Variant report

Variant	rs2442552
Chromosome Location	chr8:6430269-6430270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6428889..6430599-chr8:6628559..6630714,2	K562	blood:
2	chr8:6281135..6282131-chr8:6429461..6430416,3	K562	blood:
3	chr8:6281453..6284315-chr8:6428967..6430752,3	K562	blood:

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

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

rs_ID	r²[population]
rs2442554	1.00[AMR][1000 genomes]
rs2922846	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs58191715	1.00[AMR][1000 genomes]
rs58802159	1.00[AMR][1000 genomes]
rs60458405	1.00[AMR][1000 genomes]
rs73507122	1.00[AMR][1000 genomes]
rs73509298	1.00[AMR][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	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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:55 , 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	chr8:6416800-6442400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:6417600-6442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
5	chr8:6420800-6433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:6421000-6435400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:6421200-6436200	Weak transcription	Right Atrium	heart
8	chr8:6421400-6433200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood
10	chr8:6424200-6442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:6424400-6434400	Weak transcription	Lung	lung
12	chr8:6424400-6442800	Weak transcription	NHEK	skin
13	chr8:6424600-6433400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:6424800-6436600	Weak transcription	Esophagus	oesophagus
15	chr8:6424800-6440600	Weak transcription	Primary T cells from cord blood	blood
16	chr8:6424800-6442200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:6424800-6442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:6424800-6451600	Weak transcription	Spleen	Spleen
19	chr8:6425000-6432800	Weak transcription	Pancreas	Pancrea
20	chr8:6425800-6430400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:6426200-6433200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:6426400-6433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:6426400-6442800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:6426600-6442800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:6427400-6432600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:6427600-6435600	Weak transcription	Ovary	ovary
27	chr8:6427800-6451200	Weak transcription	Adipose Nuclei	Adipose
28	chr8:6428200-6431400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:6428200-6433600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:6428200-6435400	Weak transcription	Aorta	Aorta
31	chr8:6428200-6435600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:6428200-6440800	Weak transcription	Thymus	Thymus
33	chr8:6428200-6441000	Weak transcription	Fetal Kidney	kidney
34	chr8:6428200-6442200	Weak transcription	HSMM	muscle
35	chr8:6428200-6450800	Weak transcription	Left Ventricle	heart
36	chr8:6428400-6439400	Weak transcription	Fetal Stomach	stomach
37	chr8:6428800-6430400	Enhancers	HUVEC	blood vessel
38	chr8:6429000-6432400	Enhancers	Dnd41	blood
39	chr8:6429000-6437800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:6429400-6435400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:6429800-6431000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:6430000-6430400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:6430000-6430400	Enhancers	NHDF-Ad	bronchial
44	chr8:6430000-6430800	Enhancers	Osteobl	bone
45	chr8:6430000-6431200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:6430000-6431400	Enhancers	K562	blood
47	chr8:6430200-6430400	Enhancers	Fetal Brain Female	brain
48	chr8:6430200-6430600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:6430200-6430800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:6430200-6430800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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