Variant report

Variant	rs56311419
Chromosome Location	chr6:74415743-74415744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55982851	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56171536	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72953369	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72953372	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72953375	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73754658	0.82[AFR][1000 genomes]
rs9442946	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9442947	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9446983	0.82[AFR][1000 genomes]
rs9446984	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9446985	0.82[AFR][1000 genomes]
rs9446986	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9446988	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	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
10	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74407200-74421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:74407200-74422400	Weak transcription	Fetal Lung	lung
3	chr6:74407200-74423800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:74407200-74424800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:74407400-74423000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:74407600-74424000	Weak transcription	Right Ventricle	heart
7	chr6:74407800-74415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:74407800-74416800	Weak transcription	Thymus	Thymus
9	chr6:74408000-74446800	Weak transcription	Dnd41	blood
10	chr6:74410000-74415800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:74410800-74417400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:74411800-74415800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:74412400-74417400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:74412800-74423600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:74413000-74416200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:74413600-74422200	Weak transcription	Fetal Heart	heart
17	chr6:74414200-74416600	Weak transcription	Lung	lung
18	chr6:74414400-74423000	Weak transcription	Primary T cells from cord blood	blood
19	chr6:74414400-74423200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:74414400-74424000	Weak transcription	Placenta	Placenta
21	chr6:74414600-74420400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:74414600-74423000	Weak transcription	Fetal Thymus	thymus
23	chr6:74414800-74415800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:74414800-74416200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:74414800-74416200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:74414800-74416200	Genic enhancers	NHDF-Ad	bronchial
27	chr6:74414800-74416600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:74414800-74417000	Genic enhancers	HMEC	breast
29	chr6:74414800-74417600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:74414800-74420400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:74414800-74420400	Weak transcription	Left Ventricle	heart
32	chr6:74414800-74422600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:74414800-74423200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr6:74414800-74474600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:74415000-74415800	Weak transcription	Osteobl	bone
36	chr6:74415000-74416000	Weak transcription	A549	lung
37	chr6:74415000-74416600	Weak transcription	HUVEC	blood vessel
38	chr6:74415000-74420200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:74415000-74420200	Weak transcription	Hela-S3	cervix
40	chr6:74415000-74420400	Weak transcription	NH-A	brain
41	chr6:74415000-74420600	Weak transcription	HSMMtube	muscle
42	chr6:74415200-74416000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:74415200-74416200	Enhancers	NHEK	skin
44	chr6:74415200-74416600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:74415200-74420400	Weak transcription	Colon Smooth Muscle	Colon
46	chr6:74415200-74422200	Weak transcription	Adipose Nuclei	Adipose
47	chr6:74415200-74422400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:74415200-74423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:74415200-74432200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:74415400-74416000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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