Variant report

Variant	rs56006827
Chromosome Location	chr6:4942827-4942828
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4941823..4943609-chr6:4950244..4952540,2	K562	blood:
2	chr6:4910812..4914843-chr6:4941704..4944145,3	K562	blood:
3	chr6:4942124..4945364-chr6:4998095..5000781,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13219839	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17284610	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356900	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35354768	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35924874	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55981530	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58567771	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66855133	0.83[EUR][1000 genomes]
rs72823968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4932200-4945000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:4932600-4944200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:4932600-4944600	Weak transcription	Colonic Mucosa	Colon
4	chr6:4932800-4944400	Weak transcription	Thymus	Thymus
5	chr6:4933000-4944400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:4933400-4944600	Weak transcription	Pancreas	Pancrea
7	chr6:4933600-4950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:4933800-4944400	Weak transcription	Gastric	stomach
9	chr6:4934200-4943000	Weak transcription	Right Atrium	heart
10	chr6:4936400-4943000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:4936400-4943200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:4936400-4943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:4936400-4944600	Weak transcription	Liver	Liver
14	chr6:4937000-4943000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:4937000-4944600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:4937400-4944800	Weak transcription	Brain Germinal Matrix	brain
17	chr6:4938000-4956400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:4938400-4944000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:4939000-4943600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:4939400-4943400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:4939800-4944600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:4940000-4943200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:4940000-4944000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:4940200-4943000	Enhancers	Fetal Muscle Leg	muscle
25	chr6:4940200-4943400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:4940200-4943400	Enhancers	NH-A	brain
27	chr6:4940200-4943600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr6:4940200-4943800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:4940600-4943600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:4940600-4943600	Enhancers	HMEC	breast
31	chr6:4940800-4943000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:4940800-4943400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:4940800-4943400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:4940800-4943600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr6:4941000-4943200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:4941000-4943400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:4941000-4943600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:4941000-4943600	Enhancers	Psoas Muscle	Psoas
39	chr6:4941000-4943800	Enhancers	HSMM	muscle
40	chr6:4941000-4943800	Enhancers	NHLF	lung
41	chr6:4941000-4944200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:4941200-4944400	Weak transcription	Placenta	Placenta
43	chr6:4941200-4949600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:4941400-4943200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:4941400-4943200	Enhancers	Right Ventricle	heart
46	chr6:4941400-4943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:4941400-4943400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:4941400-4943400	Enhancers	Fetal Lung	lung
49	chr6:4941400-4943600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:4941400-4943600	Enhancers	Left Ventricle	heart

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