Variant report

Variant	rs56093139
Chromosome Location	chr6:74432923-74432924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12211905	0.83[ASN][1000 genomes]
rs12215671	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2173854	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28360541	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4464751	0.88[EUR][1000 genomes]
rs7747167	0.98[AMR][1000 genomes];0.90[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:50 , 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	chr6:74423600-74441000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:74424200-74434400	Weak transcription	Placenta	Placenta
5	chr6:74424200-74443200	Weak transcription	Right Atrium	heart
6	chr6:74424400-74434800	Weak transcription	Adipose Nuclei	Adipose
7	chr6:74425000-74443600	Weak transcription	Lung	lung
8	chr6:74425200-74439800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:74425200-74475800	Weak transcription	Hela-S3	cervix
10	chr6:74425400-74483200	Weak transcription	A549	lung
11	chr6:74430400-74433400	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:74430600-74435000	Enhancers	Fetal Heart	heart
13	chr6:74430600-74455400	Weak transcription	Right Ventricle	heart
14	chr6:74431400-74433000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:74431600-74433400	Enhancers	NHLF	lung
16	chr6:74431600-74433600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:74431600-74434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:74432000-74433000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:74432000-74433000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr6:74432000-74433000	Genic enhancers	NHEK	skin
21	chr6:74432000-74433400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:74432000-74433400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:74432000-74434800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:74432200-74433000	Enhancers	Colon Smooth Muscle	Colon
25	chr6:74432200-74433000	Flanking Active TSS	Osteobl	bone
26	chr6:74432200-74438600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:74432400-74433000	Flanking Active TSS	GM12878-XiMat	blood
28	chr6:74432400-74434200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:74432400-74440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:74432400-74442600	Weak transcription	Left Ventricle	heart
31	chr6:74432400-74444200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:74432600-74433200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:74432600-74433800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:74432600-74434200	Weak transcription	Primary B cells from cord blood	blood
35	chr6:74432600-74434600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:74432600-74434600	Genic enhancers	NHDF-Ad	bronchial
37	chr6:74432600-74440400	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:74432800-74433000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:74432800-74433000	Enhancers	HSMM	muscle
40	chr6:74432800-74433200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:74432800-74433200	Enhancers	HUVEC	blood vessel
42	chr6:74432800-74433400	Enhancers	NH-A	brain
43	chr6:74432800-74433600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:74432800-74434000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:74432800-74434000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:74432800-74434400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr6:74432800-74434800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:74432800-74436200	Weak transcription	HMEC	breast
49	chr6:74432800-74440200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:74432800-74442600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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