Variant report

Variant	rs2980675
Chromosome Location	chr8:6458267-6458268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17063456	1.00[EUR][1000 genomes]
rs2922839	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2980670	1.00[EUR][1000 genomes]
rs2980671	1.00[EUR][1000 genomes]
rs2980672	1.00[EUR][1000 genomes]
rs2980673	1.00[EUR][1000 genomes]
rs2980677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73511012	1.00[EUR][1000 genomes]
rs73511013	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73511017	1.00[EUR][1000 genomes]
rs73511018	1.00[EUR][1000 genomes]
rs73511022	1.00[EUR][1000 genomes]
rs73511024	1.00[EUR][1000 genomes]
rs73511025	1.00[EUR][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:70 , 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	chr8:6442600-6479000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:6450200-6478400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:6452000-6459600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:6452400-6459800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:6452400-6464000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:6453200-6458800	Weak transcription	Esophagus	oesophagus
10	chr8:6453200-6459000	Weak transcription	Pancreas	Pancrea
11	chr8:6453200-6462600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:6453200-6464000	Weak transcription	Spleen	Spleen
13	chr8:6453200-6467600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:6454000-6459600	Weak transcription	Ovary	ovary
15	chr8:6454000-6459800	Weak transcription	Fetal Thymus	thymus
16	chr8:6454200-6462600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:6455200-6458600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:6455400-6460400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:6455600-6468400	Weak transcription	Aorta	Aorta
20	chr8:6455800-6463600	Weak transcription	Primary T cells from cord blood	blood
21	chr8:6456200-6458600	Enhancers	HMEC	breast
22	chr8:6456400-6458400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:6456400-6459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:6456400-6464000	Weak transcription	Thymus	Thymus
25	chr8:6456800-6459800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:6456800-6463800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:6456800-6470000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:6457000-6459800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:6457200-6460400	Enhancers	Adipose Nuclei	Adipose
30	chr8:6457200-6462600	Weak transcription	Dnd41	blood
31	chr8:6457200-6479200	Weak transcription	Brain Germinal Matrix	brain
32	chr8:6457400-6458600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr8:6457400-6459600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:6457400-6460600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:6457400-6463000	Enhancers	Placenta	Placenta
36	chr8:6457400-6479200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:6457600-6458400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:6457600-6458600	Enhancers	Psoas Muscle	Psoas
39	chr8:6457600-6460000	Enhancers	Right Atrium	heart
40	chr8:6457600-6460000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:6457600-6460800	Enhancers	HUVEC	blood vessel
42	chr8:6457600-6467400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:6457800-6458400	Weak transcription	Fetal Stomach	stomach
44	chr8:6457800-6459600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:6457800-6459600	Enhancers	Left Ventricle	heart
46	chr8:6457800-6460000	Enhancers	Right Ventricle	heart
47	chr8:6457800-6460200	Enhancers	Lung	lung
48	chr8:6457800-6462400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:6457800-6462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:6457800-6479200	Weak transcription	Brain Inferior Temporal Lobe	brain

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