Variant report

Variant	rs17804400
Chromosome Location	chr8:104448723-104448724
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104448714..104451304-chr8:104452302..104455257,3	MCF-7	breast:
2	chr8:104438965..104441670-chr8:104447257..104450090,2	MCF-7	breast:
3	chr8:104446645..104449051-chr8:104449601..104451343,2	MCF-7	breast:
4	chr8:104448646..104450563-chr8:104458852..104463066,3	MCF-7	breast:
5	chr8:104308882..104311914-chr8:104447793..104450443,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3098228	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3098229	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3098232	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3098246	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3098247	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3098254	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3133800	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3133801	0.89[ASN][1000 genomes]
rs3133803	0.89[ASN][1000 genomes]
rs3133805	0.80[EUR][1000 genomes]
rs3133810	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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	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
10	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
11	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
12	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104428200-104462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:104428200-104464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:104428800-104457400	Weak transcription	Stomach Mucosa	stomach
4	chr8:104428800-104460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:104429000-104450800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:104429000-104453200	Weak transcription	Colonic Mucosa	Colon
7	chr8:104429000-104453400	Weak transcription	Right Ventricle	heart
8	chr8:104429000-104456600	Weak transcription	Thymus	Thymus
9	chr8:104429000-104457800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:104429000-104458600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:104429000-104459000	Weak transcription	Brain Angular Gyrus	brain
12	chr8:104429000-104459000	Weak transcription	Gastric	stomach
13	chr8:104429000-104461400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:104429200-104456000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:104429200-104458600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:104429400-104453200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:104429400-104455000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:104429400-104456800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:104429400-104457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:104429400-104458600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:104430400-104457600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:104430600-104457000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:104430600-104461200	Weak transcription	Pancreas	Pancrea
24	chr8:104432000-104457600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr8:104432000-104460600	Weak transcription	Small Intestine	intestine
26	chr8:104432200-104455600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:104432400-104449800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:104432400-104449800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:104432400-104457400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:104432600-104452800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:104432600-104457200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:104432800-104449200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:104433000-104451200	Strong transcription	Primary B cells from cord blood	blood
34	chr8:104433000-104457000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:104433000-104458000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:104433200-104450000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:104433200-104457200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr8:104433400-104456400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr8:104434400-104466600	Weak transcription	Psoas Muscle	Psoas
40	chr8:104434600-104459400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:104434800-104449200	Weak transcription	Fetal Brain Male	brain
42	chr8:104434800-104462000	Weak transcription	Spleen	Spleen
43	chr8:104435400-104449200	Weak transcription	Ovary	ovary
44	chr8:104437000-104453400	Weak transcription	Fetal Stomach	stomach
45	chr8:104437000-104454000	Weak transcription	Fetal Intestine Small	intestine
46	chr8:104438600-104451200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:104439200-104449800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:104439600-104449800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:104440600-104450800	Weak transcription	Brain Substantia Nigra	brain
50	chr8:104440600-104452800	Weak transcription	Brain Anterior Caudate	brain

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