Variant report

Variant	rs3098247
Chromosome Location	chr8:104398234-104398235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17804400	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2575690	0.91[ASN][1000 genomes]
rs2575695	0.87[ASN][1000 genomes]
rs2687358	0.91[ASN][1000 genomes]
rs3098228	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098229	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098230	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3098232	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098254	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133800	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133801	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3133803	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3133805	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3133810	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3133839	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs719841	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1016395	chr8:104327541-104473005	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1023048	chr8:104355188-104872701	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv539705	chr8:104355188-104872701	ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1021345	chr8:104361854-104879684	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv1032085	chr8:104362187-104878345	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1033477	chr8:104369940-104439632	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv539706	chr8:104369940-104439632	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1034183	chr8:104369940-104814008	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv539707	chr8:104369940-104814008	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104384200-104399800	Weak transcription	Primary T cells from cord blood	blood
2	chr8:104384400-104412200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:104384600-104409400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:104384600-104418600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:104385000-104399000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:104385000-104408800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:104385000-104415600	Weak transcription	Placenta	Placenta
8	chr8:104385400-104400400	Weak transcription	A549	lung
9	chr8:104385600-104399200	Weak transcription	Fetal Stomach	stomach
10	chr8:104385600-104399800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:104385600-104400200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:104385600-104400200	Weak transcription	Fetal Thymus	thymus
13	chr8:104385600-104400600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:104385600-104405400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:104385600-104408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:104385600-104423600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:104385600-104424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:104385800-104399800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:104385800-104409000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:104385800-104409000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:104386000-104399800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:104386000-104399800	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:104386000-104400200	Weak transcription	Dnd41	blood
24	chr8:104386000-104400600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:104386000-104409800	Weak transcription	NHLF	lung
26	chr8:104386000-104418600	Weak transcription	Aorta	Aorta
27	chr8:104386000-104425600	Weak transcription	HSMMtube	muscle
28	chr8:104386200-104405600	Weak transcription	HUVEC	blood vessel
29	chr8:104387000-104399800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:104388200-104412200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:104389000-104399200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:104389000-104399800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:104389000-104400400	Weak transcription	NHDF-Ad	bronchial
34	chr8:104393000-104399800	Weak transcription	Psoas Muscle	Psoas
35	chr8:104393200-104399800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:104393200-104400400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:104393200-104400400	Weak transcription	Osteobl	bone
38	chr8:104393200-104423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:104393600-104409800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:104394800-104399800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:104394800-104421800	Weak transcription	Small Intestine	intestine
42	chr8:104395000-104400400	Weak transcription	Primary B cells from cord blood	blood
43	chr8:104395000-104400600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:104395600-104400400	Weak transcription	HMEC	breast
45	chr8:104396000-104399600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:104396000-104400200	Weak transcription	HSMM	muscle
47	chr8:104396000-104400600	Weak transcription	NH-A	brain
48	chr8:104396400-104400400	Weak transcription	K562	blood
49	chr8:104396600-104399800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:104396600-104399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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