart

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