Variant report

Variant	rs3020248
Chromosome Location	chr8:6452557-6452558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6445030..6447466-chr8:6452102..6454999,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17077609	0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap]
rs17077633	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442567	1.00[CEU][hapmap]
rs2922848	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs2922849	1.00[CEU][hapmap]
rs2922850	1.00[CEU][hapmap]
rs2922854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922856	1.00[CEU][hapmap]
rs2959787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2980676	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs7817089	1.00[YRI][hapmap]

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	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

No data

Chromatin state (count:85 , 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	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
3	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood
4	chr8:6432200-6453800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:6432400-6457600	Weak transcription	Gastric	stomach
6	chr8:6435600-6453400	Weak transcription	Dnd41	blood
7	chr8:6436600-6452800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:6442400-6452800	Weak transcription	Thymus	Thymus
9	chr8:6442600-6479000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:6443400-6452600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:6443400-6456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:6449200-6453200	Weak transcription	Fetal Thymus	thymus
13	chr8:6450200-6478400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:6450400-6454600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:6450800-6452800	Enhancers	Psoas Muscle	Psoas
16	chr8:6450800-6453000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:6450800-6453200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:6450800-6453600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:6450800-6456400	Enhancers	Left Ventricle	heart
20	chr8:6451000-6452600	Enhancers	HMEC	breast
21	chr8:6451000-6452800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:6451000-6453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:6451000-6453000	Enhancers	Fetal Heart	heart
24	chr8:6451000-6453000	Enhancers	HSMMtube	muscle
25	chr8:6451000-6453800	Enhancers	Right Ventricle	heart
26	chr8:6451000-6453800	Enhancers	NHDF-Ad	bronchial
27	chr8:6451000-6454000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:6451200-6452800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:6451200-6453000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:6451200-6453000	Flanking Active TSS	HepG2	liver
31	chr8:6451200-6453800	Enhancers	Adipose Nuclei	Adipose
32	chr8:6451400-6452600	Enhancers	Colon Smooth Muscle	Colon
33	chr8:6451400-6452600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:6451400-6452800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:6451400-6453000	Enhancers	Ovary	ovary
36	chr8:6451400-6453200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:6451400-6453200	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:6451400-6453200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:6451400-6453200	Enhancers	Brain Substantia Nigra	brain
40	chr8:6451400-6453200	Enhancers	Lung	lung
41	chr8:6451400-6453200	Enhancers	Pancreas	Pancrea
42	chr8:6451400-6453400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:6451400-6453400	Enhancers	Placenta	Placenta
44	chr8:6451400-6453800	Enhancers	Right Atrium	heart
45	chr8:6451400-6453800	Enhancers	NHLF	lung
46	chr8:6451400-6454000	Enhancers	Fetal Muscle Leg	muscle
47	chr8:6451400-6454200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:6451400-6455000	Enhancers	Fetal Muscle Trunk	muscle
49	chr8:6451600-6452800	Enhancers	Fetal Lung	lung
50	chr8:6451600-6453200	Genic enhancers	Spleen	Spleen

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