Variant report

Variant	rs3020255
Chromosome Location	chr8:6469008-6469009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6468012..6469872-chr8:6474999..6477406,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2515530	1.00[YRI][hapmap]
rs2959773	1.00[YRI][hapmap]
rs2980667	1.00[YRI][hapmap]
rs2980668	1.00[YRI][hapmap]
rs73184463	1.00[AFR][1000 genomes]
rs73184465	1.00[AFR][1000 genomes]
rs73184466	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:6442600-6479000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:6450200-6478400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:6456800-6470000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:6457200-6479200	Weak transcription	Brain Germinal Matrix	brain
6	chr8:6457400-6479200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:6457800-6479200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:6458000-6472200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:6458000-6472600	Weak transcription	Gastric	stomach
10	chr8:6458000-6498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:6458600-6479800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:6460000-6472800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:6460000-6473800	Weak transcription	Right Atrium	heart
14	chr8:6460000-6479000	Weak transcription	Pancreas	Pancrea
15	chr8:6460200-6479000	Weak transcription	Lung	lung
16	chr8:6460600-6469800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:6461400-6479800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:6463000-6474000	Weak transcription	HSMMtube	muscle
19	chr8:6464200-6470600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:6464200-6474400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:6464400-6469800	Weak transcription	Thymus	Thymus
22	chr8:6464400-6472000	Weak transcription	NHEK	skin
23	chr8:6464400-6478400	Weak transcription	Primary T cells from cord blood	blood
24	chr8:6464400-6478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:6464400-6479000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:6464800-6473800	Weak transcription	Spleen	Spleen
27	chr8:6464800-6481000	Weak transcription	Primary B cells from cord blood	blood
28	chr8:6465000-6470000	Weak transcription	Dnd41	blood
29	chr8:6465000-6478600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:6465800-6471800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:6466000-6469200	Enhancers	Fetal Muscle Leg	muscle
32	chr8:6466000-6469800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:6466000-6471800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:6466800-6471800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:6467400-6469200	Enhancers	Fetal Stomach	stomach
36	chr8:6467600-6472400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:6467800-6477600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:6468000-6479000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:6468600-6470200	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:6468600-6479200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:6468800-6471800	Weak transcription	Fetal Lung	lung
42	chr8:6468800-6472400	Weak transcription	Fetal Kidney	kidney
43	chr8:6468800-6478800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:6469000-6470000	Weak transcription	Fetal Thymus	thymus
45	chr8:6469000-6473200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:6469000-6473600	Weak transcription	Placenta	Placenta
47	chr8:6469000-6479000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:6469000-6479000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:6469000-6479200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:6469000-6479400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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