Variant report

Variant	rs2892544
Chromosome Location	chr8:104429279-104429280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104427774..104429306-chr8:104457033..104459237,2	MCF-7	breast:
2	chr8:104427653..104431566-chr8:104442876..104445476,3	K562	blood:
3	chr8:104428226..104429911-chr8:104523222..104524939,2	MCF-7	breast:
4	chr16:4743346..4745302-chr8:104426942..104429289,2	MCF-7	breast:
5	chr8:104382707..104385620-chr8:104427062..104430016,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168101	Chromatin interaction
ENSG00000164932	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2118058	1.00[AMR][1000 genomes]
rs2388534	1.00[AMR][1000 genomes]
rs7833434	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834718	1.00[AMR][1000 genomes]
rs7835639	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
13	nsv611832	chr8:104400808-104481735	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	esv2753239	chr8:104404824-104545824	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104422800-104429600	Active TSS	GM12878-XiMat	blood
2	chr8:104423400-104429400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:104428000-104429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:104428200-104429400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr8:104428200-104462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:104428200-104464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:104428400-104429400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:104428400-104429400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:104428400-104429400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr8:104428400-104429400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:104428400-104429400	Flanking Active TSS	Dnd41	blood
12	chr8:104428400-104429600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:104428400-104430200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:104428800-104429400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:104428800-104429400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:104428800-104429400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:104428800-104429400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:104428800-104429400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr8:104428800-104429400	Enhancers	Fetal Stomach	stomach
20	chr8:104428800-104429400	Flanking Active TSS	HepG2	liver
21	chr8:104428800-104429600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:104428800-104429600	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:104428800-104429600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:104428800-104430400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:104428800-104431400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:104428800-104433600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:104428800-104433600	Weak transcription	Placenta	Placenta
28	chr8:104428800-104433800	Weak transcription	Aorta	Aorta
29	chr8:104428800-104457400	Weak transcription	Stomach Mucosa	stomach
30	chr8:104428800-104460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:104429000-104429400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:104429000-104429400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:104429000-104429400	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:104429000-104429400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:104429000-104429400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:104429000-104429400	Enhancers	Liver	Liver
37	chr8:104429000-104429400	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:104429000-104429400	Enhancers	Fetal Intestine Small	intestine
39	chr8:104429000-104429400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr8:104429000-104429400	Enhancers	Fetal Lung	lung
41	chr8:104429000-104429400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:104429000-104429600	Enhancers	Primary B cells from cord blood	blood
43	chr8:104429000-104429600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:104429000-104429600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:104429000-104429600	Enhancers	NHDF-Ad	bronchial
46	chr8:104429000-104429800	Enhancers	Primary T cells from cord blood	blood
47	chr8:104429000-104430000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:104429000-104430000	Weak transcription	Ovary	ovary
49	chr8:104429000-104430400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:104429000-104431400	Weak transcription	Small Intestine	intestine

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